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Last updated: 26-Jun-98
REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers
Aasly ; J ; 2711 ; Early mitochondrial changes in chronic progressive ocular myopathy. ; Eur Neurol ; 1990 ; 30(6) ; 314-8
Abe ; K ; 5672 ; Measurement of tissue oxygen consumption in patients with mitochondrial myopathy by noninvasive tissue oximetry. ; Neurology ; 1997 ; 49(3) ; 837-41
Abe ; K ; 1027 ; Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). ; Acta Neurologica Scandinavica ; 1991 ; 83(6) ; 356-9
Abramowicz ; MJ ; 3109 ; Pernicious anaemia and hypoparathyroidism in a patient with Kearns- Sayre syndrome with mitochondrial DNA duplication. ; J Inherit Metab Dis ; 1996 ; 19(2) ; 109-111
Acharya ; JN ; 1075* ; Familial progressive myoclonus epilepsy: clinical and electrophysiologic observations. ; Epilepsia ; 1995 ; 36(5) ; 429-34
Akaike ; M ; 3116 ; A case of Kearns-Sayre syndrome whose asymptomatic mother had abnormal mitochondria in skeletal muscle ; Rinsho Shinkeigaku ; 1995 ; 35(2) ; 190-194
Akaike ; M ; 5676 ; Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia. ; Clin Cardiol ; 1997 ; 20(3) ; 239-43
Alusi ; GH ; 3123* ; Oculopharyngeal myopathy with sensorineural hearing loss. ; J Laryngol Otol ; 1996 ; 110(6) ; 567-569
Amato ; AA ; 561* ; Childhood-onset oculopharyngodistal myopathy with chronic intestinal pseudo-obstruction. ; Muscle & Nerve ; 1995 ; 18(8) ; 842-7
Ambrosio ; G ; 1059* ; Visual dysfunction in patients with mitochondrial myopathies. I. Electrophysiologic impairments. ; Documenta Ophthalmologica ; 1995 ; 89(3) ; 211-8
Ambrosio ; G ; 1058* ; Visual dysfunction in patients with mitochondrial myopathies. II. Contrast sensitivity function. ; Documenta Ophthalmologica ; 1995 ; 89(3) ; 219-28
Anders ; MW ; 1584* ; Mitochondrial bioactivation of cysteine S-conjugates and 4-thiaalkanoates: implications for mitochondrial dysfunction and mitochondrial diseases. [Review] ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 51-7
Anderson ; JR ; 1534* ; Recent advances in muscular dystrophies and myopathies. [Review] ; J Clinical Pathology ; 1995 ; 48(7) ; 597-601
Andreetta ; F ; 1359 ; Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: a new approach to the study of mitochondrial myopathies. ; Journal of the Neurological Sciences ; 1991 ; 105(1) ; 88-92
Angelini ; C ; 743 ; Hypertrophic cardiomyopathy with mitochondrial myopathy. A new phenotype of complex II defect. ; Japanese Heart Journal ; 1993 ; 34(1) ; 63-77
Anonymous ; ; 1674 ; Myositis and myopathies. ; Current Opinion in Rheumatology ; 1994 ; 6(6) ; B141-5
Antozzi ; C ; 636* ; Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency. ; Neurology ; 1994 ; 44(11) ; 2153-8
Antozzi ; C ; 5683 ; Cardiomyopathies in disorders of oxidative metabolism. ; Cardiovasc Res ; 1997 ; 35(2) ; 184-99
Antozzi ; C ; 5682 ; Emerging treatments in myopathies. ; Eur Neurol ; 1997 ; 38(3) ; 222-9
Arenas ; J ; 3143* ; Abnormal carnitine distribution in the muscles of patients with idiopathic inflammatory myopathy. ; Arthritis Rheum ; 1996 ; 39(11) ; 1869-1874
Arenas ; J ; 3144 ; Molecular genetics of mitochondrial cytopathologies ; Neurologia ; 1995 ; 10 ; 44-49
Arenas ; J ; 5687 ; Complex I defect in muscle from patients with Huntington's disease. ; Ann Neurol ; 1998 ; 43(3) ; 397-400
Argov ; Z ; 5689 ; Functional evaluation techniques in mitochondrial disorders. ; Eur Neurol ; 1998 ; 39(2) ; 65-71
Argov ; Z ; 5688 ; Muscle high-energy phosphates in central nervous system disorders. The phosphorus MRS experience. ; Ital J Neurol Sci ; 1997 ; 18(6) ; 353-7
Arpa ; J ; 5691 ; Gene dosage effect in one family with myoclonic epilepsy and ragged-red fibers (MERRF). ; Acta Neurol Scand ; 1997 ; 96(2) ; 65-71
Arpa ; J ; 614* ; Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity. ; Acta Neurol Scand ; 1994 ; 90(4) ; 281-4
Attardi ; G ; 1089* ; Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems. [Review] ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 241-8
Bakker ; HD ; 913* ; Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis. ; Journal of Inherited Metabolic Disease ; 1994 ; 17(2) ; 196-204
Bakker ; HD ; 689* ; Vitamin E in a mitochondrial myopathy with proliferating mitochondria [letter]. ; Lancet ; 1993 ; 342(8864) ; 175-6
Bakker ; HD ; 755* ; Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect. ; Pediatric Research ; 1993 ; 33(4 Pt 1) ; 412-7
Bank ; W ; 1468* ; An oxidative defect in metabolic myopathies: diagnosis by noninvasive tissue oximetry [see comments]. ; Annals of Neurology ; 1994 ; 36(6) ; 830-7
Bank ; W ; 5700 ; Diagnosis of defects in oxidative muscle metabolism by non-invasive tissue oximetry. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 7-10
Barak ; Y ; 597* ; MELAS syndrome: peripheral neuropathy Bendahanand cytochrome C-oxidase deficiency: a case report and review of the literature. [Review] ; Israel Journal of Medical Sciences ; 1995 ; 31(4) ; 224-9
Barbiroli ; B ; 5702 ; Coenzyme Q10 improves mitochondrial respiration in patients with mitochondrial cytopathies. An in vivo study on brain and skeletal muscle by phosphorous magnetic resonance spectroscopy. ; Cell Mol Biol (Noisy-le-grand) ; 1997 ; 43(5) ; 741-9
Barbiroli ; B ; 5701 ; In vivo assessment of human skeletal muscle mitochondria respiration in health and disease. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 11-5
Barbiroli ; B ; 842 ; Lipoic (thioctic) acid increases brain energy availability and skeletal muscle performance as shown by in vivo 31P-MRS in a patient with mitochondrial cytopathy. ; J Neurology ; 1995 ; 242(7) ; 472-7
Barohn ; Richard J. ; 291* ; Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies ; Neurology ; 1990 ; 40 ; 103-6
Barrientos ; A ; 3175 ; Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases ; Med Clin (Barc) ; 1995 ; 105(5) ; 180-184
Barth ; PG ; 3176 ; X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts. ; J Inherit Metab Dis ; 1996 ; 19(2) ; 157-160
Batocchi ; AP ; 5707 ; Ocular palsies in the absence of other neurological or ocular symptoms: analysis of 105 cases. ; J Neurol ; 1997 ; 244(10) ; 639-45
Bautista ; J ; 3185 ; Adult onset mitochondrial myopathy without ophthalmoplegia. Four cases attributable to complex III and IV deficits in the respiratory chain ; Neurologia ; 1995 ; 10(8) ; 319-323
Beal ; MF ; 5710 ; Mitochondria, free radicals, and neurodegeneration. ; Curr Opin Neurobiol ; 1996 ; 6(5) ; 661-6
Bendahan ; D. ; 16* ; 31P NMR spectroscopy and ergonometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies ; Neurology ; 1992 ; 42 ; 1203-8
Benito-Leon ; J ; 3192 ; Fibromyalgia in right half of the body as the onset of mitochondrial cytopathy. Letter ; Rev Neurol ; 1996 ; 24(134) ; 1303-1304
Bentlage ; HA ; 3196* ; Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle. ; Neurology ; 1996 ; 47(1) ; 243-248
Bentlage ; HA ; 3197 ; Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number. ; Human Molecular Genetics ; 1996 ; 5(2) ; 197-205
Bentlage ; H ; 605* ; Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies. ; Eur J Biochem ; 1995 ; 227(3) ; 909-15
Bentlage ; HA ; 603* ; Multiple deficiencies of mitochondrial DNA- and nuclear-encoded subunits of respiratory NADH dehydrogenase detected with peptide- and subunit-specific antibodies in mitochondrial myopathies. ; Biochimica et Biophysica Acta ; 1995 ; 1234(1) ; 63-73
Berio ; A ; 3202 ; Marinesco-Sjogren syndrome with chronic progressive ophthalmoplegia caused by presumed defective oxidative phosphorylation ; Pediatr Med Chir ; 1996 ; 18(1) ; 99-103
Berio ; A ; 3201 ; A case of chronic progressive external ophthalmoplegia with severe scoliosis ; Pediatr Med Chir ; 1995 ; 17(5) ; 455-458
Bet ; L ; 638* ; Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases. ; Journal of Neurology ; 1994 ; 241(8) ; 511-6
Bidooki ; SK ; 5717 ; Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes. ; Am J Hum Genet ; 1997 ; 60(6) ; 1430-8
Birch-Machin ; MA ; 3209* ; Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain. ; Biochem Biophys Res Commun ; 1996 ; 220(1) ; 57-62
Bleyl ; SB ; 5725 ; Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. ; Am J Med Genet ; 1997 ; 72(3) ; 257-65
Bleyl ; SB ; 5726 ; Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. ; Am J Hum Genet ; 1997 ; 61(4) ; 868-72
Blok ; RB ; 3213 ; mtDNA deletion in a patient with symptoms of mitochondrial cytopathy but without ragged red fibers. ; Biochem Mol Med ; 1995 ; 56(1) ; 26-30
Blume ; G ; 5727 ; Polymyositis with cytochrome oxidase negative muscle fibres. Early quadriceps weakness and poor response to immunosuppressive therapy. ; Brain ; 1997 ; 120 ( Pt 1) ; 39-45
Blumenthal ; DT ; 5728 ; Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions. ; Neurology ; 1998 ; 50(2) ; 524-5
Bogousslavsky ; J ; 3217* ; Brain ischemia, mitochondrial cardiomyopathy, and rediscovering the wheel ; Stroke ; 1996 ; 27(2) ; 338
Bolhuis ; PA ; 841 ; Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. ; American Journal of Human Genetics ; 1991 ; 48(3) ; 481-5
Bouzidi ; MF ; 5734 ; Co-existence of high levels of a cytochrome b mutation and of a tandem 200 bp duplication in the D-loop of muscle human mitochondrial DNA. ; Hum Mol Genet ; 1998 ; 7(3) ; 385-91
Bouzidi ; MF ; 3232 ; Variations of muscle mitochondrial creatine kinase activity in mitochondrial diseases. ; Biochim Biophys Acta ; 1996 ; 1316(2) ; 61-70
Bouzidi ; MF ; 693 ; Decreased expression of ubiquinol-cytochrome c reductase subunits in patients exhibiting mitochondrial myopathy with progressive exercise intolerance. ; Neuromuscular Disorders ; 1993 ; 3(5-6) ; 599-604
Bowen ; J ; 5737 ; MR imaging and proton MR spectroscopy in A-to-G substitution at nucleotide position 3243 of leucine transfer RNA. ; AJNR Am J Neuroradiol ; 1998 ; 19(2) ; 231-4
Brackett ; JC ; 586 ; Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. ; J Clinical Investigation ; 1995 ; 95(5) ; 2076-82
Breitschwerdt ; EB ; 804 ; Episodic weakness associated with exertional lactic acidosis and myopathy in Old English sheepdog littermates [see comments]. ; Journal of the American Veterinary Medical Association ; 1992 ; 201(5) ; 731-6
Bresolin ; N ; 2748 ; Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial. ; J Neurol Sci ; 1990 ; 100(1-2) ; 70-8
Briones ; P ; 5740 ; A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60. ; J Inherit Metab Dis ; 1997 ; 20(4) ; 569-77
Brockington ; M ; 1277 ; A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies. ; Nature Genetics ; 1993 ; 4(1) ; 67-71
Brockington ; M ; 1055* ; Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study. ; Journal of the Neurological Sciences ; 1995 ; 131(1) ; 78-87
Brown ; MD ; 810 ; Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy [letter]. ; American Journal of Human Genetics ; 1992 ; 51(2) ; 446-7
Brule ; H ; 5744 ; Effect of a mutation in the anticodon of human mitochondrial tRNAPro on its post-transcriptional modification pattern. ; Nucleic Acids Res ; 1998 ; 26(2) ; 537-43
Burns ; A.M. ; 139* ; Anaesthesia for patients with mitochondrial myopathy ; Anaesthesia ; 1989 ; 44 ; 975-7
Bussieres ; LM ; 758* ; Exercise responses after cardiac transplantation in mitochondrial myopathy. ; American Journal of Cardiology ; 1993 ; 71(11) ; 1003-6
Calore ; EE ; 568 ; An unusual case of muscular limb-girdle dystrophy and mitochondrial myopathy. ; Pathologica ; 1994 ; 86(6) ; 649-51
Calore ; EE ; 5748 ; Experimental mitochondrial myopathy induced by chronic intoxication by Senna occidentalis seeds. ; J Neurol Sci ; 1997 ; 146(1) ; 1-6
Campos ; AP ; 2662* ; Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity ; Acta Neurol Scand ; 1994 ; 90 ; 281-4
Campos ; Y ; 623* ; Muscle carnitine deficiency associated with zidovudine-induced mitochondrial myopathy [letter; comment]. ; Annals of Neurology ; 1994 ; 36(4) ; 680-1
Campos ; Y ; 744* ; Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy. ; Muscle & Nerve ; 1993 ; 16(7) ; 778-81
Campos ; Y ; 560* ; Respiratory chain enzyme defects in patients with idiopathic inflammatory myopathy. ; Annals of the Rheumatic Diseases ; 1995 ; 54(6) ; 491-3
Campos ; Y ; 3262* ; Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosis. ; Neurology ; 1996 ; 47(4) ; 1012-1014
Campos ; Y ; 769* ; Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy. ; Muscle & Nerve ; 1993 ; 16(2) ; 150-3
Campos ; Y ; 5750 ; Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene. ; Biochem Biophys Res Commun ; 1997 ; 238(2) ; 323-5
Campos ; Y ; 1049* ; Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome. ; Pediatric Neurology ; 1995 ; 13(1) ; 69-72
Campos ; Y ; 3263* ; Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA. ; Muscle & Nerve ; 1996 ; 19(2) ; 187-190
Carlow ; TJ ; 5754 ; MR of extraocular muscles in chronic progressive external ophthalmoplegia. ; AJNR Am J Neuroradiol ; 1998 ; 19(1) ; 95-9
Carroll ; PV ; 5755 ; Growth hormone therapy may benefit protein metabolism in mitochondrial encephalomyopathy. ; Clin Endocrinol (Oxf) ; 1997 ; 47(1) ; 113-7
Carroll ; JC ; 1039* ; Home mechanical ventilation in mitochondrial encephalomyopathy syndrome. ; Archives of Physical Medicine & Rehabilitation ; 1995 ; 76(11) ; 1014-6
Carrozzo ; R ; 5756 ; Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses. ; Neurology ; 1998 ; 50(1) ; 99-106
Carvalho ; Mamede A. ; 280* ; Fibrillation in mitochondrial myopathy [letter]. ; Muscle & Nerve ; 1993 ; 16(4) ; 432-33
Casademont ; J ; 604 ; Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. ; Human Molecular Genetics ; 1994 ; 3(11) ; 1945-9
Cashman ; RE ; 3275 ; Adult-onset mitochondrial myopathy coexistent with lumbar disc disease. A case report. ; J Bone Joint Surg Am ; 1996 ; 78(5) ; 767-771
Casta ; A ; 5758 ; Perioperative white matter degeneration and death in a patient with a defect in mitochondrial oxidative phosphorylation. ; Anesthesiology ; 1997 ; 87(2) ; 420-5
Castillo ; M ; 594* ; MELAS syndrome: imaging and proton MR spectroscopic findings. ; Ajnr: American Journal of Neuroradiology ; 1995 ; 16(2) ; 233-9
Castro-Gago ; M ; 3278* ; Severe myoclonic epilepsy associated with mitochondrial cytopathy. ; Childs Nerv Syst ; 1995 ; 11(11) ; 630-633
Chabrol ; B ; 5761 ; Stuve-Wiedemann syndrome and defects of the mitochondrial respiratory chain. ; Am J Med Genet ; 1997 ; 72(2) ; 222-6
Chabrol ; B ; 5762 ; Cerebral infarction associated with Kearns-Sayre syndrome [letter; comment] ; Neurology ; 1997 ; 49(1) ; 308
Chalmers ; RM ; 5764 ; Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features. ; J Neurol Sci ; 1996 ; 143(1-2) ; 41-5
Chance ; B ; 1583* ; Genetic disease of mitochondrial function evaluated by NMR and NIR spectroscopy of skeletal tissue. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 7-14
Chariot ; P ; 621* ; Expression of cytochrome c oxidase subunits encoded by mitochondrial or nuclear DNA in the muscle of patients with zidovudine myopathy. ; Journal of the Neurological Sciences ; 1994 ; 125(2) ; 190-3
Chariot ; P ; 1497 ; Partial cytochrome c oxidase deficiency and cytoplasmic bodies in patients with zidovudine myopathy. ; Neuromuscular Disorders ; 1991 ; 1(5) ; 357-63
Chariot ; P ; 678* ; Determination of the blood lactate:pyruvate ratio as a noninvasive test for the diagnosis of zidovudine myopathy. ; Arthritis & Rheumatism ; 1994 ; 37(4) ; 583-6
Chariot ; P ; 715 ; Cytochrome c oxidase reaction improves histopathological assessment of zidovudine myopathy. ; Ann Neurol ; 1993 ; 34(4) ; 561-5
Chaussain ; M ; 1966 ; Exercise intolerance in patients with McArdle's disease or mitochondrial myopathies [see comments]. ; European Journal of Medicine ; 1992 ; 1(8) ; 457-63
Chelimsky ; TC ; 5768 ; Effect of exercise and ischemia on tissue oximetry and cytochrome in normal subjects, patients with chronic limb pain, and patients with mitochondrial mitopathies. ; Adv Exp Med Biol ; 1997 ; 411 ; 445-51
Chen ; X ; 1090* ; Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 229-33
Chen ; RS ; 3290* ; Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome. ; Muscle & Nerve ; 1996 ; 19(4) ; 519-521
Chen ; RS ; 5770 ; Coenzyme Q10 treatment in mitochondrial encephalomyopathies. Short-term double-blind, crossover study. ; Eur Neurol ; 1997 ; 37(4) ; 212-8
Chiang ; LM ; 570* ; Heteroplasmic mitochondrial DNA mutation in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. [Review] ; Journal of the Formosan Medical Association ; 1995 ; 94(1-2) ; 42-7
Chinnery ; PF ; 5771 ; Vomiting, anorexia, and mitochondrial DNA disease [letter; comment] ; Lancet ; 1998 ; 351(9100) ; 448
Chinnery ; PF ; 5772 ; Recurrent strokes in a 34-year-old man [see comments] ; Lancet ; 1997 ; 350(9077) ; 560
Chinnery ; PF ; 5774 ; Mitochondrial medicine. ; QJM ; 1997 ; 90(11) ; 657-67
Chinnery ; PF ; 5773 ; Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. ; Brain ; 1997 ; 120 ( Pt 10) ; 1713-21
Chinnery ; PF ; 5775 ; Clinical features, investigation, and management of patients with defects of mitochondrial DNA [editorial] ; J Neurol Neurosurg Psychiatry ; 1997 ; 63(5) ; 559-63
Chu ; CC ; 5781 ; Peripheral neuropathy in mitochondrial encephalomyopathies. ; Eur Neurol ; 1997 ; 37(2) ; 110-5
Ciccotelli ; KK ; 5782 ; An adult with inherited mitochondrial encephalomyopathy: report of a case. ; Anesthesiology ; 1997 ; 87(5) ; 1240-2
Clark ; JM ; 3303* ; MELAS: Clinical and pathologic correlations with MRI, xenon/CT, and MR spectroscopy. ; Neurology ; 1996 ; 46(1) ; 223-227
Clark ; KM ; 5783 ; Reversal of a mitochondrial DNA defect in human skeletal muscle [letter] ; Nat Genet ; 1997 ; 16(3) ; 222-4
Cohen ; O ; 5786 ; Mitochondrial myopathy with atypical subacute presentation [letter] ; J Neurol Neurosurg Psychiatry ; 1998 ; 64(3) ; 410-1
Cohen ; JM ; 5787 ; Combination ptosis crutch and moisture chamber for management of progressive external ophthalmoplegia. ; J Am Optom Assoc ; 1997 ; 68(10) ; 663-7
Collins ; S ; 565* ; Contrasting histochemical features of various mitochondrial syndromes. ; Acta Neurologica Scandinavica ; 1995 ; 91(4) ; 287-93
Collombet ; JM ; 5788 ; Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies. ; Mol Cell Biochem ; 1997 ; 168(1-2) ; 73-85
Collombet ; JM ; 5789 ; Accumulation of mitochondrial DNA deletions in myotubes cultured from muscles of patients with mitochondrial myopathies. ; Mol Gen Genet ; 1996 ; 253(1-2) ; 182-8
Constans ; J ; 687 ; Ventricular arrhythmia revealing mitochondrial myopathy in a 69-year-old woman. ; European Heart Journal ; 1993 ; 14(8) ; 1137-9
Cortopassi ; G ; 1091* ; Modelling the effects of age-related mtDNA mutation accumulation; complex I deficiency, superoxide and cell death. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 171-6
Costa ; CG ; 5796 ; Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders. ; Clin Chem ; 1998 ; 44(3) ; 463-71
Cros ; Didier ; 19* ; Respiratory failure revealing mitochondrial myopathy in adults. ; Chest ; 1992 ; 101(3) ; 824-8
Dalakas ; MC ; 624* ; Zidovudine-induced mitochondrial myopathy is associated with muscle carnitine deficiency and lipid storage [see comments]. ; Annals of Neurology ; 1994 ; 35(4) ; 482-7
Dalakas ; MC ; 696 ; Retroviruses and inflammatory myopathies in humans and primates. [Review] ; Baillieres Clinical Neurology ; 1993 ; 2(3) ; 659-91
Damian ; MS ; 3330* ; Clinical spectrum of the MELAS mutation in a large pedigree. ; Acta Neurol Scand ; 1995 ; 92(5) ; 409-415
Damian ; MS ; 5803 ; Follow-up in carriers of the 'MELAS' mutation without strokes. ; Eur Neurol ; 1998 ; 39(1) ; 9-15
Dandurand ; RJ ; 572* ; Mitochondrial disease. Pulmonary function, exercise performance, and blood lactate levels. ; Chest ; 1995 ; 108(1) ; 182-9
De Coo ; IF ; 5807 ; A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples. ; J Neurol Sci ; 1997 ; 149(1) ; 37-40
de Coo ; IF ; 5808 ; A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes. ; Neurology ; 1998 ; 50(1) ; 293-5
De Pinieux ; G ; 5811 ; Lipid-lowering drugs and mitochondrial function: effects of HMG-CoA reductase inhibitors on serum ubiquinone and blood lactate/pyruvate ratio. ; Br J Clin Pharmacol ; 1996 ; 42(3) ; 333-7
De Stefano ; N ; 1602* ; Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. ; Neurology ; 1995 ; 45(6) ; 1193-8
De Tata ; V ; 712 ; The induction of mitochondrial myopathy in the rat by feeding beta-guanidinopropionic acid and the reversibility of the induced mitochondrial lesions: a biochemical and ultrastructural investigation. ; International Journal of Experimental Pathology ; 1993 ; 74(5) ; 501-9
de Vries ; DD ; 1208* ; Enzymological versus DNA investigations in mitochondrial (encephalo-) myopathies. ; Journal of Inherited Metabolic Disease ; 1993 ; 16(3) ; 534-6
Degoul ; F ; 5813 ; Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene. ; Hum Mol Genet ; 1998 ; 7(3) ; 347-54
Degoul ; F ; 1363 ; Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies. ; Journal of the Neurological Sciences ; 1991 ; 101(2) ; 168-77
DeGraba ; TJ ; 1104* ; Genetics of ischemic stroke. [Review] ; Current Opinion in Neurology ; 1995 ; 8(1) ; 24-9
Del Olmo ; A ; 3351 ; MELAS syndrome: clinical, pathological and neuroimaging study ; Rev Neurol ; 1995 ; 23(120) ; 410-413
Dengler ; R ; 3353* ; Muscle fatigue, lactate, and pyruvate in mitochondrial myopathy with progressive external ophthalmoplegia. ; Muscle & Nerve ; 1996 ; 19(4) ; 456-462
Derr ; M ; 1628 ; The end of the road [news]. ; Scientific American ; 1995 ; 272(4) ; 16
Di Donato ; S ; 5817 ; Cellular models for pathogenesis in mitochondrial diseases [editorial] ; Curr Opin Neurol ; 1996 ; 9(6) ; 469-72
Di Lazzaro ; V ; 5818 ; Functional involvement of central nervous system in mitochondrial disorders. ; Electroencephalogr Clin Neurophysiol ; 1997 ; 105(3) ; 171-80
Di Trapani ; G ; 5819 ; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). ; Clin Neuropathol ; 1997 ; 16(4) ; 195-200
Diesel ; W ; 709* ; Morphologic features of the myopathy associated with chronic renal failure. ; American Journal of Kidney Diseases ; 1993 ; 22(5) ; 677-84
DiMauro ; Salvatore ; 125* ; Mitochondrial Myopathies ; Annals of Neurology ; 1985 ; 17:6 ; 521-37
DiMauro ; S ; 5821 ; Mitochondrial disorders. ; Jpn J Hum Genet ; 1997 ; 42(4) ; 473-87
DiMauro ; S. ; 257* ; Metabolic Myopathies ; Handbook of Clinical Neurology ; 1992 ; 18(62) ; 479-522
Dionisi-Vici ; C ; 5822 ; New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency. ; Ann Neurol ; 1997 ; 42(4) ; 661-5
Djaldetti ; R ; 792 ; Parkinson's disease in a patient with mitochondrial myopathy: is there a causative relationship? [letter]. ; Movement Disorders ; 1992 ; 7(4) ; 382-3
Donovan ; TJ ; 3363* ; Mitochondrial encephalomyopathy: a rare genetic cause of sensorineural hearing loss. ; Ann Otol Rhinol Laryngol ; 1995 ; 104(10) ; 786-792
Dorvalina Silva ; M ; 3364 ; Neuromuscular action of crotalid venoms: preliminary data ; Arq Neuropsiquiatr ; 1996 ; 54(1) ; 1-11
Drouet ; A ; 3367 ; Chronic progressive external ophthalmoplegia with mitochondrial anomalies. Clinical, histological, biochemical and genetic analysis (9 cases) ; Rev Med Interne ; 1996 ; 17(3) ; 200-206
Drugge ; U ; 882* ; Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study. ; Journal of Medical Genetics ; 1995 ; 32(5) ; 344-7
Dumoulin ; R ; 5832 ; A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. ; Mol Cell Probes ; 1996 ; 10(5) ; 389-91
Dunbar ; DR ; 1571* ; Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes. ; Proc Natl Acad Sci USA ; 1995 ; 92(14) ; 6562-6
Dunbar ; DR ; 3370 ; Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids. ; Human Molecular Genetics ; 1996 ; 5(1) ; 123-129
Dunlop ; IS ; 3374* ; Reversible ophthalmoplegia in CPEO. ; Aust N Z J Ophthalmol ; 1995 ; 23(3) ; 231-234
Durrieu ; G ; 5833 ; Identification of mitochondrial deficiency using principal component analysis. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 149-56
Emeryk ; B ; 785 ; Muscular fatigability in mitochondrial myopathies. An electrophysiological study. ; Electromyography & Clinical Neurophysiology ; 1992 ; 32(4-5) ; 235-45
England ; JD ; 3388* ; Mitochondrial myopathy developing on treatment with the HMG CoA reductase inhibitors--simvastatin and pravastatin ; Aust N Z J Med ; 1995 ; 25(4) ; 374-375
Engle ; EC ; 5839 ; Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. ; Ann Neurol ; 1997 ; 41(3) ; 314-25
Enriquez ; JA ; 1378* ; MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. ; Nature Genetics ; 1995 ; 10(1) ; 47-55
Enriquez ; JA ; 3390 ; Analysis of aminoacylation of human mitochondrial tRNAs. ; Meth Enzymol ; 1996 ; 264 ; 183-196
Erro ; E ; 3394 ; MELAS syndrome with peripheral neuropathy ; Neurologia ; 1995 ; 10(2) ; 117
Etcharry-Bouyx ; F ; 3397 ; Fahr's disease and mitochondrial myopathy ; Rev Neurol (Paris) ; 1995 ; 151(12) ; 731-733
Etcharry-Bouyx ; F ; 3396 ; Chronic rhabdomyolysis disclosing mitochondriopathy and malignant hyperthermia susceptibility ; Rev Neurol (Paris) ; 1995 ; 151(10) ; 589-592
Ewart ; RM ; 5842 ; Pregnancy in chronic progressive external ophthalmoplegia: a case report. ; Am J Perinatol ; 1997 ; 14(5) ; 293-5
Fabrizi ; GM ; 3404 ; Autosomal dominant limb girdle myopathy with ragged-red fibers and cardiomyopathy. A pedigree study by in vivo 31P-MR spectroscopy indicating a multisystem mitochondrial defect ; J Neurol Sci ; 1996 ; 137(1) ; 20-27
Fabrizi ; GM ; 3405 ; Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy. ; J Neurology ; 1995 ; 242(8) ; 490-496
Fabrizi ; GM ; 3406* ; The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. ; J Neurol Neurosurg Psychiatr ; 1996 ; 61(1) ; 47-51
Fadic ; R ; 5843 ; Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. ; Neurology ; 1997 ; 49(1) ; 239-45
Faigel ; HC ; 1515 ; Carnitine palmitoyltransferase deficiency in a college athlete: a case report and literature review. [Review] ; J American College Health ; 1995 ; 44(2) ; 51-4
Fang ; W ; 3408* ; Polyneuropathy in the mtDNA base pair 3243 point mutation ; Neurology ; 1996 ; 46(5) ; 1494-1495
Feigenbaum ; A ; 3412* ; The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy. ; Am J Med Genet ; 1996 ; 62(4) ; 404-409
Fernandez-Sola ; J ; 183* ; Adult-onset mitochondrial myopathy ; Postgrad Med J ; 1992 ; 68(797) ; 212-5
Fernandez-Sola ; J ; 5849 ; Alcoholic myopathies. ; Curr Opin Neurol ; 1996 ; 9(5) ; 400-5
Ferrari ; M ; 5850 ; Oxidative metabolism in muscle. ; Philos Trans R Soc Lond B Biol Sci ; 1997 ; 352(1354) ; 677-83
Ferrera ; PC ; 5851 ; Etiology of pediatric ischemic stroke. ; Am J Emerg Med ; 1997 ; 15(7) ; 671-9
Finsterer ; J ; 5852 ; Cardiac involvement in patients with myotonic dystrophy, Becker's muscular dystrophy and mitochondrial myopathy. ; Herz ; 1997 ; 22(2) ; 96-103
Flierl ; A ; 5856 ; Pathophysiology of the MELAS 3243 transition mutation. ; J Biol Chem ; 1997 ; 272(43) ; 27189-96
Fromenty ; B ; 5866 ; High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. ; Am J Med Genet ; 1997 ; 71(4) ; 443-52
Fromenty ; B ; 3424* ; Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR. ; Biochim Biophys Acta ; 1996 ; 1308(3) ; 222-230
Fu ; K ; 5867 ; A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. ; Hum Mol Genet ; 1996 ; 5(11) ; 1835-40
Fujii ; T ; 1073* ; 123I-IMP SPECT findings in mitochondrial encephalomyopathies. ; Brain Dev ; 1995 ; 17(2) ; 89-94
Funakawa ; I ; 5870 ; Periodic lateralized epileptiform discharges in mitochondrial encephalomyopathy. ; Electroencephalogr Clin Neurophysiol ; 1997 ; 103(3) ; 370-5
Garlepp ; MJ ; 5877 ; Genetics of the idiopathic inflammatory myopathies. ; Curr Opin Rheumatol ; 1996 ; 8(6) ; 514-20
Gattermann ; N ; 3441* ; Detection of the ageing-associated 5-Kb common deletion of mitochondrial DNA in blood and bone marrow of hematologically normal adults. Absence of the deletion in clonal bone marrow disorders. ; Leukemia ; 1995 ; 9(10) ; 1704-1710
Gebhart ; SS ; 3443* ; Insulin resistance associated with maternally inherited diabetes and deafness. ; Metabolism ; 1996 ; 45(4) ; 526-531
Genge ; A ; 583* ; Familial myopathy with conspicuous depletion of mitochondria in muscle fibers: a morphologically distinct disease. ; Neuromuscular Disorders ; 1995 ; 5(2) ; 139-44
Gerbitz ; KD ; 3447 ; Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit. ; Diabetes ; 1996 ; 45(2) ; 113-126
Gherardi ; R ; 3449 ; Muscular involvement in HIV infection ; Rev Neurol (Paris) ; 1995 ; 151(11) ; 603-607
Gold ; R ; 3454* ; Phosphorus magnetic resonance spectroscopy in the evaluation of mitochondrial myopathies: results of a 6-month therapy study with coenzyme Q. ; Eur Neurol ; 1996 ; 36(4) ; 191-196
Goldberg-Stern ; H ; 3455 ; The importance of molecular genetics in epilepsy ; Harefuah ; 1996 ; 131(3-4) ; 104-107
Gopalakrishnan ; L ; 1559* ; Structure, expression, and chromosomal assignment of the human gene encoding nuclear respiratory factor 1. ; J Biol Chem ; 1995 ; 270(30) ; 18019-25
Gopinath ; R ; 793 ; Chronic lactic acidosis in a patient with acquired immunodeficiency syndrome and mitochondrial myopathy: biochemical studies. ; Journal of the American Society of Nephrology ; 1992 ; 3(6) ; 1212-9
Gordon ; PH ; 5883 ; Erroneous diagnosis corrected after 28 years. Not spinal muscular atrophy with ophthalmoplegia but minicore myopathy. ; Arch Neurol ; 1996 ; 53(11) ; 1194-6
Gordon ; N ; 1101 ; Alternating hemiplegia of childhood. ; Developmental Medicine & Child Neurology ; 1995 ; 37(5) ; 464-8
Goto ; Y ; 3466 ; Mitochondrial encephalomyopathies: 3243 mutation as a central matter ; Rinsho Shinkeigaku ; 1995 ; 35(12) ; 1425-1426
Goto ; Y ; 1019 ; A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). ; Biochimica et Biophysica Acta ; 1991 ; 1097(3) ; 238-40
Goto ; Y. ; 21* ; Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. ; Neurology ; 1992 ; 42(3 Pt 1) ; 545-550
Goto ; Y. ; 145* ; A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy. ; Annals of Neurology ; 1992 ; 31(6) ; 672-5
Goto ; Y ; 651* ; A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). ; Biochemical & Biophysical Research Communications ; 1994 ; 202(3) ; 1624-30
Graeber ; MB ; 5886 ; Recent developments in the molecular genetics of mitochondrial disorders. ; J Neurol Sci ; 1998 ; 153(2) ; 251-63
Grau ; JM ; 736 ; Human immunodeficiency virus type 1 infection and myopathy: clinical relevance of zidovudine therapy [see comments]. ; Ann Neurol ; 1993 ; 34(2) ; 206-11
Grau ; JM ; 1549* ; Aging and muscle mitochondrial abnormalities [letter]. ; Annals of Neurology ; 1995 ; 38(2) ; 273-4
Greene ; CL ; 5889 ; Catastrophic metabolic encephalopathies in the newborn period. Evaluation and management. ; Clin Perinatol ; 1997 ; 24(4) ; 773-86
Grekas ; GF ; 5891 ; Complete heart block in the setting of mitochondrial cytopathy: implantation of a permanent pacemaker in a 6-year-old boy. ; Pacing Clin Electrophysiol ; 1997 ; 20(4 Pt 1) ; 995-6
Griebel ; V ; 2705 ; A mitochondrial myopathy in an infant with lactic acidosis. ; Dev Med Child Neurol ; 1990 ; 32(6) ; 528-31
Griggs ; RC ; 3472* ; Inclusion body myositis and myopathies. ; Ann Neurol ; 1995 ; 38(5) ; 705-713
Grossman ; LI ; 5892 ; Mitochondrial genetics and human disease. ; Bioessays ; 1996 ; 18(12) ; 983-91
Grunnet ; M.L. ; 295* ; Juvenile Leigh's encephalomyelopathy with peripheral neuropathy, myopathy, and cardiomyopathy. ; Journal of Child Neurology ; 1991 ; 6(2) ; 159-63
Guenthard ; J ; 1615* ; Cardiomyopathy in respiratory chain disorders. [Review] ; Archives of Disease in Childhood ; 1995 ; 72(3) ; 223-6
Gupta ; SR ; 581* ; Supranuclear eye movement dysfunction in mitochondrial myopathy with tRNA(LEU) mutation. ; Journal of Neuro-Ophthalmology ; 1995 ; 15(1) ; 20-5
Gvozdjakova ; A ; 3485 ; Metabolic study of mitochondria in myocardial biopsies in patients with cardiopathy of unknown origin ; Bratisl Lek Listy ; 1996 ; 97(6) ; 348-350
Haferkamp ; O ; 671* ; Mitochondrial complex I and III mutations and neutral-lipid storage in activated mononuclear macrophages and neutrophils: a case presenting with necrotizing myopathy, poikiloderma atrophicans vasculare, and xanthogranulomatous bursitis. ; Human Pathology ; 1994 ; 25(4) ; 419-23
Haginoya ; K ; 331* ; Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy. ; Pediatric Neurology ; 1992 ; 8(1) ; 13-8
Hall ; RE ; 707 ; Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins. ; Journal of Clinical Investigation ; 1993 ; 92(6) ; 2660-6
Hamblet ; NS ; 5903 ; Elevated levels of the Kearns-Sayre syndrome mitochondrial DNA deletion in temporal cortex of Alzheimer's patients. ; Mutat Res ; 1997 ; 379(2) ; 253-62
Hammans ; SR ; 578* ; The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study. ; Brain ; 1995 ; 118 ( Pt 3) ; 721-34
Hammans ; S.R. ; 182* ; Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrail myopathy ; Journal of the Neurological Sciences ; 1992 ; 107(1) ; 86-92
Hanna ; MG ; 5906 ; Two unusual clinical presentations of the mitochondrial DNA A3243G point mutation in adult neurological practice [letter] ; J Neurol Neurosurg Psychiatry ; 1997 ; 62(5) ; 544-6
Hanna ; MG ; 5907 ; Movement disorders and mitochondrial dysfunction. ; Curr Opin Neurol ; 1997 ; 10(4) ; 351-6
Hanna ; MG ; 592* ; Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. ; American Journal of Human Genetics ; 1995 ; 56(5) ; 1026-33
Hansen ; LK ; 3500 ; Mitochondrial encephalomyopathies ; Ugeskr Laeger ; 1995 ; 157(47) ; 6565-6567
Hao ; H ; 3502* ; Functional and molecular mitochondrial abnormalities associated with a C --> T transition at position 3256 of the human mitochondrial genome. The effects of a pathogenic mitochondrial tRNA point mutation in organelle translation and RNA processing. ; J Biol Chem ; 1996 ; 271(4) ; 2347-2352
Hao ; H ; 593* ; Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. ; American Journal of Human Genetics ; 1995 ; 56(5) ; 1017-25
Hao ; H ; 5908 ; A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn). ; Mol Cell Biol ; 1997 ; 17(12) ; 6831-7
Harle ; Jean-Robert ; 24* ; Polymyalgia Rheumatica and Mitochondrial Myopathy: Clinicopatholigal and Biochemical Studies in Five Cases ; The American Journal of Medicine ; 1992 ; 92(2) ;
Harrison ; TJ ; 5909 ; Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy. ; Am J Ophthalmol ; 1997 ; 124(2) ; 217-21
Hartley ; C ; 644* ; Laryngeal involvement in mitochondrial myopathy. ; Journal of Laryngology & Otology ; 1994 ; 108(8) ; 685-7
Hasegawa ; H ; 1026 ; Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ; Annals of Neurology ; 1991 ; 29(6) ; 601-5
Heddi ; A ; 745* ; Mitochondrial DNA expression in mitochondrial myopathies and coordinated expression of nuclear genes involved in ATP production. ; Journal of Biological Chemistry ; 1993 ; 268(16) ; 12156-63
Heiman-Patterson ; TD ; 5913 ; Biochemical and genetic studies in a family with mitochondrial myopathy. ; Muscle Nerve ; 1997 ; 20(10) ; 1219-24
Hess ; J ; 843* ; Ischaemic colitis due to mitochondrial cytopathy [letter]. ; Lancet ; 1995 ; 346(8968) ; 189-90
Hilton ; G ; 3520* ; MELAS: a mitochondrial encephalomyopathy syndrome. ; J Neurosci Nurs ; 1995 ; 27(5) ; 278-282
Hirai ; M ; 3521 ; Mitochondrial DNA 3394 mutation in the NADH dehydrogenase subunit 1 associated with non-insulin-dependent diabetes mellitus. ; Biochem Biophys Res Commun ; 1996 ; 219(3) ; 951-955
Hirano ; M ; 677 ; Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. [Review] ; J Child Neurol ; 1994 ; 9(1) ; 4-13
Hirose ; Y ; 691 ; High-output heart failure in mitochondrial myopathy: a fulminant form with severe lactic acidosis and rhabdomyolysis. ; Internal Medicine ; 1993 ; 32(10) ; 798-801
Hirt ; L ; 3522* ; Large deletion (7.2 kb) of mitochondrial DNA with novel boundaries in a case of progressive external ophthalmoplegia ; J Neurol Neurosurg Psychiatr ; 1996 ; 61(4) ; 422-423
Hiruta ; Y ; 3523 ; Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy. ; Internal Medicine ; 1995 ; 34(7) ; 670-673
Hofmann ; S ; 5923 ; Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. ; Hum Mol Genet ; 1997 ; 6(11) ; 1835-46
Holme ; E ; 1088* ; Inheritance and expression of mitochondrial DNA point mutations. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 249-52
Holt ; I.J. ; 2573 ; Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms. ; Nucl. Acids Res. ; 1989 ; 17 ; 4465-4469
Holt ; IJ ; 5927 ; Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: segregation, maintenance and recombination dependent upon nuclear background. ; Hum Mol Genet ; 1997 ; 6(8) ; 1251-60
Holt ; I.J. ; 2574 ; Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. ; Ann. Neurol. ; 1989 ; 26 ; 699-708
Holt ; I.J. ; 127* ; Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies ; Nature ; 1988 ; 331 ; 717-9
Hoon Jr ; AH ; 5928 ; Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes. ; J Pediatr ; 1997 ; 131(2) ; 240-5
Hooper ; RG ; 613* ; Mitochondrial enzyme deficiency causing exercise limitation in normal-appearing adults. ; Chest ; 1995 ; 107(2) ; 317-22
Horvath ; R ; 5929 ; Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis. ; J Neuropathol Exp Neurol ; 1998 ; 57(5) ; 396-403
Hou ; JH ; 3534 ; The unusual structures of the hot-regions flanking large-scale deletions in human mitochondrial DNA. ; Biochem J ; 1996 ; 318( Pt 3) ; 1065-1070
Houshmand ; M ; 3537* ; Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne. ; Human Genetics ; 1996 ; 97(3) ; 269-273
Howard ; RS ; 1102 ; Management of mitochondrial disease on an intensive care unit. ; QJM ; 1995 ; 88(3) ; 197-207
Howell ; N ; 3541* ; Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. ; Neurology ; 1996 ; 46(1) ; 219-222
Hsieh ; F ; 3542* ; Acute renal failure and the MELAS syndrome, a mitochondrial encephalomyopathy. ; J Am Soc Nephrol ; 1996 ; 7(5) ; 647-652
Hsu ; CC ; 1041* ; CPEO and carnitine deficiency overlapping in MELAS syndrome. ; Acta Neurologica Scandinavica ; 1995 ; 92(3) ; 252-5
Huang ; CC ; 1077* ; Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome. ; Journal of the Formosan Medical Association ; 1995 ; 94(4) ; 159-63
Huang ; CC ; 3546* ; Random mitotic segregation of mitochondrial DNA in MELAS syndrome. ; Acta Neurol Scand ; 1996 ; 93(2-3) ; 198-202
Huckriede ; A ; 1517 ; Morphology of the mitochondria in heat shock protein 60 deficient fibroblasts from mitochondrial myopathy patients. Effects of stress conditions. ; Virchows Archiv ; 1995 ; 427(2) ; 159-65
Huizing ; M ; 3549 ; Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy. ; Pediatr Res ; 1996 ; 39(5) ; 760-765
Huizing ; M ; 1647* ; Lack of voltage-dependent anion channel in human mitochondrial myopathies [letter]. ; Lancet ; 1994 ; 344(8924) ; 762
Hwang ; JM ; 5934 ; Optic neuropathy associated with mitochondrial tRNA[Leu(UUR)] A3243G mutation. ; Ophthalmic Genet ; 1997 ; 18(2) ; 101-5
Ihara ; Y ; 5936 ; Free radicals in the cerebrospinal fluid are associated with neurological disorders including mitochondrial encephalomyopathy. ; Biochem Mol Biol Int ; 1997 ; 42(5) ; 937-47
Ikejiri ; Y ; 3561* ; Idebenone improves cerebral mitochondrial oxidative metabolism in a patient with MELAS. ; Neurology ; 1996 ; 47(2) ; 583-585
Inagaki ; T ; 5937 ; Psychiatric symptoms in a patient with diabetes mellitus associated with point mutation in mitochondrial DNA. ; Biol Psychiatry ; 1997 ; 42(11) ; 1067-9
Inbal ; A ; 591* ; Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome. ; American Journal of Medical Genetics ; 1995 ; 55(3) ; 372-8
Ionasescu ; VV ; 663* ; Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNA(Pro) gene. ; Neurology ; 1994 ; 44(5) ; 975-7
Isashiki ; Y ; 5940 ; Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation. ; Acta Ophthalmol Scand ; 1998 ; 76(1) ; 6-13
Ishikawa ; Y ; 1065 ; Severe mitochondrial cardiomyopathy and extra-neuromuscular abnormalities in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS). ; Pathology, Research & Practice ; 1995 ; 191(1) ; 64-75
Isobe ; K ; 5945 ; Identification of inheritance modes of mitochondrial diseases by introduction of pure nuclei from mtDNA-less HeLa cells to patient- derived fibroblasts. ; J Biol Chem ; 1997 ; 272(19) ; 12606-10
Isotani ; H ; 5946 ; Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion. ; Clin Endocrinol (Oxf) ; 1996 ; 45(5) ; 637-41
Isozumi ; K ; 627 ; A MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) mtDNA mutation that induces subacute dementia which mimicks Creutzfeldt-Jakob disease. ; Internal Medicine ; 1994 ; 33(9) ; 543-6
Itaya ; K ; 3569 ; Anesthetic management of two patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) ; Masui ; 1995 ; 44(5) ; 710-712
Ito ; J ; 1047 ; A patient with MELAS and arterial occlusive findings on cerebral angiography. ; J Child Neurol ; 1995 ; 10(4) ; 337-9
Jackson ; MJ ; 589* ; Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. ; Brain ; 1995 ; 118 ( Pt 2) ; 339-57
Jaksch ; M ; 3582 ; Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis. ; Clin Biochem ; 1995 ; 28(5) ; 503-509
Jaksch ; M ; 3581* ; A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus. ; Human Mutation ; 1996 ; 7(4) ; 358-360
James ; AM ; 3583 ; Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations. ; Biochem J ; 1996 ; 318( Pt 2) ; 401-407
Janetzky ; B ; 3584* ; Investigations on the point mutations at nt 5460 of the mtDNA in different neurodegenerative and neuromuscular diseases. ; Eur Neurol ; 1996 ; 36(3) ; 149-153
Jazin ; E ; 5950 ; Mitochondrial mutation rate revisited: hot spots and polymorphism [letter; comment] ; Nat Genet ; 1998 ; 18(2) ; 109-10
Jehenson ; P ; 740* ; MR imaging as a potential diagnostic test for metabolic myopathies: importance of variations in the T2 of muscle with exercise. ; AJR. American Journal of Roentgenology ; 1993 ; 161(2) ; 347-51
Jen ; J ; 5952 ; Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). ; Neurology ; 1997 ; 49(5) ; 1322-30
Jinnai ; K ; 2712 ; A case of mitochondrial myopathy, encephalopathy and lactic acidosis due to cytochrome c oxidase deficiency with neurogenic muscular changes. ; Eur Neurol ; 1990 ; 30(1) ; 56-60
Johns ; DR ; 3590* ; The other human genome: mitochondrial DNA and disease. ; Nat Med ; 1996 ; 2(10) ; 1065-1068
Johns ; DR ; 1070* ; Mitochondrial DNA and disease. [Review] ; New England Journal of Medicine ; 1995 ; 333(10) ; 638-44
Johnson ; MC ; 1543* ; The genetic basis of paediatric heart disease. [Review] ; Annals of Medicine ; 1995 ; 27(3) ; 289-300
Johnston ; W ; 618* ; Late-onset mitochondrial myopathy [see comments]. ; Annals of Neurology ; 1995 ; 37(1) ; 16-23
Jones ; KJ ; 5958 ; External ophthalmoplegia in neuromuscular disorders: case report and review of the literature. ; Neuromuscul Disord ; 1997 ; 7(3) ; 143-51
Kadenbach ; B ; 3603 ; Decreased performance in the elderly. Etiology: stochastic mutations of mitochondrial DNA? ; Fortschr Med ; 1995 ; 113(35-36) ; 510
Kadenbach ; B ; 1531* ; Human aging is associated with stochastic somatic mutations of mitochondrial DNA. [Review] ; Mutation Research ; 1995 ; 338(1-6) ; 161-72
Kagawa ; Y ; 5962 ; Gene therapy of mitochondrial diseases using human cytoplasts. ; Gene Ther ; 1997 ; 4(1) ; 6-10
Kagen ; LJ ; 1673 ; Myositis and myopathies [editorial]. ; Current Opinion in Rheumatology ; 1994 ; 6(6) ; 549-51
Kaido ; M ; 3606* ; Alzheimer-type pathology in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) ; Acta Neuropathol ; 1996 ; 92(3) ; 312-318
Kaido ; M ; 1046* ; Focal cytochrome c oxidase deficiency in the brain and dorsal root ganglia in a case with mitochondrial encephalomyopathy (tRNA(Ile) 4269 mutation): histochemical, immunohistochemical, and ultrastructural study. ; Journal of the Neurological Sciences ; 1995 ; 131(2) ; 170-6
Kamakura ; K ; 1600 ; Recurrent respiratory failure in a patient with 3243 mutation in mitochondrial DNA [letter]. ; J Neurology ; 1995 ; 242(4) ; 253-5
Kamphorst ; W ; 3613 ; A congenital syndrome of mental deficiency, gait disturbance, sensorineural deafness and pigmentary retinopathy associated with premature atherosclerosis. ; Clin Neuropathol ; 1995 ; 14(4) ; 211-215
Kanazawa ; M ; 5964 ; Visualization of mitochondria with green fluorescent protein in cultured fibroblasts from patients with mitochondrial diseases. ; Biochem Biophys Res Commun ; 1997 ; 239(2) ; 580-4
Kao ; KP ; 669* ; Mitochondrial disease with encephalopathy or limb girdle myopathy: a report of five cases. ; Chung Hua i Hsueh Tsa Chih - Chinese Medical Journal ; 1994 ; 53(3) ; 173-8
Kapeller ; P ; 3615* ; Magnetic resonance imaging and spectroscopy of progressive cerebral involvement in Kearns Sayre Syndrome. ; J Neurol Sci ; 1996 ; 135(2) ; 126-130
Kapsa ; R ; 5965 ; The polymerase chain reaction in the study of mitochondrial genetics. ; J Biochem Biophys Methods ; 1997 ; 36(1) ; 31-50
Kartsonnis ; L.D. ; 26* ; The Neuropsychological Features of Mitochondrial Myopathies and Encephalomyopathies ; Archives of Neurology ; 1992 ; 49 ; 159-160
Kaukonen ; JA ; 3618* ; An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. ; Am J Hum Genet ; 1996 ; 58(4) ; 763-769
Kawai ; H ; 1098* ; Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. [Review] ; Muscle & Nerve ; 1995 ; 18(7) ; 753-60
Kawakami ; Y ; 681* ; Mitochondrial myopathy with progressive decrease in mitochondrial tRNA(Leu)(UUR) mutant genomes. ; Annals of Neurology ; 1994 ; 35(3) ; 370-3
Kawarai ; T ; 5970 ; A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G. ; Neurology ; 1997 ; 49(2) ; 598-600
Kawashima ; S ; 657* ; Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy. ; Muscle & Nerve ; 1994 ; 17(7) ; 741-6
Kelly ; A. ; 64* ; Mitochondrial myopathy and anaesthesia ; ; ; ; 596
Kenny ; Dermot ; 142* ; Kearns-Sayre syndrome in the elderly: Mitochondrial myopathy with advanced heart block ; American Heart Journal ; 1990 ; 4/4/21342 ; 440-3
Kerr ; DS ; 5974 ; Protean manifestations of mitochondrial diseases: a minireview. ; J Pediatr Hematol Oncol ; 1997 ; 19(4) ; 279-86
Keyes ; MA ; 3625 ; Mitochondrial myopathies: an unusual cause of hypotonia in infants and children. ; Paediatr Anaesth ; 1996 ; 6(4) ; 329-335
Kiechle ; FL ; 3627* ; Mitochondrial disorders. Methods and specimen selection for diagnostic molecular pathology. ; Arch Pathol Lab Med ; 1996 ; 120(6) ; 597-603
Kim ; SH ; 5979 ; Quantitative analysis of mitochondrial DNA deletion in paraffin embedded muscle tissues from patients with KSS and CPEO. ; Biochim Biophys Acta ; 1997 ; 1360(3) ; 193-5
Kim ; SH ; 5980 ; Characterization of a mitochondrial DNA deletion in patients with mitochondrial myopathy. ; Mol Cells ; 1997 ; 7(6) ; 726-9
Kim ; IO ; 3629* ; Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children. ; AJR Am J Roentgenol ; 1996 ; 166(3) ; 641-645
Kimura ; S ; 3631* ; Improvement of lesions shown on MRI and CT scan by administration of dichloroacetate in patients with Leigh syndrome. ; J Neurol Sci ; 1995 ; 134(1-2) ; 103-107
Kimura ; M ; 5982 ; Magnetic resonance imaging with fluid-attenuated inversion recovery pulse sequences in MELAS syndrome. ; Pediatr Radiol ; 1997 ; 27(2) ; 153-4
King ; MP ; 835 ; Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. ; Molecular & Cellular Biology ; 1992 ; 12(2) ; 480-90
Kishi ; T ; 5986 ; Superior mesenteric artery syndrome complicating mitochondrial encephalopathy. ; J Pediatr Gastroenterol Nutr ; 1998 ; 26(4) ; 464-7
Kishimoto ; M ; 598 ; Diabetes mellitus carrying a mutation in the mitochondrial tRNA(Leu(UUR)) gene. ; Diabetologia ; 1995 ; 38(2) ; 193-200
Kishnani ; PS ; 5987 ; Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene. ; Eur J Pediatr ; 1996 ; 155(10) ; 898-903
Kitoh ; T ; 1103* ; Anesthetic management for a patient with Kearns-Sayre syndrome. ; Anesthesia & Analgesia ; 1995 ; 80(6) ; 1240-2
Kiyomoto ; BH ; 5988 ; Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia. ; J Neurol Sci ; 1997 ; 152(2) ; 160-5
Kleinle ; S ; 5989 ; Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR. ; Hum Genet ; 1997 ; 100(5-6) ; 643-50
Kleppe ; B ; 3639 ; Findings in 100 patients with idiopathic increase in serum creatine kinase activity ; Med Klin ; 1995 ; 90(11) ; 623-627
Klimek ; A ; 5990 ; A case of mitochondrial myopathy with MELAS-like features and polyneuropathy: ultrastructural and molecular studies. ; Pol J Pathol ; 1997 ; 48(3) ; 197-200
Klopstock ; T ; 3642* ; Mitochondrial DNA in migraine with aura. ; Neurology ; 1996 ; 46(6) ; 1735-1738
Knight ; JA ; 5992 ; Reactive oxygen species and the neurodegenerative disorders. ; Ann Clin Lab Sci ; 1997 ; 27(1) ; 11-25
Kobayashi ; Y ; 1000 ; Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). ; American Journal of Human Genetics ; 1991 ; 49(3) ; 590-9
Kobayashi ; Y. ; 107* ; The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations. ; Journal of Inherited Metabolic Disease ; 1992 ; 15(5) ; 803-8
Kodaka ; R ; 3647 ; A transcranial doppler ultrasonography study of cerebrovascular CO2 reactivity in mitochondrial encephalomyopathy. ; Stroke ; 1996 ; 27(8) ; 1350-1353
Koga ; SJ ; 1042 ; MELAS syndrome. [Review] ; Western Journal of Medicine ; 1995 ; 163(4) ; 379-81
Kokawa ; N ; 5994 ; Pregnancy and delivery complicated by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ; Obstet Gynecol ; 1998 ; 91(5 Pt 2) ; 865
Koller ; H ; 5995 ; Postpartum manifestation of a necrotising lipid storage myopathy associated with muscle carnitine deficiency [letter] ; J Neurol Neurosurg Psychiatry ; 1998 ; 64(3) ; 407-8
Kong ; J ; 5997 ; Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1. ; J Neurosci ; 1998 ; 18(9) ; 3241-50
Kosinski ; C ; 1052* ; Evidence for cardioembolic stroke in a case of Kearns-Sayre syndrome. ; Stroke ; 1995 ; 26(10) ; 1950-2
Kotsimbos ; N ; 632 ; Rapid and noninvasive screening of patients with mitochondrial myopathy. ; Human Mutation ; 1994 ; 4(2) ; 132-5
Koutroumanidis ; M ; 6003 ; Reduced brain stem excitability in mitochondrial myopathy: evidence for early detection with blink reflex habituation studies. ; Muscle Nerve ; 1996 ; 19(12) ; 1586-95
Kovalenko ; SA ; 3655* ; Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy. ; Biochem Biophys Res Commun ; 1996 ; 222(2) ; 201-207
Krendal ; D.A. ; 106* ; Mitochondrial myopathy or chronic inflammatory demyelinating polyneuropathy (CIPD)? ; Archives of Neurology ; 1992 ; 49(11) ; 1111
Kunishige ; M ; 3670* ; Localization and amount of myoglobin and myoglobin mRNA in ragged-red fiber of patients with mitochondrial encephalomyopathy. ; Muscle & Nerve ; 1996 ; 19(2) ; 175-182
Kunz ; D ; 2808 ; Oxygraphic evaluation of mitochondrial function in digitonin-permeabilized mononuclear cells and cultured skin fibroblasts of patients with chronic progressive external ophthalmoplegia. ; Biochem Mol Med ; 1995 ; 54(2) ; 105-11
Kunz ; D ; 6005 ; Flow cytometric detection of mitochondrial dysfunction in subpopulations of human mononuclear cells. ; Anal Biochem ; 1997 ; 246(2) ; 218-24
Kunz ; WS ; 6006 ; Detection of mitochondrial defects by laser fluorimetry. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 97-100
Kuroda ; Y ; 6007 ; Concomitant administration of sodium dichloroacetate and vitamin B1 for lactic acidemia in children with MELAS syndrome. ; J Pediatr ; 1997 ; 131(3) ; 450-2
Kuznetsov ; AV ; 6008 ; Application of inhibitor titrations for the detection of oxidative phosphorylation defects in saponin-skinned muscle fibers of patients with mitochondrial diseases. ; Biochim Biophys Acta ; 1997 ; 1360(2) ; 142-50
Laforet ; P ; 3675* ; Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. ; Neuromuscul Disord ; 1995 ; 5(5) ; 399-413
Lam ; CW ; 6009 ; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. ; Eur J Pediatr ; 1997 ; 156(7) ; 562-4
Land ; JM ; 1611* ; Neonatal carnitine palmitoyltransferase-2 deficiency: a case presenting with myopathy. ; Neuromuscular Disorders ; 1995 ; 5(2) ; 129-37
Largilliere ; C ; 1516* ; Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation. ; Archives of Disease in Childhood Fetal & Neonatal Edition ; 1995 ; 73(2) ; F103-5
Laubscher ; B ; 6011 ; Ragged-red fibers and complex I deficiency in a neonate with arthrogryposis congenita. ; Pediatr Neurol ; 1997 ; 17(3) ; 249-51
Le Forestier ; N ; 1053* ; Myasthenic symptoms in patients with mitochondrial myopathies. ; Muscle & Nerve ; 1995 ; 18(11) ; 1338-40
Lee ; CP ; 1589* ; Biochemical studies of isolated mitochondria from normal and diseased tissues. [Review] ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 21-8
Lee ; WT ; 3688 ; Cytochrome c oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy. ; J Formos Med Assoc ; 1996 ; 95(9) ; 709-711
Lee ; ML ; 665 ; Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS): report of a sporadic case and review of the literature. ; Acta Paediatrica Sinica ; 1994 ; 35(2) ; 148-56
Leff ; AP ; 6015 ; Complex partial status epilepticus in late-onset MELAS. ; Epilepsia ; 1998 ; 39(4) ; 438-41
Lestienne ; P ; 1092* ; Role of the mitochondrial DNA and calmitine in myopathies. [Review] ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 159-63
Letellier ; T ; 811 ; Mitochondrial myopathy studies on permeabilized muscle fibers. ; Pediatric Research ; 1992 ; 32(1) ; 17-22
Levak-Frank ; S ; 1557 ; Muscle-specific overexpression of lipoprotein lipase causes a severe myopathy characterized by proliferation of mitochondria and peroxisomes in transgenic mice. ; J Clinical Investigation ; 1995 ; 96(2) ; 976-86
Li ; JY ; 3701 ; MELAS syndrome associated with a tandem duplication in the D-loop of mitochondrial DNA. ; Acta Neurol Scand ; 1996 ; 93(6) ; 450-455
Li ; Veronique ; 29* ; Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia. A muscular biochemical study of a mitochondrial disorder. ; Digestive Diseases & Sciences ; 1992 ; 37(3) ; 456-63
Lightowlers ; RN ; 6020 ; Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. ; Trends Genet ; 1997 ; 13(11) ; 450-5
Lindal ; S ; 786 ; Mitochondrial diseases and myopathies: a series of muscle biopsy specimens with ultrastructural changes in the mitochondria. ; Ultrastructural Pathology ; 1992 ; 16(3) ; 263-75
Linderholm ; H ; 805 ; Dependence of maximum performance time on work intensity in patients with a hereditary myopathy with succinate dehydrogenase deficiency. ; Clinical Physiology ; 1992 ; 12(5) ; 567-73
Lindner ; A ; 6022 ; Ophthalmoplegia plus: clinical relevance of magnetic resonance tomogaphy findings. ; Eur J Med Res ; 1997 ; 2(7) ; 311-4
Lindner ; A ; 6023 ; Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 297-303
Linnane ; AW ; 1590* ; The universality of bioenergetic disease and amelioration with redox therapy. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 191-4
Lloreta ; J ; 3714 ; Selective diaphragmatic mitochondrial abnormalities in a patient with marked air flow obstruction. ; Ultrastruct Pathol ; 1996 ; 20(1) ; 67-71
Lloreta ; J ; 3713 ; Hyperthyroid myopathy with mitochondrial paracrystalline rectangular inclusions. ; Ultrastruct Pathol ; 1996 ; 20(1) ; 61-65
Loftus ; AM ; 6026 ; Driving and stroke [letter; comment] ; Lancet ; 1997 ; 350(9088) ; 1402-3
Lombes ; A ; 3716 ; Clinical and molecular heterogeneity of cytochrome c oxidase deficiency in the newborn. ; J Inherit Metab Dis ; 1996 ; 19(3) ; 286-295
Love ; S ; 3722 ; Assessment of the distribution of mitochondrial ribosomal RNA in melas and in thrombotic cerebral infarcts by in situ hybridization. ; J Pathol ; 1996 ; 178(2) ; 182-189
Lowsky ; R ; 768 ; Familial visceral myopathy associated with a mitochondrial myopathy. ; Gut ; 1993 ; 34(2) ; 279-83
Lucas-Heron ; B ; 3725* ; Skeletal muscle of patients with Duchenne's muscular dystrophy: evidence of a mitochondrial proteolytic factor responsible for calmitine deficiency. ; Biochem Biophys Res Commun ; 1996 ; 223(1) ; 31-35
Lucas-Heron ; B ; 557* ; Muscular degeneration in Duchenne's dystrophy may be caused by a mitochondrial defect. ; Medical Hypotheses ; 1995 ; 44(4) ; 298-300
Lucas-Heron ; B ; 6029 ; A drug inhibits the mitochondrial protease inducing calmitine deficiency in skeletal muscle of patients with Duchenne's muscular dystrophy and dy/dy dystrophic mice. ; Biochem Biophys Res Commun ; 1997 ; 232(2) ; 559-61
Luft ; R ; 1095* ; The development of mitochondrial medicine. [Review] ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 1-6
Magalhaes ; PJ ; 3736 ; Ocular myopathy and mitochondrial DNA deletion. A presentation of seven identified Danish patients. ; Acta Ophthalmol Scand Suppl ; 1996 ; 219 ; 29-32
Majamaa ; K ; 3737* ; Increase of blood NAD+ and attenuation of lactacidemia during nicotinamide treatment of a patient with the MELAS syndrome. ; Life Sci ; 1996 ; 58(8) ; 691-699
Majamaa ; K ; 6037 ; Metabolic interventions against complex I deficiency in MELAS syndrome. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 291-6
Majamaa ; K ; 6036 ; The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct. ; Neurology ; 1997 ; 49(5) ; 1331-4
Malandrini ; A ; 562 ; Mitochondrial changes in steroid myopathy with respiratory failure and rapid fatal course: report of a case [letter]. ; Eur Neurol ; 1995 ; 35(3) ; 182-3
Malandrini ; A ; 3742* ; Early-onset benign limb-girdle myopathy with contractures and facial involvement affecting a father and daughter. ; J Neurol Sci ; 1995 ; 132(2) ; 195-200
Mancias ; P ; 1043 ; Amoxapine overdose in a young man: a transient mitochondrial abnormality?. ; Pharmacotherapy ; 1995 ; 15(4) ; 528-32
Manfredi ; G ; 3750* ; Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy. ; Human Mutation ; 1996 ; 7(2) ; 158-163
Manfredi ; G ; 6041 ; Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic? ; Ann Neurol ; 1997 ; 42(2) ; 180-8
Manfredi ; G ; 3748* ; A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. ; Neuromuscul Disord ; 1995 ; 5(5) ; 391-398
Manfredi ; G ; 595* ; High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy. ; Neurology ; 1995 ; 45(4) ; 762-8
Marchington ; DR ; 6043 ; Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck. ; Am J Hum Genet ; 1997 ; 60(2) ; 408-16
Marin-Garcia ; J ; 6044 ; Mitochondrial cardiomyopathy: molecular and biochemical analysis. ; Pediatr Cardiol ; 1997 ; 18(4) ; 251-60
Mariotti ; C ; 680 ; Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy. ; J Clinical Investigation ; 1994 ; 93(3) ; 1102-7
Mariotti ; C ; 3760 ; Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular- genetic study. ; J Neurology ; 1995 ; 242(9) ; 547-556
Mariotti ; C ; 1068 ; Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. ; J Neurology ; 1995 ; 242(5) ; 304-12
Marrades ; RM ; 3762 ; Cellular bioenergetics after erythropoietin therapy in chronic renal failure. ; J Clinical Investigation ; 1996 ; 97(9) ; 2101-2110
Martin-Du Pan ; RC ; 3767 ; Myoglobinuria and familial hematuria with dominant autosomal transmission: mitochondrial disorder or basal lamina disorder? ; Rev Med Suisse Romande ; 1996 ; 116(9) ; 735-741
Marzuki ; S ; 6053 ; Developmental genetics of deleted mtDNA in mitochondrial oculomyopathy. ; J Neurol Sci ; 1997 ; 145(2) ; 155-62
Mashima ; Y ; 3769 ; Mitochondrial disease ; Nippon Ganka Gakkai Zasshi ; 1995 ; 99(6) ; 629-630
Masucci ; JP ; 6056 ; Point mutations in the mitochondrial tRNA(Lys) gene: implications for pathogenesis and mechanism. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 215-9
Masucci ; JP ; 1105 ; In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes. ; Molecular & Cellular Biology ; 1995 ; 15(5) ; 2872-81
Matsubara ; S ; 611* ; Mitochondrial changes in acute myopathy after treatment of respiratory failure with mechanical ventilation (acute relaxant-steroid myopathy). [Review] ; Acta Neuropathologica ; 1994 ; 88(5) ; 475-8
Matthews ; PM ; 6058 ; Applications of magnetic resonance spectroscopy to diagnosis and monitoring of mitochondrial disease. ; Ital J Neurol Sci ; 1997 ; 18(6) ; 341-51
Matthews ; PM ; 1066* ; Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA. ; Human Genetics ; 1995 ; 96(3) ; 261-8
McCarthy ; M ; 3784 ; Evaluation of the importance of maternal history of diabetes and of mitochondrial variation in the development of NIDDM. ; Diabet Med ; 1996 ; 13(5) ; 420-428
McEntagart ; M ; 6065 ; Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) in a Donegal kindred--clinical features and molecular genetic analysis. ; Ir Med J ; 1997 ; 90(4) ; 144-5
McKenzie ; R ; 872* ; Hepatic failure and lactic acidosis due to fialuridine (FIAU), an investigational nucleoside analogue for chronic hepatitis B [see comments]. ; New England Journal of Medicine ; 1995 ; 333(17) ; 1099-105
Melberg ; A ; 3792* ; Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. ; Muscle & Nerve ; 1996 ; 19(6) ; 751-757
Melberg ; A ; 6073 ; Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. ; Muscle Nerve ; 1996 ; 19(12) ; 1561-9
Melberg ; A ; 6072 ; Monozygotic twins with MELAS-like syndrome lacking ragged red fibers and lactacidaemia. ; Acta Neurol Scand ; 1996 ; 94(4) ; 233-41
Melberg ; A ; 6071 ; Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia. ; Neurology ; 1998 ; 50(1) ; 299-300
Melegh ; B ; 3793 ; Mitochondrial DNA deletion in hereditary cardio-encephalo-myopathy ; Orv Hetil ; 1995 ; 136(24) ; 1275-1279
Mendell ; JR ; 616* ; Mitochondrial myopathy in the elderly: exaggerated aging in the pathogenesis of disease [editorial; comment]. ; Annals of Neurology ; 1995 ; 37(1) ; 3-4
Mhiri ; C ; 2684 ; Zidovudine myopathy: a distinctive disorder associated with mitochondrial dysfunction. ; Ann Neurol ; 1991 ; 29(6) ; 606-14
Midro ; AT ; 3799 ; Retinitis pigmentosa in Kearns-Sayre syndrome resulting from mutation of mitochondrial DNA "de novo" ; Klin Oczna ; 1995 ; 97(6) ; 203-206
Mierzewska ; H ; 3800 ; Mitochondrial diseases. Part I -- general review ; Neurol Neurochir Pol ; 1996 ; 30(2) ; 265-278
Minamoto ; H ; 6080 ; Mitochondrial encephalomyopathy with elderly onset of stroke-like episodes [see comments] ; Intern Med ; 1996 ; 35(12) ; 991-5
Mintz ; M ; 3802 ; Carnitine in human immunodeficiency virus type 1 infection/acquired immune deficiency syndrome. ; J Child Neurol ; 1995 ; 10 ; S40-S44
Mita ; S ; 575* ; Mitochondrial DNA mutation and muscle pathology in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. [Review] ; Muscle & Nerve ; 1995 ; Suppl 3 ; S113-8
Mita ; S ; 6083 ; Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers. ; Muscle Nerve ; 1998 ; 21(4) ; 490-7
Mitsikostas ; D ; 3803* ; External ophthalmoplegia with ragged-red fibres and acetylcholine receptor antibodies. ; Funct Neurol ; 1995 ; 10(4-5) ; 209-215
Mitsui ; T ; 3804* ; Oxidative damage to skeletal muscle DNA from patients with mitochondrial encephalomyopathies. ; J Neurol Sci ; 1996 ; 139(1) ; 111-116
Miyamoto ; A ; 6087 ; Serial imaging in MELAS. ; Neuroradiology ; 1997 ; 39(6) ; 427-30
Miyaoka ; H ; 6088 ; Mental disorders in diabetic patients with mitochondrial transfer RNA(Leu) (UUR) mutation at position 3243. ; Biol Psychiatry ; 1997 ; 42(6) ; 524-6
Mizusawa ; H ; 1360 ; Peripheral neuropathy of mitochondrial myopathies. [Review] ; Revue Neurologique ; 1991 ; 147(6-7) ; 501-7
Modi ; G ; 831 ; Vitelliform macular degeneration associated with mitochondrial myopathy. ; British Journal of Ophthalmology ; 1992 ; 76(1) ; 58-60
Moglia ; A ; 1056 ; Twitch response of striated muscle in patients with progressive external ophthalmoplegia, mitochondrial myopathy and focal cytochrome c-oxidase deficiency. ; Italian Journal of Neurological Sciences ; 1995 ; 16(3) ; 159-66
Molnar ; M ; 3811* ; A large-scale deletion of mitochondrial DNA in a case with pure mitochondrial myopathy and neuropathy. ; Acta Neuropathol ; 1996 ; 91(6) ; 654-658
Molnar ; M ; 3812 ; Increase of mitochondria in vasa nervorum of cases with mitochondrial myopathy, Kearns-Sayre syndrome, progressive external ophthalmoplegia and MELAS. ; Neuropathology & Applied Neurobiology ; 1995 ; 21(5) ; 432-439
Mongini ; T ; 822 ; Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case. ; European Neurology ; 1992 ; 32(3) ; 170-6
Montagna ; P ; 6095 ; A case of cluster headache associated with mitochondrial DNA deletions [letter; comment] ; Muscle Nerve ; 1998 ; 21(1) ; 127-9
Moraes ; CT ; 6096 ; Mitochondrial disorders [see comments] ; Curr Opin Neurol ; 1996 ; 9(5) ; 369-74
Moraes ; CT ; 3816 ; Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR. ; Meth Enzymol ; 1996 ; 264 ; 522-540
Morgan ; KG ; 6097 ; Mitochondrial cardiomyopathy [letter] ; Eur Heart J ; 1996 ; 17(10) ; 1600
Morgan-Hughes ; JA ; 1094* ; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 135-40
Morris ; AA ; 1614* ; The investigation of mitochondrial respiratory chain disease. ; Journal of the Royal Society of Medicine ; 1995 ; 88(4) ; 217P-222P
Morten ; KJ ; 3825 ; Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype. ; Human Molecular Genetics ; 1995 ; 4(9) ; 1689-1691
Moslemi ; AR ; 6102 ; Analysis of multiple mitochondrial DNA deletions in inclusion body myositis. ; Hum Mutat ; 1997 ; 10(5) ; 381-6
Moudy ; AM ; 1120 ; Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy. ; Proc Natl Acad Sci USA ; 1995 ; 92(3) ; 729-33
Mourmans ; J ; 6103 ; Clinical heterogeneity in respiratory chain complex III deficiency in childhood. ; J Neurol Sci ; 1997 ; 149(1) ; 111-7
Mousson ; B ; 1526* ; An abnormal exercise test response revealing a respiratory chain complex III deficiency. ; Acta Neurologica Scandinavica ; 1995 ; 91(6) ; 488-93
Mrak ; RE ; 2112* ; Broad A bands of striated muscle in Leber's congenital amaurosis: a new congenital myopathy? [see comments]. ; Neurology ; 1993 ; 43(4) ; 838-41
Muller-Hocker ; J ; 6104 ; The common 4977 base pair deletion of mitochondrial DNA preferentially accumulates in the cardiac conduction system of patients with Kearns- Sayre syndrome. ; Mod Pathol ; 1998 ; 11(3) ; 295-301
Muller-Hocker ; J ; 3837 ; Cytochemistry and immunocytochemistry of cytochrome-c oxidase at electron microscope level. ; Meth Enzymol ; 1996 ; 264 ; 540-555
Muller-Hocker ; J ; 1448 ; Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies. ; Virchows Archiv - A, Pathological Anatomy & Histopathology ; 1991 ; 419(4) ; 355-62
Mullie ; M.A. ; 129* ; The Retinal Manifestations of Mitochondrial Myopathy: A Study of 22 Cases ; Arch Ophthalmol ; 1985 ; 103 ; 1825-30
Mundegar ; RR ; 3838* ; Increased laminin A expression in regenerating myofibers in neuromuscular disorders. ; Muscle & Nerve ; 1995 ; 18(9) ; 992-999
Munnich ; A ; 3839* ; Clinical presentations and laboratory investigations in respiratory chain deficiency. ; Eur J Pediatr ; 1996 ; 155(4) ; 262-274
Myong ; NH ; 692* ; Multicore myopathy--a case report. ; Journal of Korean Medical Science ; 1993 ; 8(4) ; 312-7
Naguib ; M ; 3848* ; Sensitivity to mivacurium in a patient with mitochondrial myopathy. ; Anesthesiology ; 1996 ; 84(6) ; 1506-1509
Nakagawa ; M ; 1051* ; Familial mitochondrial encephalomyopathy with deaf-mutism, ophthalmoplegia and leukodystrophy. ; Acta Neurologica Scandinavica ; 1995 ; 92(1) ; 102-8
Nakamura ; N ; 3852* ; Specific detection of deleted mitochondrial DNA by in situ hybridization using a chimera probe. ; Biochim Biophys Acta ; 1996 ; 1308(3) ; 215-221
Nakamura ; Y ; 3853 ; Abnormal evoked potentials of Kearns-Sayre syndrome. ; Electromyogr Clin Neurophysiol ; 1995 ; 35(6) ; 365-370
Nakamura ; M ; 1064* ; A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. ; Biochemical & Biophysical Research Communications ; 1995 ; 214(1) ; 86-93
Nakamura ; S ; 2673 ; In situ hybridization of muscle mitochondrial mRNA in mitochondrial myopathies. ; Acta Neuropathol (Berl) ; 1990 ; 81(1) ; 1-6
Naumann ; M ; 590* ; Mitochondrial dysfunction in adult-onset myopathies with structural abnormalities. ; Acta Neuropathologica ; 1995 ; 89(2) ; 152-7
Naumann ; M ; 6117 ; Mitochondrial dysfunction with myoclonus epilepsy and ragged-red fibers point mutation in nerve, muscle, and adipose tissue of a patient with multiple symmetric lipomatosis. ; Muscle Nerve ; 1997 ; 20(7) ; 833-9
Nelson ; I ; 600* ; A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. ; Annals of Neurology ; 1995 ; 37(3) ; 400-3
Neuwald ; AF ; 6119 ; Barth syndrome may be due to an acyltransferase deficiency [letter] ; Curr Biol ; 1997 ; 7(8) ; R465-6
Niaudet ; P ; 3864 ; Renal involvement in mitochondrial cytopathies. ; Pediatr Nephrol ; 1996 ; 10(3) ; 368-373
Nicoll ; JA ; 727 ; Clinical and autopsy findings in two cases of MELAS presenting with stroke-like episodes but without clinical myopathy. ; Clin Neuropathol ; 1993 ; 12(1) ; 38-43
Nijtmans ; LG ; 3866* ; Assembly of mitochondrial ATP synthase in cultured human cells: implications for mitochondrial diseases. ; Biochim Biophys Acta ; 1995 ; 1272(3) ; 190-198
Nijtmans ; LG ; 1108* ; Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy. ; Biochimica et Biophysica Acta ; 1995 ; 1270(2-3) ; 193-201
Ning ; C ; 6121 ; Gas chromatographic-mass spectrometric metabolic profiling of patients with fatal infantile mitochondrial myopathy with de Toni-Fanconi-Debre syndrome. ; Acta Paediatr Jpn ; 1996 ; 38(6) ; 661-6
Ning ; C ; 3868* ; Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-de Toni-Fanconi-Debre syndrome by GC/MS ; Clin Chim Acta ; 1996 ; 247(1-2) ; 197-200
Nishino ; I ; 3872 ; A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy. ; Biochem Biophys Res Commun ; 1996 ; 225(1) ; 180-185
Nishino ; I ; 3873* ; The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). ; Muscle & Nerve ; 1996 ; 19(12) ; 1603-1604
Nishio ; KT ; 6123 ; A family affected by mitochondrial encephalomyopathy: a nursing protocol. ; Clin Nurse Spec ; 1997 ; 11(5) ; 195-201,
202-3Nonaka ; I ; 6125 ; Mitochondria DNA mutations induce variable clinical symptoms including "stroke" in younger and aged persons [editorial; comment] ; Intern Med ; 1996 ; 35(12) ; 924
North ; K ; 3878 ; Oxidative phosphorylation defect associated with primary adrenal insufficiency. ; J Pediatr ; 1996 ; 128(5) ; 688-692
O'Gorman ; OE ; 6131 ; Mitochondrial intermembrane inclusion bodies: the common denominator between human mitochondrial myopathies and creatine depletion, due to impairment of cellular energetics. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 283-9
O'Keeffe ; ST ; 1114* ; Ekbom's syndrome [letter; comment]. ; Muscle & Nerve ; 1995 ; 18(4) ; 478
O'Rourke ; KS ; 3904* ; Muscle biopsy. ; Curr Opin Rheumatol ; 1995 ; 7(6) ; 462-8
Odawara ; M ; 3884* ; Mitochondrial DNA and disease ; N Engl J Med ; 1996 ; 334(4) ; 270-271
Odawara ; M ; 6127 ; Diabetes mellitus associated with mitochondrial myopathy and schizophrenia: a possible link between diabetes mellitus and schizophrenia [letter] ; Diabet Med ; 1997 ; 14(6) ; 503
Odawara ; M ; 3883 ; Are MELAS and diabetes mellitus caused solely by the same mutation at np 3243 of the mitochondrial gene? ; Diabetologia ; 1995 ; 38(12) ; 1488-1490
Odawara ; M ; 1096 ; Mitochondrial gene mutation as a cause of insulin resistance [letter; comment]. ; Diabetes Care ; 1995 ; 18(2) ; 275
Odawara ; M ; 6126 ; Mitochondrial gene abnormalities and alpha- and beta-cell dysfunction [letter; comment] ; Diabetes Care ; 1996 ; 19(10) ; 1166-7
Oexle ; K ; 6129 ; Advanced telomere shortening in respiratory chain disorders. ; Hum Mol Genet ; 1997 ; 6(6) ; 905-8
Oexle ; K ; 3887* ; Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation. ; Exp Clin Endocrinol Diabetes ; 1996 ; 104(3) ; 212-217
Ogle ; RF ; 6130 ; Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin. ; J Pediatr ; 1997 ; 130(1) ; 138-45
Ohkoshi ; N ; 6132 ; Histological determination of nitric oxide synthase (NOS) and NADPH- diaphorase in ragged-red fibers from patients with mitochondrial encephalomyopathies. ; J Neurol Sci ; 1997 ; 149(2) ; 151-6
Ohkoshi ; N ; 1054* ; Superoxide dismutases of muscle in mitochondrial encephalomyopathies. ; Muscle & Nerve ; 1995 ; 18(11) ; 1265-71
Ohkubo ; M ; 3890* ; Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy. ; Pediatr Cardiol ; 1996 ; 17(1) ; 53-56
Ohkura ; M ; 3891 ; Werdnig-Hoffmann disease type I with progressive ophthalmoplegia and ptosis ; No To Hattatsu ; 1996 ; 28(4) ; 332-335
Ohno ; K ; 6133 ; MELAS presenting as migraine complicated by stroke: case report. ; Neuroradiology ; 1997 ; 39(11) ; 781-4
Ohno ; K ; 3892* ; MELAS- and Kearns-Sayre-type commutation with myopathy and autoimmune polyendocrinopathy. ; Ann Neurol ; 1996 ; 39(6) ; 761-766
Ohta ; S ; 3893 ; Genetic diagnosis of mitochondrial diseases ; Nippon Ika Daigaku Zasshi ; 1995 ; 62(5) ; 516-519
Okamoto ; K ; 6135 ; Atrophy of bilateral extraocular muscles. CT and clinical features of seven patients. ; J Neuroophthalmol ; 1996 ; 16(4) ; 286-8
Oldfors ; A ; 577* ; Mitochondrial DNA deletions in muscle fibers in inclusion body myositis. ; Journal of Neuropathology & Experimental Neurology ; 1995 ; 54(4) ; 581-7
Oliveira ; AS ; 3898 ; Acute necrotizing myopathy and podophyllin toxicity. Report of a fatal case. ; Arq Neuropsiquiatr ; 1996 ; 54(2) ; 288-292
Onishi ; Hideki ; 279* ; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: molecular genetic analysis and family study ; Journal of the Neurological Sciences ; 1993 ; 114(2) ; 205-8
Onishi ; H ; 6137 ; Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation. ; J Med Genet ; 1998 ; 35(3) ; 255-7
Ooiwa ; Y ; 272* ; Cerebral blood flow in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. ; Stroke ; 1993 ; 24(2) ; 304-9
Orii ; KO ; 3903* ; Genomic DNA organization of human mitochondrial very-long-chain acyl- CoA dehydrogenase and mutation analysis. ; Biochem Biophys Res Commun ; 1995 ; 217(3) ; 987-992
Orii ; KE ; 6139 ; Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. ; Hum Mol Genet ; 1997 ; 6(8) ; 1215-24
Osaki ; Y ; 6140 ; Mitochondrial abnormalities in selenium-deficient myopathy. ; Muscle Nerve ; 1998 ; 21(5) ; 637-9
Oshima ; T ; 3906 ; Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome. ; Laryngoscope ; 1996 ; 106(1) ; 43-48
Ota ; Y ; 634* ; Early retinal involvement in mitochondrial myopathy with mitochondrial DNA deletion. ; Retina ; 1994 ; 14(3) ; 270-6
Ozawa ; M ; 3909* ; The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings. ; Neuromuscul Disord ; 1995 ; 5(6) ; 483-488
Ozawa ; T ; 558* ; Extensive tissue oxygenation associated with mitochondrial DNA mutations. ; Biochemical & Biophysical Research Communications ; 1995 ; 213(2) ; 432-8
Ozawa ; T ; 1591* ; Mechanism of somatic mitochondrial DNA mutations associated with age and diseases. [Review] ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 177-89
Ozawa ; T ; 1537* ; Mitochondrial DNA mutations associated with aging and degenerative diseases. [Review] ; Experimental Gerontology ; 1995 ; 30(3-4) ; 269-90
Ozawa ; T ; 1633* ; Genotype and phenotype of severe mitochondrial cardiomyopathy: a recipient of heart transplantation and the genetic control. ; Biochemical & Biophysical Research Communications ; 1995 ; 207(2) ; 613-20
Ozawa ; M ; 6143 ; Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families. ; Muscle Nerve ; 1997 ; 20(3) ; 271-8
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