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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
Arenas ; J ; 3144 ; Molecular genetics of mitochondrial cytopathologies ; Neurologia ; 1995 ; 10 ; 44-49
Bader-Meunier ; B ; 846* ; Refractory anaemia and mitochondrial cytopathy in childhood. ; British Journal of Haematology ; 1994 ; 87(2) ; 381-5
Barbiroli ; B ; 756 ; Defective brain energy metabolism shown by in vivo 31P MR spectroscopy in 28 patients with mitochondrial cytopathies. ; Journal of Cerebral Blood Flow & Metabolism ; 1993 ; 13(3) ; 469-74
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
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
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
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
Bioulac-Sage ; P ; 847 ; Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver. ; Hepatology ; 1993 ; 18(4) ; 839-46
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
Buemi ; M ; 5746 ; Renal failure from mitochondrial cytopathies. ; Nephron ; 1997 ; 76(3) ; 249-53
Castro-Gago ; M ; 3278* ; Severe myoclonic epilepsy associated with mitochondrial cytopathy. ; Childs Nerv Syst ; 1995 ; 11(11) ; 630-633
Castro-Gago ; M ; 5760 ; Severe myoclonic epilepsy and mitochondrial cytopathy [letter; comment] ; Childs Nerv Syst ; 1997 ; 13(11-12) ; 570-1
Cursiefen ; C ; 5798 ; Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. ; Am J Ophthalmol ; 1998 ; 125(2) ; 260-1
Damian ; MS ; 3331* ; VACTERL with the mitochondrial np 3243 point mutation. ; Am J Med Genet ; 1996 ; 62(4) ; 398-403
Egger ; J. ; 69* ; Mitochondrial Cytopathy or Leigh's Syndrome? Mitochondrial Abnormalities in Spongiform Encephalopathies ; Neuropediatrics ; 1982 ; 13 ; 219-224
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
Fayon ; M ; 853 ; Fatal neonatal liver failure and mitochondrial cytopathy: an observation with antenatal ascites. ; Gastroenterology ; 1992 ; 103(4) ; 1332-5
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
Fujii ; T ; 1031 ; MELAS of infantile onset: mitochondrial angiopathy or cytopathy?. ; Journal of the Neurological Sciences ; 1991 ; 103(1) ; 37-41
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
Haas ; RH ; 2649* ; Lactic Acidosis / Mitochondrial Encephalomyopathies and other Mitochondrial Cytopathies ; ; 1994 ; ; 1-16
Hess ; J ; 843* ; Ischaemic colitis due to mitochondrial cytopathy [letter]. ; Lancet ; 1995 ; 346(8968) ; 189-90
Krahenbuhl ; S ; 3657* ; Determination of the activities of the enzyme complexes of the electron transport chain in human fibroblasts. ; Clin Chim Acta ; 1996 ; 253(1-2) ; 79-90
Kyriakides ; T ; 845* ; No structural or biochemical evidence for mitochondrial cytopathy in a case of alternating hemiplegia of childhood [letter]. ; Annals of Neurology ; 1994 ; 36(5) ; 805-6
Melegh ; B ; 6074 ; Valproate treatment induces lipid globule accumulation with ultrastructural abnormalities of mitochondria in skeletal muscle. ; Neuropediatrics ; 1997 ; 28(5) ; 257-61
Muller-Hocker ; J ; 851 ; Random cytochrome-C-oxidase deficiency of oxyphil cell nodules in the parathyroid gland. A mitochondrial cytopathy related to cell ageing?. ; Pathology, Research & Practice ; 1992 ; 188(6) ; 701-6
Mullges ; W ; 902 ; A case of myoclonus epilepsy and lactic acidosis: difficulties in diagnosis and treatment of terminal mitochondrial cytopathy [letter]. ; Intensive Care Med ; 1994 ; 20(8) ; 613-4
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
Niaudet ; P ; 3864 ; Renal involvement in mitochondrial cytopathies. ; Pediatr Nephrol ; 1996 ; 10(3) ; 368-373
Otani ; M ; 3907 ; Histiocytoid cardiomyopathy with hypotonia in an infant. ; Pathol Int ; 1995 ; 45(10) ; 774-780
Paquis ; V ; 3921 ; Mitochondrial cytopathies: identification of responsible nuclear genes ; Arch Pediatr ; 1996 ; 3(9) ; 915-916
Robeck ; S ; 3992 ; Follow-up studies and disorders of endocrinologic function in MELAS syndrome ; Nervenarzt ; 1996 ; 67(6) ; 465-470
Rotig ; A ; 4005 ; Mitochondrial cytopathies (editorial) ; Pathol Biol ; 1996 ; 44(4) ; 229-231
Schapira ; AH ; 1231* ; Mitochondrial cytopathies. [Review] ; Current Opinion in Neurobiology ; 1993 ; 3(5) ; 760-7
Siregar ; NC ; 6247 ; Genotypic and phenotypic changes in exhaustively grown cell lines from mitochondrial cytopathy patients. ; Muscle Nerve ; 1998 ; 21(5) ; 599-609
Tarnopolsky ; MA ; 6308 ; A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. ; Muscle Nerve ; 1997 ; 20(12) ; 1502-9
Taylor ; RW ; 1790* ; The control of mitochondrial oxidations by complex III in rat muscle and liver mitochondria. Implications for our understanding of mitochondrial cytopathies in man. ; Journal of Biological Chemistry ; 1994 ; 269(5) ; 3523-8
Thomson ; M ; 6322 ; Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplant in childhood [see comments] ; J Pediatr Gastroenterol Nutr ; 1998 ; 26(4) ; 478-81
Thyagarajan ; D ; 1312 ; The molecular genetics of mitochondrial cytopathies: the Melbourne experience. ; Clinical & Experimental Neurology ; 1992 ; 29 ; 172-81
Torbergsen ; T ; 855 ; Nerve-muscle involvement in a large family with mitochondrial cytopathy: electrophysiological studies. ; Muscle & Nerve ; 1991 ; 14(1) ; 35-41
Toscano ; A ; 844 ; Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C. ; J Neurology ; 1995 ; 242(4) ; 203-9
Trounce ; I ; 854 ; Affinity chromatography isolation of human cytochrome oxidase and small-scale Western immunoblot probing of the enzyme complex in mitochondrial cytopathy patients. ; Biochemical Medicine & Metabolic Biology ; 1991 ; 46(1) ; 17-27
van Domburg ; PH ; 4210* ; Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status. ; Brain ; 1996 ; 119( Pt 3) ; 997-1010
Walker ; UA ; 4235* ; Respiratory chain encephalomyopathies: a diagnostic classification. ; Eur Neurol ; 1996 ; 36(5) ; 260-267
Wang ; H ; 4240 ; Zidovudine and dideoxynucleosides deplete wild-type mitochondrial DNA levels and increase deleted mitochondrial DNA levels in cultured Kearns- Sayre syndrome fibroblasts. ; Biochim Biophys Acta ; 1996 ; 1316(1) ; 51-59
Warrick ; PD ; 6366 ; Sensorineural hearing loss in MELAS syndrome. ; J Laryngol Otol ; 1997 ; 111(3) ; 279-81
Wong ; KT ; 4261* ; Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. ; Neuromuscul Disord ; 1996 ; 6(3) ; 163-166