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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
Acharya ; JN ; 1075* ; Familial progressive myoclonus epilepsy: clinical and electrophysiologic observations. ; Epilepsia ; 1995 ; 36(5) ; 429-34
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
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
Bank ; W ; 5700 ; Diagnosis of defects in oxidative muscle metabolism by non-invasive tissue oximetry. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 7-10
Berkovic ; SF ; 1283* ; Progressive myoclonus epilepsies: clinical and genetic aspects. [Review] ; Epilepsia ; 1993 ; 34 Suppl 3 ; S19-30
Bindoff ; LA ; 2312 ; Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study. [Review] ; Journal of the Neurological Sciences ; 1991 ; 102(1) ; 17-24
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
Blumenthal ; DT ; 5728 ; Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions. ; Neurology ; 1998 ; 50(2) ; 524-5
Boulet ; L ; 1320 ; Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). ; American Journal of Human Genetics ; 1992 ; 51(6) ; 1187-200
Calabresi ; PA ; 584* ; Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF [see comments]. ; Muscle & Nerve ; 1994 ; 17(8) ; 943-5
Campos ; Y ; 1159* ; Genetic analysis of one family with myoclonic epilepsy and ragged-red fibers (MERRF) [letter; comment]. ; Muscle & Nerve ; 1994 ; 17(10) ; 1229-31
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
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
Carroll ; PV ; 5755 ; Growth hormone therapy may benefit protein metabolism in mitochondrial encephalomyopathy. ; Clin Endocrinol (Oxf) ; 1997 ; 47(1) ; 113-7
Chen ; RS ; 734* ; Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies. ; Acta Neurologica Scandinavica ; 1993 ; 87(6) ; 494-8
Chen ; RS ; 3290* ; Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome. ; Muscle & Nerve ; 1996 ; 19(4) ; 519-521
Chinnery ; PF ; 5773 ; Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. ; Brain ; 1997 ; 120 ( Pt 10) ; 1713-21
Chomyn ; A ; 1184* ; Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers. ; American Journal of Human Genetics ; 1994 ; 54(6) ; 966-74
Chu ; CC ; 5781 ; Peripheral neuropathy in mitochondrial encephalomyopathies. ; Eur Neurol ; 1997 ; 37(2) ; 110-5
Collins ; S ; 565* ; Contrasting histochemical features of various mitochondrial syndromes. ; Acta Neurologica Scandinavica ; 1995 ; 91(4) ; 287-93
Coquet ; M ; 1212 ; Merrf family with 8344 mutation in tRNA (lys). Evidence of a mitochondrial vasculopathy in muscle biopsies. ; Neuromuscular Disorders ; 1993 ; 3(5-6) ; 593-7
Di Lazzaro ; V ; 5818 ; Functional involvement of central nervous system in mitochondrial disorders. ; Electroencephalogr Clin Neurophysiol ; 1997 ; 105(3) ; 171-80
Enriquez ; JA ; 3390 ; Analysis of aminoacylation of human mitochondrial tRNAs. ; Meth Enzymol ; 1996 ; 264 ; 183-196
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
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
Fang ; W ; 1204* ; Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene [see comments]. ; Muscle & Nerve ; 1994 ; 17(1) ; 52-7
Folgero ; T ; 563* ; The 3243 MELAS mutation in a pedigree with MERRF. ; Eur Neurol ; 1995 ; 35(3) ; 168-71
Fukuhara ; N ; 1080* ; Clinicopathological features of MERRF. ; Muscle & Nerve ; 1995 ; Suppl 3 ; S90-4
Goldberg-Stern ; H ; 3455 ; The importance of molecular genetics in epilepsy ; Harefuah ; 1996 ; 131(3-4) ; 104-107
Graeber ; MB ; 5886 ; Recent developments in the molecular genetics of mitochondrial disorders. ; J Neurol Sci ; 1998 ; 153(2) ; 251-63
Hammans ; S R ; 365* ; The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. ; Brain ; 1993 ; 116 (pt3)) ; 617-32
Hanna ; MG ; 3499* ; Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A-->G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA. ; J Neurol Sci ; 1995 ; 130(2) ; 154-160
Hofmann ; S ; 5922 ; Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. ; Genomics ; 1997 ; 39(1) ; 8-18
Holme ; E ; 1088* ; Inheritance and expression of mitochondrial DNA point mutations. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 249-52
Holme ; E ; 1295* ; Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. ; American Journal of Human Genetics ; 1993 ; 52(3) ; 551-6
Howell ; N ; 3541* ; Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. ; Neurology ; 1996 ; 46(1) ; 219-222
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
Hwang ; JM ; 5934 ; Optic neuropathy associated with mitochondrial tRNA[Leu(UUR)] A3243G mutation. ; Ophthalmic Genet ; 1997 ; 18(2) ; 101-5
Isashiki ; Y ; 5940 ; Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation. ; Acta Ophthalmol Scand ; 1998 ; 76(1) ; 6-13
James ; AM ; 3583 ; Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations. ; Biochem J ; 1996 ; 318( Pt 2) ; 401-407
Kiechle ; FL ; 3627* ; Mitochondrial disorders. Methods and specimen selection for diagnostic molecular pathology. ; Arch Pathol Lab Med ; 1996 ; 120(6) ; 597-603
Klopstock ; T ; 5991 ; Mitochondrial DNA mutations in multiple symmetric lipomatosis. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 271-5
Klopstock ; T ; 3642* ; Mitochondrial DNA in migraine with aura. ; Neurology ; 1996 ; 46(6) ; 1735-1738
Larner ; AJ ; 631* ; Myopathy with ragged red fibres following renal transplantation: possible role of cyclosporin-induced hypomagnesaemia. ; Acta Neuropathologica ; 1994 ; 88(2) ; 189-92
Larsson ; NG ; 1335 ; Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. ; American Journal of Human Genetics ; 1992 ; 51(6) ; 1201-12
Larsson ; NG ; 1085* ; Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas. [Review] ; Muscle & Nerve ; 1995 ; Suppl 3 ; S102-6
Lertrit ; P ; 1332 ; Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy. ; Human Genetics ; 1992 ; 90(3) ; 251-4
Lombes ; A ; 1327 ; Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome. ; Neuromuscular Disorders ; 1992 ; 2(5-6) ; 323-30
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
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
Matthews ; PM ; 856 ; In vivo magnetic resonance spectroscopy of brain and muscle in a type of mitochondrial encephalomyopathy (MERRF). ; Annals of Neurology ; 1991 ; 29(4) ; 435-8
Melanson ; M ; 6070 ; Progressive myoclonus epilepsy in young adults with neuropathologic features of Alzheimer's disease. ; Neurology ; 1997 ; 49(6) ; 1732-3
Melberg ; A ; 6072 ; Monozygotic twins with MELAS-like syndrome lacking ragged red fibers and lactacidaemia. ; Acta Neurol Scand ; 1996 ; 94(4) ; 233-41
Mita ; S ; 6083 ; Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers. ; Muscle Nerve ; 1998 ; 21(4) ; 490-7
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
Munscher ; C ; 1300 ; The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages. ; FEBS Letters ; 1993 ; 317(1-2) ; 27-30
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
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
O'Keeffe ; ST ; 1114* ; Ekbom's syndrome [letter; comment]. ; Muscle & Nerve ; 1995 ; 18(4) ; 478
Ohta ; S ; 3893 ; Genetic diagnosis of mitochondrial diseases ; Nippon Ika Daigaku Zasshi ; 1995 ; 62(5) ; 516-519
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
Penisson-Besnier ; I ; 2303 ; Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins. ; Journal of the Neurological Sciences ; 1992 ; 110(1-2) ; 144-8
Peterson ; PL ; 1087* ; The treatment of mitochondrial myopathies and encephalomyopathies. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 275-80
Reichmann ; H ; 2843* ; Ragged red or ragged blue fibers. ; Eur Neurol ; 1996 ; 36(2) ; 98-102
Rifai ; Z ; 617* ; Ragged red fibers in normal aging and inflammatory myopathy [see comments] ; Ann Neurol ; 1995 ; 37(1) ; 24-9
Rowland ; LP ; 1367 ; Clinical syndromes associated with ragged red fibers. ; Revue Neurologique ; 1991 ; 147(6-7) ; 467-73
Sanger ; TD ; 4022 ; MERRF syndrome with overwhelming lactic acidosis. ; Pediatric Neurology ; 1996 ; 14(1) ; 57-61
Santorelli ; FM ; 6207 ; Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome [letter] ; Muscle Nerve ; 1998 ; 21(5) ; 681-2
Schon ; EA ; 6217 ; Mitochondrial DNA mutations and pathogenesis. ; J Bioenerg Biomembr ; 1997 ; 29(2) ; 131-49
Sciacco ; M ; 4056 ; Cytochemistry and immunocytochemistry of mitochondria in tissue sections. ; Meth Enzymol ; 1996 ; 264 ; 509-521
Seibel ; P ; 2743 ; Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF). ; J Neurol Sci ; 1991 ; 105(2) ; 217-24
Serra ; G ; 4060 ; Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap. ; Brain Dev ; 1996 ; 18(3) ; 185-191
Shoffner ; JM ; 4083* ; Maternal inheritance and the evaluation of oxidative phosphorylation diseases. ; Lancet ; 1996 ; 348(9037) ; 1283-1288
Shoffner ; J.M. ; 59* ; Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation ; Cell ; 1990 ; 61 ; 931-37
Shoffner ; JM ; 1117* ; Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene. ; Neurology ; 1995 ; 45(2) ; 286-92
Shoffner ; JM ; 1099* ; Renal amino acid transport in adults with oxidative phosphorylation diseases. ; Kidney International ; 1995 ; 47(4) ; 1101-7
Silvestri ; G ; 1311 ; A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). ; American Journal of Human Genetics ; 1992 ; 51(6) ; 1213-7
Silvestri ; G ; 354* ; Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). ; Neurology ; 1993 ; 43(6) ; 1200-6
Sparaco ; M ; 4112* ; Myoclonic epilepsy with ragged-red fibers (MERRF): an immunohistochemical study of the brain. ; Brain Pathol ; 1995 ; 5(2) ; 125-133
Suzuki ; Y ; 6288 ; Muscle histopathology in diabetes mellitus associated with mitochondrial tRNA(Leu(UUR)) mutation at position 3243. ; J Neurol Sci ; 1997 ; 145(1) ; 49-53
Suzuki ; Y ; 6290 ; Diabetes associated with a novel 3264 mitochondrial tRNA(Leu)(UUR) mutation. ; Diabetes Care ; 1997 ; 20(7) ; 1138-40
Tanaka ; S ; 6305 ; Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers (MERRF): a single-photon emission computed tomographic (SPECT) and electrophysiological study. ; Brain Dev ; 1997 ; 19(3) ; 205-8
Tanno ; Y ; 411* ; Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients ; Neurology ; 1993 ; 43(6) ; 1198-200
Taylor ; RW ; 6311 ; Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. ; Nat Genet ; 1997 ; 15(2) ; 212-5
Thompson ; PD ; 1755* ; Cortical reflex myoclonus in patients with the mitochondrial DNA transfer RNA(Lys)(8344) (MERRF) mutation. ; Journal of Neurology ; 1994 ; 241(5) ; 335-40
Traff ; J ; 4193* ; Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNA(Lys) A8344G mutation in mitochondrial DNA. ; Acta Neurol Scand ; 1995 ; 92(5) ; 394-397
Ujike ; H ; 940* ; MELAS without ragged red fibers or lactic acidosis diagnosed by mitochondrial DNA testing. ; Japanese Journal of Psychiatry & Neurology ; 1993 ; 47(3) ; 637-41
Verma ; A ; 2658* ; A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation ; Neurology ; 1996 ; 46(5) ; 1334-6
Villani ; G ; 6353 ; In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells. ; Proc Natl Acad Sci U S A ; 1997 ; 94(4) ; 1166-71
Wallace ; D.C. ; 60* ; Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease ; Cell ; 1988 ; 55 ; 601-10
Wijburg ; FA ; 4254 ; Diseases caused by mitochondrial DNA mutations ; Ned Tijdschr Geneeskd ; 1995 ; 139(26) ; 1322-1326
Wong ; A ; 6377 ; mtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A. ; Biochem Biophys Res Commun ; 1997 ; 239(1) ; 139-45
Yoneda ; M ; 1079* ; Heteroplasmic mitochondrial tRNA(Lys) mutation and its complementation in MERRF patient-derived mitochondrial transformants. ; Muscle & Nerve ; 1995 ; Suppl 3 ; S95-101
Yoneda ; M ; 4281 ; Detection and quantification of point mutations in mitochondrial DNA by PCR. ; Meth Enzymol ; 1996 ; 264 ; 432-441
Zeviani ; M ; 937 ; A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene [published erratum appears in Eur J Hum Genet 1993;1(2):124]. ; European Journal of Human Genetics ; 1993 ; 1(1) ; 80-7
Zeviani ; M ; 115* ; Rapid detection of the A -> G (8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF) ; Am J Hum Genet ; 1991 ; 48 ; 203-11
Zhou ; L ; 6399 ; Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates. ; J Neurosci ; 1997 ; 17(20) ; 7746-53