|1|Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. (24297365)
Haugarvoll K.... Bindoff L.A.
|2|Progressive myoclonus epilepsy. (23622396)
Girard J.M.... Minassian B.A.
Guerrini R.... Takahashi T.
|4|The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. (23955123)
MartA--MassA^ J.F.... PaisA!n-Ruiz C.
|5|Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. (23803304)
Striano P.... Minetti C.
|6|Increased clinical anticipation with maternal transmission in benign adult familial myoclonus epilepsy in Japan. (24184691)
Hitomi T.... Ikeda A.
|7|Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene. (21435071)
Hagen M.C.... Ghetti B.
|8|Gaucher disease patient with myoclonus epilepsy and a novel mutation. (20004867)
Tajima A.... Ida H.
|9|Sleep-related tongue biting may not be a sign of epilepsy: a case of sleep-related faciomandibular myoclonus. (19125838)
Dylgjeri S.... Villani F.
|10|Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome. (19597094)
Costello D.J.... Siao P.
|11|Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1. (19420257)
Lehtinen M.K.... Lehesjoki A.E.
|12|Treatment options for epileptic myoclonus and epilepsy syndromes associated with myoclonus. (19527185)
Andrade D.M.... Minassian B.A.
|13|Unverricht-Lundborg progressive myoclonus epilepsy in Oman. (18358403)
Santoshkumar B.... Minassian B.A.
|14|Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. (17952067)
Vilchez D.... Guinovart J.J.
|15|Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy. (17879451)
Trujillo-Tiebas M.J.... Ayuso GarcA-a C.
|16|Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). (15329082)
Filocamo M.... Guerrini R.
|17|The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion. (14526183)
Lalioti M.D.... Scott H.S.
|18|Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia. (14526165)
Greene E.... Usdin K.
|19|Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR. (11160915)
Szuhai K.... Raap A.
|20|Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt. (10477264)
AntonickA! H.... Houstek J.
|21|Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy. (10514826)
Delgado-Escueta A.V.... Sparkes R.S.
|22|Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers. (9533783)
Mita S.... Uchino M.
|23|A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. (9529356)
Lalioti M.D.... Antonarakis S.E.
|24|Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. (9778262)
Jaksch M.... Gerbitz K.D.
|25|Two cases of essential myoclonus, epilepsy, mental retardation and anxiety disorders. (9339874)
Nezu A.... Tanaka M.
|26|Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). (9012407)
Lalioti M.D.... Antonarakis S.E.
|27|Treatment of four siblings with progressive myoclonus epilepsy of the Unverricht-Lundborg type with N-acetylcysteine. (8909441)
Hurd R.W.... Uthman B.M.
|28|Progressive myoclonus epilepsy with focal brainstem degeneration and paternal inheritance. An autopsy report of 4 cases from 2 pedigrees. (8925594)
Moss T.H.... Campbell M.J.
|29|The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. (8541857)
Serratosa J.M.... Sparkes R.S.
|30|Myoclonus epilepsy and ragged-red fibers: blood mitochondrial DNA heteroplasmy in affected and asymptomatic members of a family. (8116340)
Piccolo G.... Mazzarello P.
|31|Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. (1463006)
Larsson N.G.... Aasly J.
|32|Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood. (1957976)
Tomoda A.... Kumamoto T.
|33|Simple detection of tRNA(Lys) mutation in myoclonus epilepsy associated with ragged-red fibers (MERRF) by polymerase chain reaction with a mismatched primer. (1682854)
Yoneda M.... Tsuji S.
|34|Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). (1899320)
Zeviani M.... Didonato S.
|35|Antimyoclonic effects of alcohol in progressive myoclonus epilepsy. (2118240)
Genton P.... Guerrini R.
|36|Autonomic nervous system function in Baltic myoclonus epilepsy. (2116965)
KAolviAoinen R.... Riekkinen P.J.
|37|Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia. (3356526)
Federico A.... Guazzi G.C.
|38|Myoclonus epilepsy in two brothers. Clinical features and neuropathology of a unique syndrome. (3087570)
Logigian E.L.... Richardson E.P.
|39|"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. (6137660)
Eldridge R.... Wilder B.J.
|40|Progressive myoclonus epilepsy is not accompanied by humoral immune response within the central nervous system. (6801912)
Link H.... Kekoni J.
|41|Electrophysiological signs of peripheral nerve dysfunction in progressive myoclonus epilepsy. (6798815)
Danner R.... Riekkinen P.J.
|42|Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. (6774061)
Fukuhara N.... Tsubaki T.
|43|Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. (109240)
Norio R.... Koskiniemi M.
|44|Urinary excretion of indican in progressive myoclonus epilepsy without Lafora bodies. The effect of sodium valproate. (105091)
Koskiniemi M.... Palo J.
|45|Focal reflex epilepsy with myoclonus; electrophysiological investigation and therapeutic implications. (64353)
RosAcn I.... Elmqvist D.
|46|Progressive familial myoclonus epilepsy. (1185222)
Rustam H.... Witri S.
|47|Neuropathological studies in three Scandinavian cases of progressive myoclonus epilepsy. (4979532)
Haltia M.... Sourander P.
|48|Myoclonus epilepsy with Lafora bodies. An ultrastruc- tural and cytochemical study. (4877594)
Collins G.H.... Nevis A.H.
|49|Effect of thalamotomy on the EEG in progressive myoclonus epilepsy. (4966756)
BergstrAPm L.... Laitinen L.