| 1 | Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy. (22036712) | Dubey D.... Ganesh S. | 2012 | EPM2A |
| 2 | Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations. (22050460) | Rubboli G.... Michelucci R. | 2011 | SCARB2 |
| 3 | Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. (21670406) | Dibbens L.M.... Berkovic S.F. | 2011 | SCARB2 |
| 4 | A mutation in the Golgi Qb-SNARE gene GOSR2 causes pr ogressive myoclonus epilepsy with early ataxia. (21549339) | Corbett M.A.... Berkovic S.F. | 2011 | GOSR2 |
| 5 | Lafora progressive myoclonus epilepsy: NHLRC1 mutatio ns affect glycogen metabolism. (21505799) | Couarch P.... Baulac S. | 2011 | EPM2A, NHLRC1 |
| 6 | PRICKLE1 progressive myoclonus epilepsy in Southern I taly. (20842693) | Criscuolo C.... Filla A. | 2010 | PRICKLE1 |
| 7 | Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. (19267391) | Singh S.... Ganesh S. | 2009 | EPM2A, NHLRC1 |
| 8 | SCARB2 mutations in progressive myoclonus epilepsy (P ME) without renal failure. (19847901) | Dibbens L.M.... Berkovic S.F. | 2009 | CSTB, SCARB2 |
| 9 | Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy. (18266750) | Jansen A.C.... Andermann F. | 2008 | EIF2B5 |
| 10 | Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate. (18263761) | Turnbull J.... Minassian B.A. | 2008 | NHLRC1 |
| 11 | Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy. (17879451) | Trujillo-Tiebas M.J.... Ayuso Garcia C. | 2007 | EPM2A |
| 12 | Lafora's disease presenting with progressive myoclonus epilepsy (18033035) | Bejot Y.... Giroud M. | 2007 | EPM2A, NHLRC1 |
| 13 | Advances in lafora progressive myoclonus epilepsy. (17764634) | Delgado-Escueta A.V. | 2007 | PARK2, EPM2A, NHLRC1 |
| 14 | Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy. (16311711) | Ganesh S.... Dubey D. | 2006 | PARK2, EPM2A, DUSP19 |
| 15 | Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. (15483648) | Alakurtti K.... Lehesjoki A.E. | 2005 | CSTB |
| 16 | Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B. (15508913) | Chan E.M.... Minassian B. | 2005 | NHLRC1 |
| 17 | Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. (15304597) | Chan E.M.... Minassian B.A. | 2004 | NHLRC1 |
| 18 | Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. (14722920) | Ianzano L.... Minassian B.A. | 2004 | EPM2A |
| 19 | 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. | 2003 | CSTB |
| 20 | DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg. (14517952) | Weinhaeusel A.... Haas O.A. | 2003 | CSTB |
| 21 | Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. (12960212) | Chan E.M.... Minassian B.A. | 2003 | NHLRC1 |
| 22 | Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy. (12560877) | Ki C.S.... Kim J.W. | 2003 | EPM2A |
| 23 | Identification of a novel protein interacting with laforin, the EPM2A progressive myoclonus epilepsy gene product. (12782127) | Ianzano L.... Scherer S.W. | 2003 | EPM2A, EMP2, EPM2AIP1 |
| 24 | Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. (12019207) | Ganesh S.... Yamakawa K. | 2002 | EPM2A, CDKN3 |
| 25 | Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy. (12452481) | Rinne R.... Lehesjoki A.E. | 2002 | CSTB |
| 26 | New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B. (12393805) | Di Giaimo R.... Melli M. | 2002 | CSTB |
| 27 | Progressive myoclonus epilepsy [EPM1] repeat d(CCCCGCCCCGCG)n forms folded hairpin structures at physiological pH. (11697734) | Pataskar S.S.... Brahmachari S.K. | 2001 | CSTB |
| 28 | Intramolecular i-motif structure at acidic pH for progressive myoclonus epilepsy (EPM1) repeat d(CCCCGCCCCGCG)n. (11697735) | Pataskar S.S.... Brahmachari S.K. | 2001 | CSTB |
| 29 | Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2. (11701600) | Guerrini R.... Casari G. | 2001 | FCMTE2 |
| 30 | Immunohistochemical demonstration of spinal ventral horn cells involvement in a case of 'myoclonus epilepsy with ragged red fibers' (MERRF). (10919352) | Sparaco M.... Rizzuto N. | 2000 | MT-CO2 |
| 31 | Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy. (11138927) | Takao M.... Ghetti B. | 2000 | SERPINI1 |
| 32 | Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons. (10792446) | D'Amato E.... Lindvall O. | 2000 | CSTB |
| 33 | The molecular genetic bases of the progressive myoclonus epilepsies. (10514828) | Serratosa J.M.... Myers R.M. | 1999 | CSTB, CLN3 |
| 34 | 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. | 1999 | COX5A |
| 35 | Progressive myoclonus epilepsy of Unverricht-Lundborg type. (10446747) | Lehesjoki A.E.... Koskiniemi M. | 1999 | CSTB |
| 36 | A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). (9931343) | Serratosa J.M.... de Cordoba S.R. | 1999 | ACP1, EPM2A |
| 37 | 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. | 1998 | CSTB |
| 38 | Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. (9771710) | Minassian B.A.... Scherer S.W. | 1998 | ACP1, EPM2A |
| 39 | Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. (9126745) | Lalioti M.D.... Antonarakis S.E. | 1997 | CSTB |
| 40 | 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. | 1997 | CSTB |
| 41 | Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. (9054946) | Lafreniere R.G.... Rouleau G.A. | 1997 | CSTB |
| 42 | Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities. (9345091) | Sainz J.... Delgado-Escueta A.V. | 1997 | EPM2A |
| 43 | Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. (9090386) | Virtaneva K.... Lehesjoki A.E. | 1997 | CSTB |
| 44 | Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). (8596935) | Pennacchio L.A.... Myers R.M. | 1996 | CSTB |
| 45 | Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. (7633421) | Yamakawa K.... Korenberg J.R. | 1995 | TRAPPC10 |
| 46 | Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. (8104628) | Lehesjoki A.E.... de la Chapelle A. | 1993 | CSTB |
| 47 | Progressive Myoclonus Epilepsy, Lafora Type (20301563) | Jansen A.C.... Andermann E. | 1993 | EPM2A, NHLRC1 |
| 48 | Cytochrome c oxidase activity is deficient in blood vessels of patients with myoclonus epilepsy with ragged-red fibers. (8384773) | Hasegawa H.... Nonaka I. | 1993 | SDHB |
| 49 | Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome. (1905454) | Byrne E.... Ozawa T. | 1991 | MT-ND5 |
| 50 | A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers. (2124116) | Yoneda M.... Tsuji S. | 1990 | MT-TK |
