| 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 | Lafora progressive myoclonus epilepsy: NHLRC1 mutatio ns affect glycogen metabolism. (21505799) | Couarch P.... Baulac S. | 2011 | EPM2A, NHLRC1 |
| 3 | PRICKLE1 progressive myoclonus epilepsy in Southern I taly. (20842693) | Criscuolo C.... Filla A. | 2010 | PRICKLE1 |
| 4 | 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 |
| 5 | SCARB2 mutations in progressive myoclonus epilepsy (P ME) without renal failure. (19847901) | Dibbens L.M.... Berkovic S.F. | 2009 | CSTB, SCARB2 |
| 6 | Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate. (18263761) | Turnbull J.... Minassian B.A. | 2008 | NHLRC1 |
| 7 | A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (18976727) | Bassuk A.G.... El-Shanti H.I. | 2008 | PRICKLE1 |
| 8 | Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy. (18617530) | Dubey D.... Ganesh S. | 2008 | EPM2A, NHLRC1 |
| 9 | Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy. (17879451) | Trujillo-Tiebas M.J.... Ayuso Garcia C. | 2007 | EPM2A |
| 10 | Lafora's disease presenting with progressive myoclonus epilepsy (18033035) | Bejot Y.... Giroud M. | 2007 | EPM2A, NHLRC1 |
| 11 | Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora. (17452581) | Gomez-Garre P.... Serratosa J.M. | 2007 | GBE1, NHLRC1 |
| 12 | Advances in lafora progressive myoclonus epilepsy. (17764634) | Delgado-Escueta A.V. | 2007 | PARK2, EPM2A, NHLRC1 |
| 13 | Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy. (16311711) | Ganesh S.... Dubey D. | 2006 | PARK2, EPM2A, DUSP19 |
| 14 | Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B. (15508913) | Chan E.M.... Minassian B. | 2005 | NHLRC1 |
| 15 | Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes. (16134145) | Ianzano L.... Minassian B.A. | 2005 | ACP1, EPM2A, NHLRC1 |
| 16 | Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy. (16115820) | Lohi H.... Minassian B.A. | 2005 | GSK3B, APC, GYS1 |
| 17 | Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). (15329082) | Filocamo M.... Guerrini R. | 2004 | GBA |
| 18 | A novel exon 1 mutation in a patient with atypical Lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit. (15009235) | Annesi G.... Quattrone A. | 2004 | EPM2A |
| 19 | Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. (15102711) | Chan E.M.... Minassian B.A. | 2004 | EPM2A, EPM2AIP1 |
| 20 | Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. (15304597) | Chan E.M.... Minassian B.A. | 2004 | NHLRC1 |
| 21 | 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 |
| 22 | 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 |
| 23 | Mutations in NHLRC1 cause progressive myoclonus epilepsy. (12958597) | Chan E.M.... Scherer S.W. | 2003 | EPM2A, NHLRC1, EPM2AIP1 |
| 24 | Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. (12960212) | Chan E.M.... Minassian B.A. | 2003 | NHLRC1 |
| 25 | 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 |
| 26 | 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 |
| 27 | Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy. (12452481) | Rinne R.... Lehesjoki A.E. | 2002 | CSTB |
| 28 | New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B. (12393805) | Di Giaimo R.... Melli M. | 2002 | CSTB |
| 29 | Advances in the genetics of progressive myoclonus epilepsy. (11579433) | Delgado-Escueta A.V.... Yamakawa K. | 2001 | CSTB, TPP1, CLN3 |
| 30 | Progressive myoclonus epilepsy [EPM1] repeat d(CCCCGCCCCGCG)n forms folded hairpin structures at physiological pH. (11697734) | Pataskar S.S.... Brahmachari S.K. | 2001 | CSTB |
| 31 | 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 |
| 32 | Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. (11175283) | Gomez-Garre P.... Serratosa J.M. | 2000 | EPM2A |
| 33 | Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. (10721698) | Alakurtti K.... Lehesjoki A.E. | 2000 | CSTB |
| 34 | Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy. (11138927) | Takao M.... Ghetti B. | 2000 | SERPINI1 |
| 35 | Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes. (11001928) | Ganesh S.... Yamakawa K. | 2000 | EPM2A, CDKN3, DUSP13 |
| 36 | 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 |
| 37 | The molecular genetic bases of the progressive myoclonus epilepsies. (10514828) | Serratosa J.M.... Myers R.M. | 1999 | CSTB, CLN3 |
| 38 | Progressive myoclonus epilepsy of Unverricht-Lundborg type. (10446747) | Lehesjoki A.E.... Koskiniemi M. | 1999 | CSTB |
| 39 | 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 |
| 40 | 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 |
| 41 | Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. (9771710) | Minassian B.A.... Scherer S.W. | 1998 | ACP1, EPM2A |
| 42 | Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. (9342192) | Bespalova I.N.... Burmeister M. | 1997 | CSTB |
| 43 | Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. (9126745) | Lalioti M.D.... Antonarakis S.E. | 1997 | CSTB |
| 44 | 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 |
| 45 | 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 |
| 46 | Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities. (9345091) | Sainz J.... Delgado-Escueta A.V. | 1997 | EPM2A |
| 47 | Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). (8596935) | Pennacchio L.A.... Myers R.M. | 1996 | CSTB |
| 48 | The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3. (8660980) | Lalioti M.D.... Antonarakis S.E. | 1996 | U2AF1, U2AF2 |
| 49 | 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 |
| 50 | Progressive Myoclonus Epilepsy, Lafora Type (20301563) | Jansen A.C.... Andermann E. | 1993 | EPM2A, NHLRC1 |
