Year |
Citation |
Score |
2023 |
Girard A, Moreau C, Michaud JL, Minassian B, Cossette P, Girard SL. Unraveling the role of non-coding rare variants in epilepsy. Plos One. 18: e0291935. PMID 37756314 DOI: 10.1371/journal.pone.0291935 |
0.302 |
|
2023 |
Nguyen E, Tétreault M, Toffa DH, Cossette P, Samarut É, Nguyen DK. Novel NALCN variant linked to temporal lobe epilepsy. American Journal of Medical Genetics. Part A. PMID 37046053 DOI: 10.1002/ajmg.a.63209 |
0.401 |
|
2020 |
Cadieux-Dion M, Meneghini S, Villa C, Toffa DH, Wickstrom R, Bouthillier A, Sandvik U, Gustavsson B, Mohamed I, Cossette P, Combi R, Becchetti A, Nguyen DK. Variants in and identified in patients with insular epilepsy. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 1-25. PMID 32536355 DOI: 10.1017/Cjn.2020.126 |
0.44 |
|
2020 |
Mohamed IS, Toffa DH, Robert M, Cossette P, Bérubé AA, Saint-Hilaire JM, Bouthillier A, Nguyen DK. Utility of magnetic source imaging in nonlesional focal epilepsy: a prospective study. Neurosurgical Focus. 48: E16. PMID 32234989 DOI: 10.3171/2020.1.Focus19877 |
0.35 |
|
2020 |
Wolking S, Moreau C, Nies AT, Schaeffeler E, McCormack M, Auce P, Avbersek A, Becker F, Krenn M, Møller RS, Nikanorova M, Weber YG, Weckhuysen S, Cavalleri GL, Delanty N, ... ... Cossette P, et al. Testing association of rare genetic variants with resistance to three common antiseizure medications. Epilepsia. PMID 32141622 DOI: 10.1111/Epi.16467 |
0.315 |
|
2020 |
Jedličková I, Cadieux-Dion M, Přistoupilová A, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Hůlková H, Sikora J, Nosková L, Mušálková D, Vyleťal P, Sovová J, Cossette P, Andermann E, et al. Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing. European Journal of Human Genetics : Ejhg. PMID 31919451 DOI: 10.1038/S41431-019-0567-2 |
0.405 |
|
2019 |
Liao M, Kundap U, Rosch RE, Burrows DRW, Meyer MP, Bencheikh BOA, Cossette P, Samarut É. Targeted knockout of GABA receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae. Disease Models & Mechanisms. PMID 31582559 DOI: 10.1242/Dmm.040782 |
0.489 |
|
2019 |
Paradis C, Cadieux-Dion M, Meloche C, Gravel M, Paradis J, Des Roches A, Leclerc G, Cossette P, Begin P. TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia. Journal of Clinical Immunology. PMID 30685859 DOI: 10.1007/S10875-018-0584-X |
0.31 |
|
2018 |
Samarut É, Swaminathan A, Riché R, Liao M, Hassan-Abdi R, Renault S, Allard M, Dufour L, Cossette P, Soussi-Yanicostas N, Drapeau P. γ-Aminobutyric acid receptor alpha 1 subunit loss of function causes genetic generalized epilepsy by impairing inhibitory network neurodevelopment. Epilepsia. PMID 30324621 DOI: 10.1111/Epi.14576 |
0.459 |
|
2018 |
Monlong J, Cossette P, Meloche C, Rouleau G, Girard SL, Bourque G. Human copy number variants are enriched in regions of low mappability. Nucleic Acids Research. 46: 7236-7249. PMID 30137632 DOI: 10.1093/Nar/Gky538 |
0.316 |
|
2018 |
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, ... ... Cossette P, et al. Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study. The Lancet. Neurology. 17: 699-708. PMID 30033060 DOI: 10.1016/S1474-4422(18)30215-1 |
0.421 |
|
2018 |
Cabana JF, Gilbert G, Létourneau-Guillon L, Safi D, Rouleau I, Cossette P, Nguyen DK. Effects of SYN1 mutation on cortical gray matter microstructure. Human Brain Mapping. PMID 29671924 DOI: 10.1002/Hbm.24186 |
0.388 |
|
2018 |
Lyahyai J, Bencheikh BOA, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A. Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report. Bmc Pediatrics. 18: 138. PMID 29665810 DOI: 10.1186/S12887-018-1114-Y |
0.403 |
|
2018 |
Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, Gravel M, Spiegelman D, Dionne-Laporte A, Boelman C, Hamdan FF, Michaud JL, Rouleau G, Minassian BA, Bourque G, ... Cossette P, et al. Global characterization of copy number variants in epilepsy patients from whole genome sequencing. Plos Genetics. 14: e1007285. PMID 29649218 DOI: 10.1371/Journal.Pgen.1007285 |
0.329 |
|
2018 |
Lyahyai J, Oulad Amar Bencheikh B, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A. Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report. Bmc Pediatrics. 18: 90. PMID 29486744 DOI: 10.1186/S12887-018-1063-5 |
0.514 |
|
2017 |
Mohamed IS, Bouthillier A, Bérubé A, Cossette P, Finet P, Saint-Hilaire JM, Robert M, Nguyen DK. The clinical impact of integration of magnetoencephalography in the presurgical workup for refractory nonlesional epilepsy. Epilepsy & Behavior : E&B. 79: 34-41. PMID 29253675 DOI: 10.1016/J.Yebeh.2017.10.036 |
0.375 |
|
2017 |
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. American Journal of Human Genetics. 101: 664-685. PMID 29100083 DOI: 10.1016/J.Ajhg.2017.09.008 |
0.514 |
|
2017 |
Abou-Khalil B, Afawi Z, Allen A, Bautista J, Bellows S, Berkovic S, Bluvstein J, Burgess R, Cascino G, Cops E, Cossette P, Cristofaro S, Crompton D, Delanty N, Devinsky O, et al. Phenotypic analysis of 303 multiplex families with common epilepsies Brain. 140: 2144-2156. PMID 28899008 DOI: 10.1093/Brain/Awx129 |
0.483 |
|
2017 |
Appenzeller S, Balling R, Barisic N, Baulac S, Caglayan H, Craiu D, Jonghe PD, Depienne C, Dimova P, Djémié T, Gormley P, Guerrini R, Helbig I, Hjalgrim H, Hoffman-Zacharska D, ... ... Cossette P, et al. Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013)) American Journal of Human Genetics. 100: 179. PMID 28061363 DOI: 10.1016/J.Ajhg.2016.12.012 |
0.413 |
|
2016 |
Al-Mehmadi S, Splitt M, Ramesh V, DeBrosse S, Dessoffy K, Xia F, Yang Y, Rosenfeld JA, Cossette P, Michaud JL, Hamdan FF, Campeau PM, Minassian BA. FHF1 (FGF12) epileptic encephalopathy. Neurology. Genetics. 2: e115. PMID 27830185 DOI: 10.1212/Nxg.0000000000000115 |
0.535 |
|
2016 |
Myers CT, McMahon JM, Schneider AL, Petrovski S, Allen AS, Carvill GL, Zemel M, Saykally JE, LaCroix AJ, Heinzen EL, Hollingsworth G, Nikanorova M, Corbett M, Gecz J, Coman D, ... ... Cossette P, et al. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies American Journal of Human Genetics. 99: 287-298. PMID 27476654 DOI: 10.1016/J.Ajhg.2016.06.003 |
0.489 |
|
2016 |
Nascimento F, Borlot F, Cossette P, Minassian B, Andrade D. B.06: CNS André Barbeau Memorial Prize: Two definite sudden unexpected deaths in epilepsy in a family with a DEPDC5 mutation Canadian Journal of Neurological Sciences. 43. DOI: 10.1017/Cjn.2016.65 |
0.435 |
|
2015 |
Nascimento FA, Borlot F, Cossette P, Minassian BA, Andrade DM. Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation. Neurology. Genetics. 1: e28. PMID 27066565 DOI: 10.1212/Nxg.0000000000000028 |
0.508 |
|
2015 |
Nguyen DK, Rouleau I, Sénéchal G, Ansaldo AI, Gravel M, Benfenati F, Cossette P. X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome. Epilepsia. 56: 1098-108. PMID 26096837 DOI: 10.1111/Epi.13042 |
0.488 |
|
2015 |
Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D, Cossette P, Nguyen S, Lambrecq V, Vlaicu M, Daniau M, Bielle F, Andermann E, Andermann F, et al. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Annals of Neurology. 77: 675-83. PMID 25623524 DOI: 10.1002/Ana.24368 |
0.542 |
|
2015 |
Nguyen DK, Rouleau I, Sénéchal G, Ansaldo AI, Gravel M, Benfenati F, Cossette P. X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome Epilepsia. 56: 1098-1108. DOI: 10.1111/epi.13042 |
0.389 |
|
2014 |
Lachance-Touchette P, Choudhury M, Stoica A, Di Cristo G, Cossette P. Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner. Frontiers in Cellular Neuroscience. 8: 317. PMID 25352779 DOI: 10.3389/Fncel.2014.00317 |
0.501 |
|
2014 |
Anney RJL, Avbersek A, Balding D, Baum L, Becker F, Berkovic SF, Bradfi JP, Brody LC, Buono RJ, Catarino CB, Cavalleri GL, Cherny SS, Chinthapalli K, Coffey AJ, Compston A, ... Cossette P, et al. Genetic determinants of common epilepsies: A meta-analysis of genome-wide association studies The Lancet Neurology. 13: 893-903. PMID 25087078 DOI: 10.1016/S1474-4422(14)70171-1 |
0.441 |
|
2014 |
Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, ... ... Cossette P, et al. Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. Embo Reports. 15: 766-74. PMID 24928908 DOI: 10.15252/Embr.201438840 |
0.405 |
|
2014 |
Michaud JL, Lachance M, Hamdan FF, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E. The genetic landscape of infantile spasms. Human Molecular Genetics. 23: 4846-58. PMID 24781210 DOI: 10.1093/Hmg/Ddu199 |
0.464 |
|
2014 |
Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. Jama Neurology. 71: 470-5. PMID 24566826 DOI: 10.1001/Jamaneurol.2013.6337 |
0.496 |
|
2014 |
Martin C, Meloche C, Rioux MF, Nguyen DK, Carmant L, Andermann E, Gravel M, Cossette P. A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population. Clinical Genetics. 86: 570-4. PMID 24283814 DOI: 10.1111/Cge.12311 |
0.563 |
|
2014 |
Corradi A, Fadda M, Piton A, Patry L, Marte A, Rossi P, Cadieux-Dion M, Gauthier J, Lapointe L, Mottron L, Valtorta F, Rouleau GA, Fassio A, Benfenati F, Cossette P. SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth. Human Molecular Genetics. 23: 90-103. PMID 23956174 DOI: 10.1093/Hmg/Ddt401 |
0.424 |
|
2013 |
Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, et al. De novo mutations in epileptic encephalopathies. Nature. 501: 217-21. PMID 23934111 DOI: 10.1038/Nature12439 |
0.49 |
|
2013 |
Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, ... ... Cossette P, et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nature Genetics. 45: 546-51. PMID 23542697 DOI: 10.1038/Ng.2599 |
0.543 |
|
2013 |
Lignani G, Raimondi A, Ferrea E, Rocchi A, Paonessa F, Cesca F, Orlando M, Tkatch T, Valtorta F, Cossette P, Baldelli P, Benfenati F. Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity. Human Molecular Genetics. 22: 2186-99. PMID 23406870 DOI: 10.1093/Hmg/Ddt071 |
0.32 |
|
2013 |
Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Human Molecular Genetics. 22: 1417-23. PMID 23297359 DOI: 10.1093/Hmg/Dds558 |
0.483 |
|
2013 |
Cadieux-Dion M, Andermann E, Lachance-Touchette P, Ansorge O, Meloche C, Barnabé A, Kuzniecky RI, Andermann F, Faught E, Leonberg S, Damiano JA, Berkovic SF, Rouleau GA, Cossette P. Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. Clinical Genetics. 83: 571-5. PMID 22978711 DOI: 10.1111/Cge.12020 |
0.523 |
|
2013 |
Pandolfo M, Dibbens L, Vries Bd, Donatello S, Heron S, Hodgson B, Chintawar S, Crompton D, Hughes J, Bellows S, Klein KM, Callenbach P, Corbett M, Gardner A, Kivity S, ... ... Cossette P, et al. Mutations in DEPDC5 cause Familial Focal Epilepsy with Variable Foci and are a common cause of familial non-lesional focal epilepsy Neurology. 80: 203-204. DOI: 10.1212/Wnl.0B013E3182924C84 |
0.367 |
|
2012 |
Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Rivière JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, ... ... Cossette P, et al. Exome sequencing identifies FUS mutations as a cause of essential tremor. American Journal of Human Genetics. 91: 313-9. PMID 22863194 DOI: 10.1016/J.Ajhg.2012.07.002 |
0.435 |
|
2011 |
Patino GA, Brackenbury WJ, Bao Y, Lopez-Santiago LF, O'Malley HA, Chen C, Calhoun JD, Lafrenière RG, Cossette P, Rouleau GA, Isom LL. Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 14577-91. PMID 21994374 DOI: 10.1523/Jneurosci.0361-11.2011 |
0.376 |
|
2011 |
Lachance-Touchette P, Brown P, Meloche C, Kinirons P, Lapointe L, Lacasse H, Lortie A, Carmant L, Bedford F, Bowie D, Cossette P. Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. The European Journal of Neuroscience. 34: 237-49. PMID 21714819 DOI: 10.1111/J.1460-9568.2011.07767.X |
0.657 |
|
2011 |
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, et al. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. American Journal of Human Genetics. 88: 566-73. PMID 21549341 DOI: 10.1016/J.Ajhg.2011.04.004 |
0.47 |
|
2011 |
Fassio A, Patry L, Congia S, Onofri F, Piton A, Gauthier J, Pozzi D, Messa M, Defranchi E, Fadda M, Corradi A, Baldelli P, Lapointe L, St-Onge J, Meloche C, ... ... Cossette P, et al. SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. Human Molecular Genetics. 20: 2297-307. PMID 21441247 DOI: 10.1093/Hmg/Ddr122 |
0.503 |
|
2010 |
Lachance-Touchette P, Martin C, Poulin C, Gravel M, Carmant L, Cossette P. Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy. Epilepsia. 51: 1894-7. PMID 20550555 DOI: 10.1111/J.1528-1167.2010.02642.X |
0.506 |
|
2010 |
Cossette P. Channelopathies and juvenile myoclonic epilepsy. Epilepsia. 51: 30-2. PMID 20331709 DOI: 10.1111/J.1528-1167.2009.02439.X |
0.404 |
|
2010 |
Cossette P, Rouleau GA. Mutated GABAA receptor subunits in idiopathic generalized epilepsy Epilepsia. 51: 62. DOI: 10.1111/J.1528-1167.2010.02848.X |
0.463 |
|
2009 |
Ollivier ML, Dubois MF, Krajinovic M, Cossette P, Carmant L. Risk factors for valproic acid resistance in childhood absence epilepsy. Seizure. 18: 690-4. PMID 19836978 DOI: 10.1016/J.Seizure.2009.09.007 |
0.4 |
|
2009 |
Malak R, Bouthillier A, Carmant L, Cossette P, Giard N, Saint-Hilaire JM, Nguyen DB, Nguyen DK. Microsurgery of epileptic foci in the insular region. Journal of Neurosurgery. 110: 1153-63. PMID 19249926 DOI: 10.3171/2009.1.Jns08807 |
0.348 |
|
2009 |
Nguyen DK, Nguyen DB, Malak R, Leroux JM, Carmant L, Saint-Hilaire JM, Giard N, Cossette P, Bouthillier A. Revisiting the role of the insula in refractory partial epilepsy. Epilepsia. 50: 510-20. PMID 18717706 DOI: 10.1111/J.1528-1167.2008.01758.X |
0.388 |
|
2009 |
Gauthier J, Spiegelman D, Piton A, Lafrenière RG, Laurent S, St-Onge J, Lapointe L, Hamdan FF, Cossette P, Mottron L, Fombonne E, Joober R, Marineau C, Drapeau P, Rouleau GA. Novel de novo SHANK3 mutation in autistic patients. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 150: 421-4. PMID 18615476 DOI: 10.1002/Ajmg.B.30822 |
0.449 |
|
2008 |
Montpetit A, Côté S, Brustein E, Drouin CA, Lapointe L, Boudreau M, Meloche C, Drouin R, Hudson TJ, Drapeau P, Cossette P. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. Plos Genetics. 4: e1000296. PMID 19057675 DOI: 10.1371/Journal.Pgen.1000296 |
0.39 |
|
2008 |
Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L, Champagne N, Lafrenière RG, Hamdan FF, Joober R, Fombonne E, Marineau C, Cossette P, Dubé MP, et al. Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Human Molecular Genetics. 17: 3965-74. PMID 18801879 DOI: 10.1093/Hmg/Ddn300 |
0.433 |
|
2008 |
Kinirons P, Rabinowitz D, Gravel M, Long J, Winawer M, Sénéchal G, Ottman R, Cossette P. Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy. Epilepsy Research. 82: 21-28. PMID 18723325 DOI: 10.1016/J.Eplepsyres.2008.06.011 |
0.427 |
|
2008 |
Kinirons P, Verlaan DJ, Dubé MP, Poirier J, Deacon C, Lortie A, Clément JF, Desbiens R, Carmant L, Cieuta-Walti C, Shevell M, Rouleau GA, Cossette P. A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11. American Journal of Medical Genetics. Part A. 146: 578-84. PMID 18241056 DOI: 10.1002/Ajmg.A.32139 |
0.325 |
|
2007 |
Meijer IA, Dupré N, Brais B, Cossette P, St-Onge J, Rioux MF, Benard M, Rouleau GA. SPG4 founder effect in French Canadians with hereditary spastic paraplegia. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 34: 211-4. PMID 17598600 DOI: 10.1017/S0317167100006065 |
0.465 |
|
2006 |
Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber YG, Schlesinger F, Ursu D, Melzer W, Cossette P, Bufler J, Lerche H, Heils A. A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Annals of Neurology. 59: 983-7. PMID 16718694 DOI: 10.1002/Ana.20874 |
0.516 |
|
2005 |
Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Sacred disease secrets revealed: the genetics of human epilepsy. Human Molecular Genetics. 14: 2491-2500. PMID 16278970 |
0.455 |
|
2005 |
Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Sacred disease secrets revealed: the genetics of human epilepsy. Human Molecular Genetics. 14: 2491-500. PMID 16049035 DOI: 10.1093/Hmg/Ddi250 |
0.455 |
|
2005 |
Krampfl K, Maljevic S, Cossette P, Ziegler E, Rouleau GA, Lerche H, Bufler J. Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy. The European Journal of Neuroscience. 22: 10-20. PMID 16029191 DOI: 10.1111/J.1460-9568.2005.04168.X |
0.449 |
|
2005 |
Cossette P, Lortie A, Vanasse M, Saint-Hilaire JM, Rouleau GA. Autosomal dominant juvenile myoclonic epilepsy and GABRA1. Advances in Neurology. 95: 255-63. PMID 15508928 |
0.36 |
|
2004 |
Major P, Décarie JC, Nadeau A, Diadori P, Lortie A, Nguyen D, Cossette P, Carmant L. Clinical significance of isolated hippocampal volume asymmetry in childhood epilepsy. Neurology. 63: 1503-6. PMID 15505176 DOI: 10.1212/01.Wnl.0000142079.79612.Cb |
0.448 |
|
2003 |
Stumpf E, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A, Lesage J, Montplaisir J, Brais B, Cossette P. Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. Archives of Neurology. 60: 1307-12. PMID 12975300 DOI: 10.1001/Archneur.60.9.1307 |
0.445 |
|
2003 |
Cossette P, Loukas A, Lafrenière RG, Rochefort D, Harvey-Girard E, Ragsdale DS, Dunn RJ, Rouleau GA. Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). Epilepsy Research. 53: 107-17. PMID 12576172 DOI: 10.1016/S0920-1211(02)00259-0 |
0.363 |
|
2002 |
Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nature Genetics. 31: 184-9. PMID 11992121 DOI: 10.1038/Ng885 |
0.421 |
|
2002 |
Meijer IA, Hand CK, Cossette P, Figlewicz DA, Rouleau GA. Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Archives of Neurology. 59: 281-6. PMID 11843700 DOI: 10.1001/Archneur.59.2.281 |
0.452 |
|
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