Andermann E - Search Results

1

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium; Rouleau GA, Majewski J, Michaud JL. Srour M, et al. Among authors: andermann e. J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25. J Med Genet. 2012. PMID: 23012439

2

Evidence for the existence of a fourth dominantly inherited spinocerebellar ataxia locus.

Lopes-Cendes I, Andermann E, Rouleau GA. Lopes-Cendes I, et al. Among authors: andermann e. Genomics. 1994 May 1;21(1):270-4. doi: 10.1006/geno.1994.1257. Genomics. 1994. PMID: 8088802

3

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

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. Cadieux-Dion M, et al. Among authors: andermann e, andermann f. Clin Genet. 2013 Jun;83(6):571-5. doi: 10.1111/cge.12020. Epub 2012 Nov 7. Clin Genet. 2013. PMID: 22978711

4

Duplication 2p16 is associated with perisylvian polymicrogyria.

Amrom D, Poduri A, Goldman JS, Dan B, Deconinck N, Pichon B, Nadaf J, Andermann F, Andermann E, Walsh CA, Dobyns WB. Amrom D, et al. Among authors: andermann e. Am J Med Genet A. 2019 Dec;179(12):2343-2356. doi: 10.1002/ajmg.a.61342. Epub 2019 Oct 29. Am J Med Genet A. 2019. PMID: 31660690

5

A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.

Lopes-Cendes I, Scheffer IE, Berkovic SF, Rousseau M, Andermann E, Rouleau GA. Lopes-Cendes I, et al. Among authors: andermann e. Am J Hum Genet. 2000 Feb;66(2):698-701. doi: 10.1086/302768. Am J Hum Genet. 2000. PMID: 10677328 Free PMC article.

6

Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region.

Lopes-Cendes I, Andermann E, Attig E, Cendes F, Bosch S, Wagner M, Gerstenbrand F, Andermann F, Rouleau GA. Lopes-Cendes I, et al. Among authors: andermann e, andermann f. Am J Hum Genet. 1994 May;54(5):774-81. Am J Hum Genet. 1994. PMID: 8178818 Free PMC article.

7

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.

Martin C, Meloche C, Rioux MF, Nguyen DK, Carmant L, Andermann E, Gravel M, Cossette P. Martin C, et al. Among authors: andermann e. Clin Genet. 2014 Dec;86(6):570-4. doi: 10.1111/cge.12311. Epub 2013 Nov 27. Clin Genet. 2014. PMID: 24283814

8

The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.

Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prévost C, Bouchard JP, Mathieu J, Rouleau GA. Casaubon LK, et al. Among authors: andermann e, andermann f. Am J Hum Genet. 1996 Jan;58(1):28-34. Am J Hum Genet. 1996. PMID: 8554065 Free PMC article.

9

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22.

Chan EM, Bulman DE, Paterson AD, Turnbull J, Andermann E, Andermann F, Rouleau GA, Delgado-Escueta AV, Scherer SW, Minassian BA. Chan EM, et al. Among authors: andermann e, andermann f. J Med Genet. 2003 Sep;40(9):671-5. doi: 10.1136/jmg.40.9.671. J Med Genet. 2003. PMID: 12960212 Free PMC article.

10

Mutations in NHLRC1 cause progressive myoclonus epilepsy.

Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW. Chan EM, et al. Among authors: andermann e. Nat Genet. 2003 Oct;35(2):125-7. doi: 10.1038/ng1238. Epub 2003 Sep 7. Nat Genet. 2003. PMID: 12958597

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