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239 results
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Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene.
Badhwar A, Jansen A, Andermann F, Pandolfo M, Andermann E. Badhwar A, et al. Among authors: andermann e, andermann f. Mov Disord. 2004 Dec;19(12):1424-31. doi: 10.1002/mds.20264. Mov Disord. 2004. PMID: 15514925 Review.
Evidence for abnormal regulation of insulin receptors in Friedreich's ataxia.
Fantus IG, Seni MH, Andermann E. Fantus IG, et al. Among authors: andermann e. J Clin Endocrinol Metab. 1993 Jan;76(1):60-3. doi: 10.1210/jcem.76.1.8421104. J Clin Endocrinol Metab. 1993. PMID: 8421104
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.
Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B, Mercier J, Poirier J, Capozzoli F, Bouchard JP, Lemieux B, Mathieu J, Vanasse M, Seni MH, Graham G, Andermann F, Andermann E, Melançon SB, Keats BJ, Di Donato S, Pandolfo M. Montermini L, et al. Among authors: andermann e, andermann f. Ann Neurol. 1997 May;41(5):675-82. doi: 10.1002/ana.410410518. Ann Neurol. 1997. PMID: 9153531
Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.
Jansen AC, Andermann E, Niel F, Creveaux I, Boespflug-Tanguy O, Andermann F. Jansen AC, et al. Among authors: andermann e, andermann f. Epilepsia. 2008 May;49(5):910-3. doi: 10.1111/j.1528-1167.2008.01542.x. Epub 2008 Feb 7. Epilepsia. 2008. PMID: 18266750
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE. Muona M, et al. Among authors: andermann e, andermann f. Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17. Nat Genet. 2015. PMID: 25401298 Free PMC article.
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
Lafrenière RG, Rochefort DL, Chrétien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, Patry G, Farrell K, Söderfeldt B, Federico A, Hale BR, Cossio OH, Sørensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA. Lafrenière RG, et al. Among authors: andermann e, andermann f. Nat Genet. 1997 Mar;15(3):298-302. doi: 10.1038/ng0397-298. Nat Genet. 1997. PMID: 9054946
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
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
The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, Pianese L, Iodice L, Farina G, Monticelli A, Turano M, Filla A, De Michele G, Cocozza S. Montermini L, et al. Among authors: andermann e. Hum Mol Genet. 1997 Aug;6(8):1261-6. doi: 10.1093/hmg/6.8.1261. Hum Mol Genet. 1997. PMID: 9259271
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AM, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJ, Andermann E. Jansen AC, et al. Among authors: andermann e, andermann f. Ann Neurol. 2006 Nov;60(5):528-39. doi: 10.1002/ana.21037. Ann Neurol. 2006. PMID: 17120248
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