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505 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.
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.
The role of MRI and nerve root biopsy in the diagnosis of neurosarcoidosis.
Moore FG, Andermann F, Richardson J, Tampieri D, Giaccone R. Moore FG, et al. Among authors: andermann f. Can J Neurol Sci. 2001 Nov;28(4):349-53. doi: 10.1017/s0317167100001578. Can J Neurol Sci. 2001. PMID: 11766780
Infantile hypotonia and paroxysmal dystonia: a variant of alternating hemiplegia of childhood?
Andermann F, Ohtahara S, Andermann E, Camfield P, Kobayashi K. Andermann F, et al. Among authors: andermann e. Mov Disord. 1994 Mar;9(2):227-9. doi: 10.1002/mds.870090219. Mov Disord. 1994. PMID: 8196689
Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study.
Berkovic SF, Carpenter S, Evans A, Karpati G, Shoubridge EA, Andermann F, Meyer E, Tyler JL, Diksic M, Arnold D, et al. Berkovic SF, et al. Among authors: andermann f. Brain. 1989 Oct;112 ( Pt 5):1231-60. doi: 10.1093/brain/112.5.1231. Brain. 1989. PMID: 2508988 Review.
The Ramsay Hunt syndrome is no longer a useful diagnostic category.
Andermann F, Berkovic S, Carpenter S, Andermann E. Andermann F, et al. Among authors: andermann e. Mov Disord. 1989;4(1):13-7. doi: 10.1002/mds.870040104. Mov Disord. 1989. PMID: 2494436 Review. No abstract available.
CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.
Verlaan DJ, Laurent SB, Sure U, Bertalanffy H, Andermann E, Andermann F, Rouleau GA, Siegel AM. Verlaan DJ, et al. Among authors: andermann e, andermann f. Neurology. 2004 Apr 13;62(7):1213-5. doi: 10.1212/01.wnl.0000118299.55857.bb. Neurology. 2004. PMID: 15079030
Familial alternating epilepsia partialis continua with chronic encephalitis: another variant of Rasmussen syndrome?
Silver K, Andermann F, Meagher-Villemure K. Silver K, et al. Among authors: andermann f. Arch Neurol. 1998 May;55(5):733-6. doi: 10.1001/archneur.55.5.733. Arch Neurol. 1998. PMID: 9605733
Mitochondrial dysfunction in multiple symmetrical lipomatosis.
Berkovic SF, Andermann F, Shoubridge EA, Carpenter S, Robitaille Y, Andermann E, Melmed C, Karpati G. Berkovic SF, et al. Among authors: andermann e, andermann f. Ann Neurol. 1991 May;29(5):566-9. doi: 10.1002/ana.410290519. Ann Neurol. 1991. PMID: 1650162
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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