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1,402 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: jansen a. Mov Disord. 2004 Dec;19(12):1424-31. doi: 10.1002/mds.20264. Mov Disord. 2004. PMID: 15514925 Review.
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. Ann Neurol. 2006 Nov;60(5):528-39. doi: 10.1002/ana.21037. Ann Neurol. 2006. PMID: 17120248
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. Epilepsia. 2008 May;49(5):910-3. doi: 10.1111/j.1528-1167.2008.01542.x. Epub 2008 Feb 7. Epilepsia. 2008. PMID: 18266750
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.
Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E. Al-Asmi A, et al. Among authors: jansen ac. Epilepsia. 2005 Aug;46(8):1256-63. doi: 10.1111/j.1528-1167.2005.65804.x. Epilepsia. 2005. PMID: 16060937
Cognitive functioning in bilateral perisylvian polymicrogyria (BPP): clinical and radiological correlations.
Jansen AC, Leonard G, Bastos AC, Esposito-Festen JE, Tampieri D, Watkins K, Andermann F, Andermann E. Jansen AC, et al. Epilepsy Behav. 2005 May;6(3):393-404. doi: 10.1016/j.yebeh.2005.01.012. Epilepsy Behav. 2005. PMID: 15820349
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. Weckhuysen S, et al. Among authors: jansen a. Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644. Ann Neurol. 2012. PMID: 22275249
Genetics of epilepsy syndromes starting in the first year of life.
Deprez L, Jansen A, De Jonghe P. Deprez L, et al. Among authors: jansen a. Neurology. 2009 Jan 20;72(3):273-81. doi: 10.1212/01.wnl.0000339494.76377.d6. Neurology. 2009. PMID: 19153375 Review.
Neuropathology of genetically defined malformations of cortical development - a systematic literature review.
Brock S, Cools F, Jansen AC. Brock S, et al. Among authors: jansen ac. Neuropathol Appl Neurobiol. 2021 Jan 21. doi: 10.1111/nan.12696. Online ahead of print. Neuropathol Appl Neurobiol. 2021. PMID: 33480109
Individual differences in extinction learning predict weight loss after treatment: A pilot study.
van den Akker K, Schyns G, Jansen A. van den Akker K, et al. Among authors: jansen a. Eur Eat Disord Rev. 2020 Nov;28(6):782-788. doi: 10.1002/erv.2778. Epub 2020 Aug 16. Eur Eat Disord Rev. 2020. PMID: 33463853 Free PMC article.
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Kumps C, D'haenens E, Vergult S, Leus J, van Coster R, Jansen A, Devriendt K, Oostra A, Vanakker OM. Kumps C, et al. Among authors: jansen a. Clin Genet. 2020 Dec 19. doi: 10.1111/cge.13901. Online ahead of print. Clin Genet. 2020. PMID: 33340101
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