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Page 1
ELOVL5 mutations cause spinocerebellar ataxia 38.
Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A. Di Gregorio E, et al. Among authors: couarch p. Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065913 Free PMC article.
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.
Le Ber I, De Septenville A, Guerreiro R, Bras J, Camuzat A, Caroppo P, Lattante S, Couarch P, Kabashi E, Bouya-Ahmed K, Dubois B, Brice A. Le Ber I, et al. Among authors: couarch p. Neurobiol Aging. 2014 Oct;35(10):2419.e23-2419.e25. doi: 10.1016/j.neurobiolaging.2014.04.010. Epub 2014 Apr 18. Neurobiol Aging. 2014. PMID: 24910390 Free PMC article.
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.
Lattante S, Millecamps S, Stevanin G, Rivaud-Péchoux S, Moigneu C, Camuzat A, Da Barroca S, Mundwiller E, Couarch P, Salachas F, Hannequin D, Meininger V, Pasquier F, Seilhean D, Couratier P, Danel-Brunaud V, Bonnet AM, Tranchant C, LeGuern E, Brice A, Le Ber I, Kabashi E; French Research Network on FTD and FTD-ALS. Lattante S, et al. Among authors: couarch p. Neurology. 2014 Sep 9;83(11):990-5. doi: 10.1212/WNL.0000000000000778. Epub 2014 Aug 6. Neurology. 2014. PMID: 25098532 Free PMC article.
Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers.
Caroppo P, Camuzat A, De Septenville A, Couratier P, Lacomblez L, Auriacombe S, Flabeau O, Jornéa L, Blanc F, Sellal F, Cretin B, Meininger V, Fleury MC, Couarch P, Dubois B, Brice A, Le Ber I. Caroppo P, et al. Among authors: couarch p. Alzheimers Dement (Amst). 2015 Oct 30;1(4):481-6. doi: 10.1016/j.dadm.2015.10.002. eCollection 2015 Dec. Alzheimers Dement (Amst). 2015. PMID: 27239526 Free PMC article.
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
Couarch P, Vernia S, Gourfinkel-An I, Lesca G, Gataullina S, Fedirko E, Trouillard O, Depienne C, Dulac O, Steschenko D, Leguern E, Sanz P, Baulac S. Couarch P, et al. J Mol Med (Berl). 2011 Sep;89(9):915-25. doi: 10.1007/s00109-011-0758-y. Epub 2011 Apr 20. J Mol Med (Berl). 2011. PMID: 21505799 Free PMC article.
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.
Picard F, Makrythanasis P, Navarro V, Ishida S, de Bellescize J, Ville D, Weckhuysen S, Fosselle E, Suls A, De Jonghe P, Vasselon Raina M, Lesca G, Depienne C, An-Gourfinkel I, Vlaicu M, Baulac M, Mundwiller E, Couarch P, Combi R, Ferini-Strambi L, Gambardella A, Antonarakis SE, Leguern E, Steinlein O, Baulac S. Picard F, et al. Among authors: couarch p. Neurology. 2014 Jun 10;82(23):2101-6. doi: 10.1212/WNL.0000000000000488. Epub 2014 May 9. Neurology. 2014. PMID: 24814846
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noé E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E. Baulac S, et al. Among authors: couarch p. Neurology. 2014 Mar 25;82(12):1068-75. doi: 10.1212/WNL.0000000000000241. Epub 2014 Mar 5. Neurology. 2014. PMID: 24598713 Free PMC article.
A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.
Ben Cheikh BO, Baulac S, Lahjouji F, Bouhouche A, Couarch P, Khalili N, Regragui W, Lehericy S, Ruberg M, Benomar A, Heath S, Chkili T, Yahyaoui M, Jiddane M, Ouazzani R, LeGuern E. Ben Cheikh BO, et al. Among authors: couarch p. Neurogenetics. 2009 Feb;10(1):35-42. doi: 10.1007/s10048-008-0143-3. Epub 2008 Aug 29. Neurogenetics. 2009. PMID: 18758830
11 results