Publications by authors named "Philippe Couarch"

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A wave of deep intronic mutations in X-linked Alport syndrome.
Marie Boisson, Christelle Arrondel, Nicolas Cagnard, Vincent Morinière, Zaïna Aït Arkoub, Philippe Couarch

Kidney Int· August 2023

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Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers.
Paola Caroppo, Agnès Camuzat, Anne De Septenville, Philippe Couratier, Lucette Lacomblez, Philippe Couarch

Alzheimers Dement (Amst)· December 2015

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Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.
Isabelle Le Ber, Anne De Septenville, Rita Guerreiro, José Bras, Agnès Camuzat, Philippe Couarch

Neurobiol Aging· October 2014

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Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.
Serena Lattante, Stéphanie Millecamps, Giovanni Stevanin, Sophie Rivaud-Péchoux, Carine Moigneu, Philippe Couarch

Neurology· September 2014

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ELOVL5 mutations cause spinocerebellar ataxia 38.
Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, Daniela Lacerenza, Marta Ferrero, Philippe Couarch

Am J Hum Genet· August 2014

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DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.
Fabienne Picard, Periklis Makrythanasis, Vincent Navarro, Saeko Ishida, Julitta de Bellescize, Philippe Couarch

Neurology· June 2014

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Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
Stéphanie Baulac, Guy M Lenk, Béatrice Dufresnois, Bouchra Ouled Amar Bencheikh, Philippe Couarch

Neurology· March 2014

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Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
Philippe Couarch, Santiago Vernia, Isabelle Gourfinkel-An, Gaëtan Lesca, Svetlana Gataullina

J Mol Med (Berl)· September 2011

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A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.
Bouchra Ouled Amar Ben Cheikh, Stéphanie Baulac, Fatiha Lahjouji, Ahmed Bouhouche, Philippe Couarch

Neurogenetics· February 2009

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A novel locus for generalized epilepsy with febrile seizures plus in French families.
Stéphanie Baulac, Isabelle Gourfinkel-An, Philippe Couarch, Christel Depienne, Anna Kaminska

Arch Neurol· July 2008

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Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.
Elodie Chabrol, Isabelle Gourfinkel-An, Ingrid E Scheffer, Fabienne Picard, Philippe Couarch

Epilepsy Res· August 2007

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