Philippe Couarch

发表

A novel locus for generalized epilepsy with febrile seizures plus in French families.

M. Baulac, C. Depienne, O. Dulac, 2008, Archives of neurology.

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

A. Bonnet, F. Pasquier, S. Rivaud-Pechoux, 2014, Neurology.

Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers

B. Dubois, V. Meininger, A. Brice, 2015, Alzheimer's & dementia.

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

B. Dubois, R. Guerreiro, A. Brice, 2014, Neurobiology of Aging.

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

M. Meisler, R. Guerrini, G. Lenk, 2014, Neurology.

A locus for bilateral occipital polymicrogyria maps to chromosome 6q16–q22

S. Heath, S. Lehéricy, M. Ruberg, 2009, neurogenetics.

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

M. Baulac, V. Navarro, S. Antonarakis, 2014, Neurology.

ELOVL5 mutations cause spinocerebellar ataxia 38.

F. Tempia, A. Durr, M. Papotti, 2014, American journal of human genetics.

REPORT ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

F. Tempia, A. Durr, M. Papotti, 2014 .

A wave of deep intronic mutations in X-linked Alport Syndrome.

O. Gribouval, C. Antignac, C. Bole-Feysot, 2023, Kidney international.

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

C. Depienne, O. Dulac, S. Baulac, 2011, Journal of Molecular Medicine.

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

I. Scheffer, M. Baulac, S. Berkovic, 2007, Epilepsy Research.