D. Chaigne

发表

Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females

F. Rivier, C. Depienne, P. Berquin, 2011, Human mutation.

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

A. Paetau, M. Koenig, T. Joensuu, 2005, Nature Genetics.

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Stéphanie Baulac, Andrew Escayg, Miriam H. Meisler, 2000, Nature Genetics.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

A. Toutain, N. Romero, L. Pasquier, 2013, European Journal of Human Genetics.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

A. Toutain, L. Pasquier, S. Mercier, 2013, European Journal of Human Genetics.

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy

E. Bertini, B. Schlotter-Weigel, E. Malfatti, 2020, Neurology.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age This article has been corrected since online publication and a corrigendum is also printed in this issue

A. Toutain, N. Romero, L. Pasquier, 2013 .

Neonatal echovirus encephalitis with white matter necrosis.

J. Messer, J. Gut, D. Chaigne, 1990, Neuropediatrics.

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

B. Andresen, P. Laforêt, B. Eymard, 2009, Neuromuscular Disorders.

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy

C. Buresi, A. Malafosse, A. Crespel, 2012, Human mutation.

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy

A. Afenjar, B. Gérard, A. Piton, 2021, American journal of medical genetics. Part A.

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

N. Drouot, M. Koenig, D. Stoppa-Lyonnet, 2010, neurogenetics.

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

D. Mouthon, C. Buresi, A. Malafosse, 1999, American journal of human genetics.

Early onset collagen VI myopathies: Genetic and clinical correlations

F. Rivier, A. Toutain, B. Echenne, 2010, Annals of neurology.

Congenital hyperekplexia: five sporadic cases

J. Matis, B. Escande, D. Astruc, 2006, European Journal of Pediatrics.

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

F. Muntoni, N. Petit, C. Jaillard, 2001, Nature Genetics.

Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon

A. Krol, P. Guicheney, A. Lescure, 2007, Nucleic acids research.

Homozygosity mapping of Marinesco–Sjögren syndrome to 5q31

M. Koenig, M. Gribaa, H. Dollfus, 2003, European Journal of Human Genetics.

Regional cerebral glucose metabolism in epilepsies with continuous spikes and waves during sleep

Steven Laureys, P. Paquier, I. Jambaqué, 2004, Neurology.

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome

M. Koenig, H. Dollfus, C. Lagier-Tourenne, 2002, Journal of medical genetics.

Longitudinal study of regional changes in cerebral glucose metabolism in epileptic syndromes with continuous spikes and waves during slow sleep

S. Goldman, X. Tiège, P. Bogaert, 2002 .

Isolated intention tremor: a sign of metastatic neuroblastoma

P. Lutz, D. Chaigne, J. Levy, 1991, European Journal of Pediatrics.