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Annals of Neurology|August 12, 2000
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C geneG Bonne, E Mercuri, A Muchir, et al.Journal of Medical Genetics|May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21M Ali, L J Highet, D Lacombe, et al.Journal of Medical Genetics|January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesP de Lonlay, N Seta, S Barrot, et al.Neurology|December 10, 2008
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North AfricaP Richard, K Gaudon, H Haddad, et al.Neuromuscular Disorders : NMD|October 29, 2000
Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countriesD Chandler, D Angelicheva, L Heather, et al.Neurogenetics|March 7, 2008
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?M Y Frédéric, F Clot, L Cif, et al.Brain : a Journal of Neurology|August 22, 2009
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patientsM Anheim, B Monga, M Fleury, et al.Revue Neurologique|August 20, 2013
[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases]V Humbertclaude, D Hamroun, M-C Picot, et al.Human Mutation|November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndromeV Laugel, C Dalloz, M Durand, et al.Pageof 19