الرئيسية › دليل الباحثين › Éric Leguern
Éric Leguern
الانتماء : Centre National de la Recherche Scientifique · Inserm · Sorbonne Université · Assistance Publique – Hôpitaux de Paris · Pitié-Salpêtrière Hospital · Institut du Cerveau
- 29منشورات (انتماء فرنسي)
- 340مجموع المنشورات
- 18427الاستشهادات
- 77مؤشر h
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إنشاء ملفي المجاني إضافة منشوراتيمجالات البحث
- Hereditary Neurological Disorders
- Epilepsy research and treatment
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Peripheral Neuropathies and Disorders
المنشورات (29)
- Major intra‐familial variability in Unverricht‐Lundborg disease
- Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
- Characterization of Recessive Parkinson Disease in a Large Multicenter Study
- Juvenile myoclonic epilepsy phenotype in a family with Unverricht‐Lundborg disease
- Genetic and Phenotypic Characterisation of Autosomal Recessive Parkinson's Disease in a Large Multicentre Cohort
- Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes
- Early onset Charcot-Marie-Tooth disease: Clinical and genetic spectrum in a Tunisian series (P5.116)
- Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents
- Charcot-Marie-Tooth disease: Clinical and genetic spectrum in a Tunisian series (P3.181)
- The involvement of the trans-generational effect in the high incidence of the hydatidiform mole in Africa
- Wide Spectrum of Neuropathy in Homozygous and Heterozygous Novel Frameshift MPZ Mutation in a Tunisian Family (P2.062)
- Deux nouvelles mutations du gène de la myelin protein zero (MPZ) au cours de la maladie de Charcot-Marie-Tooth dans deux familles Tunisiennes
- Les formes autosomiques récessives de la maladie de Charcot Marie Tooth : étude clinique électrophysiologique et génétique d’une cohorte tunisienne
- Charcot Marie Tooth Disease - Autosomal Recessive Forms: Clinical, Electrophysiology and Genetic Study in a Tunisian Cohort (P05.149)
- REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
- Un CMT1A génétiquement confirmée mimant une CIDP à rechute
- Familial form of typical childhood absence epilepsy in a consanguineous context
- Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
- A locus for bilateral occipital polymicrogyria maps to chromosome 6q16–q22
- Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
- Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families
- Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma
- Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations
- Charcot–Marie–Tooth 2-like presentation of an Algerian family with giant axonal neuropathy
- Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity
- The Autosomal Recessive Form of CMT Disease Linked to 5q31‐q33
- The Autosomal Recessive Form of CMT Disease Linked to 5q31‐q33
- A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot‐Marie‐Tooth disease
- Patients homozygous for the 17p 11.2 duplication in charcot‐marie‐tooth type 1A Disease
المؤلفون المشاركون
- Alexis Brice
- Djamel Grid
- Thierry Maisonobe
- Hamid Azzedine
- Tarik Hamadouche
- Alexandra Dürr
- Fabienne Clot
- Cécile Cazeneuve
- Ahmed Bouhouche
- M. Kessali
- Merle Ruberg
- Stéphanie Baulac
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