S. Bauché

Discipline

Type de document

Co-auteur

P. Richard

T. Kuntzer

D. Hantai

K. Gaudon

E. Fournier

B. Eymard

I. Wargon

T. Stojkovic

D. Sternberg

L. Schaeffer

M.A. Rüegg

A. Rouche

S. Nafissi

H.A. Lecuyer

A. Lebail

J. Koenig

C. Huzé

I. Grosjean

E. Goillot

M. Fardeau

F. Chevessier

A. Chaboud

A. Brancaccio

V. Bernard

A. Ben Ammar

N. Alexandri

Date

Source

Serveur académique Lausannois (2)

Mot-clé

mutant (2) gène (2) adulte (2) Forms (2) Syndromes (2) Muscles (2) Human beings (2) adulte (2) protéine (1) association (1) mutation (1) analyse (1) ADN (1) maladie (1) âge (1) ligne (1) enfant (1) analyse (1) jeune (1) Causes (1) Treatment (1) Case (1) Inhibitors (1) Identification (1) Phenotype (1) Dystrophin (1) Acetylcholinesterase (1) Crises (1) Tail (1) Struggle (1)

Documents écrit par S. Bauché (2) | parle de S. Bauché (0)

Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.

I. Wargon et al. (2012)

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

C. Huzé et al. (2009)