K. Gaudon

发表

MUSK, a new target for mutations causing congenital myasthenic syndrome.

C. Legay, L. Schaeffer, E. Goillot, 2004, Human molecular genetics.

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

D. Orlikowski, L. Viollet, B. Eymard, 2010, Journal of Neurology.

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

L. Schaeffer, E. Goillot, A. Taly, 2013, PloS one.

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

A. Chaboud, L. Schaeffer, E. Goillot, 2009, American journal of human genetics.

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

E. Génin, H. Lochmüller, J. Pouget, 2008, Neurology.

congenital myasthenia in North Africa 1293 insG founder mutation is a frequent cause of CHRNE The

E. Génin, J. Pouget, A. Barois, 2008 .

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

B. Eymard, T. Stojkovic, T. Kuntzer, 2012, Neuromuscular Disorders.

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes

A. Barois, B. Eymard, B. Hainque, 2003, Journal of medical genetics.

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome

B. Echenne, B. Eymard, E. Fournier, 2007, Neuromuscular Disorders.

A severe case of PLOD1 ‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report

X. Jeunemaître, P. de Mazancourt, K. Bénistan, 2023, Clinical case reports.

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

B. Eymard, F. Bouhour, P. Richard, 2010, Journal of Medical Genetics.

Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK.

C. Legay, L. Schaeffer, E. Goillot, 2005, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Titin copy number variations associated with dominant inherited phenotypes

L. Guyant‐Maréchal, G. Demidov, B. Udd, 2023, Journal of Medical Genetics.