Jeanine Koenig

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The origin of tubular aggregates in human myopathies

B. Eymard, J. Leroy, F. Chevessier, 2005, The Journal of pathology.

B. Eymard, P. Richard, D. Hantaı̈, 2004, Handbook of clinical neurology.

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

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

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

N. Romero, B. Eymard, B. Fontaine, 2013, Neuromuscular Disorders.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

N. Romero, P. Laforêt, B. Eymard, 2017, Journal of Neurology.

Thrombin reduces MuSK and acetylcholine receptor expression along with neuromuscular contact size in vitro

L. Schaeffer, S. Bonavaud, B. Faraut, 2004, The European journal of neuroscience.

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

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

A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.

S. Bartling, E. Girard, J. Molgó, 2008, Human molecular genetics.

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.

V. Meininger, F. Salachas, E. Malfatti, 2013, Brain : a journal of neurology.

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.

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

B. Eymard, J. Leroy, E. Krejci, 2003, Neuromuscular Disorders.

Fura-2 imaging of spontaneous and electrically induced oscillations of intracellular free Ca2+ in rat myotubes

D. Georgescauld, P. Méléard, J. Koenig, 1991, Pflügers Archiv.

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients

V. Meininger, F. Salachas, A. Béhin, 2015, Annals of clinical and translational neurology.

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

B. Eymard, J. Leroy, M. Fardeau, 2004, Neuromuscular Disorders.

Rescue of excitation-contraction coupling in dysgenic muscle by addition of fibroblasts in vitro

K. Beam, P. Courbin, J. Koenig, 1989, Neuron.

Effect of sera from myasthenia gravis patients and of α-bungarotoxin on acetylcholinesterase during in vitro neuromuscular synaptogenesis

B. Eymard, P. Courbin, S. Porte, 1993, Journal of the Neurological Sciences.

Thrombin downregulates muscle acetylcholine receptors via an IP3 signaling pathway by activating its G‐protein‐coupled protease‐activated receptor‐1

L. Schaeffer, M. Doyennette, B. Faraut, 2003, Journal of Cellular Physiology.

Mutations in GFPT 1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregates myopathy with synaptopathy

Nathalie, N. Romero, P. Laforêt, 2017 .

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

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

Immunocytochemical characterization of a new marker of fibrous and reactive astrocytes

J. Ridet, A. Privat, G. Alonso, 1995, Cell and Tissue Research.

Characteristics of skeletal muscle in mdx mutant mice.

S. de la Porte, J Koenig, S De la Porte, 1999, International review of cytology.

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.

Congenital myasthenic syndromes

B. Eymard, D. Hantaı̈, Jeanine Koenig, 2004, Current opinion in neurology.

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.

Restoration of dysgenic murine (mdg) myotube contraction after addition of Schwann cells from normal mice in vitro

P. Courbin, J. Koenig, J. Powell, 1989, Biology of the cell.