List of works - Stéphanie Bauché

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

scientific article

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

scientific article published on 23 March 2007

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

scientific article published on 20 June 2014

CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia

scientific article

Congenital myasthenic syndromes due to mutations in the rapsyn gene

scientific article

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

scientific article published in PLoS ONE

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

scientific article published on 16 February 2015

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

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

scientific article published on 23 July 2009

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

scientific journal article

Le support anatomique de la contraction musculaire

scientific article published on 14 February 2009

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

scientific article published on 15 November 2011

MUSK, a new target for mutations causing congenital myasthenic syndrome

scientific article published on 20 October 2004

Major mechanisms involved in the synaptic transmission of the neuromuscular apparatus

scientific article published on 20 February 2009

Modalités et outils d’observation de la jonction neuromusculaire

scientific article published on 18 February 2009

Molecular architecture of the sarcoplasmic reticulum and its role in the ECC

scientific article published on 23 February 2009

Morphological study of CNS lesions and the consequences on rat neuromuscular junction and peripheral nerve using confocal laser scanning microscopy and Koelle's technique

scientific article

Multicenter linkage study of schizophrenia loci on chromosome 22q.

scientific article published in August 2004

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

scientific article published on 07 October 2010

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

scientific article published on 3 July 2013

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy

scientific article

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

scientific article published on 15 July 2017

No major schizophrenia locus detected on chromosome 1q in a large multicenter sample

scientific article published in April 2002

Organisation anatomique et physiologique du nerf périphérique

scientific article published on 23 February 2009

Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene

scientific article

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

scientific article published on 4 September 2013

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

scientific article published on 11 December 2009

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

scientific article

Remaniements expérimentaux et pathologiques de la jonction neuromusculaire

scientific article published on 10 February 2009

Structural and molecular organization, development and maturation of the neuromuscular junction

scientific article published on 23 February 2009

Synapse formation and regeneration

scientific article published on 20 February 2009

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

scientific article

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

scientific article published on 01 October 2005

[Pathophysiological, molecular and metabolic changes at the neuromuscular junction and the peripheral nerve after central nervous system lesions in humans].

scientific article

List of works by Stéphanie Bauché

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

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

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia

Congenital myasthenic syndromes due to mutations in the rapsyn gene

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

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

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

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

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Le support anatomique de la contraction musculaire

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

MUSK, a new target for mutations causing congenital myasthenic syndrome

Major mechanisms involved in the synaptic transmission of the neuromuscular apparatus

Modalités et outils d’observation de la jonction neuromusculaire

Molecular architecture of the sarcoplasmic reticulum and its role in the ECC

Morphological study of CNS lesions and the consequences on rat neuromuscular junction and peripheral nerve using confocal laser scanning microscopy and Koelle's technique

Multicenter linkage study of schizophrenia loci on chromosome 22q.

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

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

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy

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

No major schizophrenia locus detected on chromosome 1q in a large multicenter sample

Organisation anatomique et physiologique du nerf périphérique

Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene

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

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

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

Remaniements expérimentaux et pathologiques de la jonction neuromusculaire

Structural and molecular organization, development and maturation of the neuromuscular junction

Synapse formation and regeneration

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

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

[Pathophysiological, molecular and metabolic changes at the neuromuscular junction and the peripheral nerve after central nervous system lesions in humans].