Lista de obras - Stéphanie Bauché - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

Congenital myasthenic syndromes due to mutations in the rapsyn gene

artículo científico publicado en 2004

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.

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

MUSK, a new target for mutations causing congenital myasthenic syndrome

artículo científico publicado en 2004

Major mechanisms involved in the synaptic transmission of the neuromuscular apparatus

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2009

Multicenter linkage study of schizophrenia loci on chromosome 22q.

artículo científico publicado en 2004

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 2002

Organisation anatomique et physiologique du nerf périphérique

artículo científico publicado en 2009

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2003

Remaniements expérimentaux et pathologiques de la jonction neuromusculaire

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Synapse formation and regeneration

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

Lista de obras de 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].