Stéphanie Bauché

Sorbonne Université

France

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Articles (7)

Year:

2024

Year:

2023

Year:

2023

Year:

2022

Year:

2022

Year:

2022

Year:

2020

Collaborators (5)

Morwena Latouche

Associate Professor

Institut du Cerveau et de la Moelle Épinière

FRANCE

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Laure Strochlic

Sorbonne Université

FRANCE

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Dominique Langui

INSERM

FRANCE

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Sébastien Dussaud

Sorbonne Université Campus Pierre et Marie Curie

FRANCE

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Stephan Kröger

biozentrum ludwig‐maximilians‐universität (lmu) münchen planegg‐martinsried germany

GERMANY

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Stéphanie Bauché

Research Interests

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Articles (7)

Pathogenic <i>DPAGT1</i> variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation

C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

The cell polarity protein Vangl2 in the muscle shapes the neuromuscular synapse by binding to and regulating the tyrosine kinase MuSK

Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

Collaborators (5)

Morwena Latouche

Laure Strochlic

Dominique Langui

Sébastien Dussaud

Stephan Kröger

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