about
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromesImpaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea[Morphological study of CNS lesions and the consequences on rat neuromuscular junction and peripheral nerve using confocal laser scanning microscopy and Koelle's technique].Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy.CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia.A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.[Congenital myasthenic syndromes due to mutations in the rapsyn gene]MUSK, a new target for mutations causing congenital myasthenic syndrome.[Molecular architecture of the sarcoplasmic reticulum and its role in the ECC].[Structural and molecular organization, development and maturation of the neuromuscular junction].[Major mechanisms involved in the synaptic transmission of the neuromuscular apparatus].[Synapse formation and regeneration].Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.No major schizophrenia locus detected on chromosome 1q in a large multicenter sample.[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.Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.Multicenter linkage study of schizophrenia loci on chromosome 22q.[Pathophysiological, molecular and metabolic changes at the neuromuscular junction and the peripheral nerve after central nervous system lesions in humans].Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencingModalités et outils d’observation de la jonction neuromusculaireA synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndromeCorrection: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital MyastheniaIdentification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse FunctionOrganisation anatomique et physiologique du nerf périphériqueRemaniements expérimentaux et pathologiques de la jonction neuromusculaireLe support anatomique de la contraction musculaireTowards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK
P50
Q24677053-249F6111-0206-4D9B-A44E-BA39C37B364DQ28115635-22E82251-FE66-4C81-8431-D58A0757F36DQ33411186-653E3B6E-D0DD-45BB-B9CF-A58BC50B525DQ33589972-CD64F120-25D5-43BE-8A90-4FFEE8023560Q34166603-A7D06654-24C1-4292-A6A7-FCE30F55E771Q34551830-E2D8957B-9E0E-475B-A501-7D87DB06FC61Q37301198-D13FA729-553F-4B98-88A6-F6D664D53466Q39396842-5AEDB5D9-E4E4-4603-8124-10F34DD15864Q39760999-E86B088E-758D-43CA-9CC1-10A429129BC5Q43220535-36314F3E-62CB-4CD3-B0A1-D27811A54802Q44442886-D4FCC177-0384-41C9-A3B2-FD6435146087Q44656013-96F396C6-B9D9-48F3-BFB6-A616D208FB7FQ44990074-C9CD0958-EBB9-47C8-9DFF-874C25F43612Q45116927-D96CE6D4-8C40-49D0-947B-27AD2ECA9904Q46114206-5CD70C7B-0630-47CF-9075-795BB4693CC4Q46114210-EDB591AA-2257-4F42-BCB8-59A02B4F1B4CQ46115557-22670549-E7E1-4166-8F94-C3543195FA3EQ46115562-C46842D1-0F78-4302-99D7-FDD4D74FA055Q46163126-4C00EB92-3619-4655-AEA3-38D43187940BQ46402486-F041C08B-1C5E-4985-8E75-29CA60EFE7A4Q46662240-AE01F2CF-0A71-43A4-B9DB-B5B8014407B6Q46767075-862EDED0-AE9D-45A3-84BC-092E9839A8F7Q48120299-6D74C4DA-A588-4D79-A03D-F642C6ED713CQ51942673-049ECA0B-936E-4F13-8E67-2FF3762E1BF4Q54493824-1A83B3ED-6E01-4D1E-9C90-CA6693155D63Q60436411-415A0B63-929F-4749-94EC-4593DBF1DE06Q60436480-3A3ACFDB-5F5B-4DE6-A63E-DAF31428644BQ60436486-A8FE72C6-BF3E-4C40-8FB9-753BCF104931Q60472938-B65C40BF-5F89-4EF8-BE42-3C9B8B92BB9FQ60473840-86219B94-2CC2-4208-97C9-5B7D0D0BE932Q60474047-9D4FAC81-E8F7-40FD-A387-6245A00AB239Q60474364-42404BC3-F5F3-4BF0-8335-74DCB5D008AAQ60474537-0D1845B9-BF8C-48E1-8FBE-21488BD79834Q60474541-94230829-8F26-446E-B638-2C9A1E6D66DF
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Stéphanie Bauché
@ast
Stéphanie Bauché
@en
Stéphanie Bauché
@es
Stéphanie Bauché
@nl
Stéphanie Bauché
@sl
type
label
Stéphanie Bauché
@ast
Stéphanie Bauché
@en
Stéphanie Bauché
@es
Stéphanie Bauché
@nl
Stéphanie Bauché
@sl
prefLabel
Stéphanie Bauché
@ast
Stéphanie Bauché
@en
Stéphanie Bauché
@es
Stéphanie Bauché
@nl
Stéphanie Bauché
@sl
P106
P21
P31
P496
0000-0002-6926-339X