Stephanie Bauché

Stephanie Bauché

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Stephanie Bauché

Stephanie Bauché

Publications by authors named "Stephanie Bauché"

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16Publications

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

Ann Clin Transl Neurol 2015 Apr 16;2(4):362-72. Epub 2015 Feb 16.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM F-75013, Paris, France ; APHP, Hôpital Pitié-Salpêtrière, Centre de référence de pathologie neuromusculaire Paris-Est, Institut de Myologie Paris, France.

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http://dx.doi.org/10.1002/acn3.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402082PMC
April 2015

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

Neuromuscul Disord 2013 Dec 4;23(12):998-1009. Epub 2013 Sep 4.

Inserm, U975, Centre de recherche de l'Institut du Cerveau et de la Moelle Épinière (CRICM), Groupe hospitalier Pitié-Salpêtrière, Paris, France; Université Pierre et Marie Curie Paris 6, UMRS975, Paris, France; CNRS, UMR7225, Paris, France; Ecole Pratique des Hautes Etudes, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2013.07.005DOI Listing
December 2013

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

Neuromuscul Disord 2007 May 23;17(5):409-14. Epub 2007 Mar 23.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Unité Fonctionnelle de Cardiogénétique et Myogénétique, Service de Biochimie B, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2007.01.018DOI Listing
May 2007

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

Hum Mol Genet 2004 Dec 20;13(24):3229-40. Epub 2004 Oct 20.

INSERM U582 & IFR Cur, Muscle, Vaisseaux, Institut de Myologie, Hôpital de la Salpêtrière and Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddh333DOI Listing
December 2004

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

Am J Med Genet B Neuropsychiatr Genet 2003 Jan;116B(1):45-50

LGN-CNRS UMR 7091, Bâtiment CERVI, Hôpital de la Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1002/ajmg.b.10797DOI Listing
January 2003