Publications by authors named "Elisabeth Sarrazin"

10Publications

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

J Med Genet 2020 Jul 10;57(7):466-474. Epub 2020 Apr 10.

INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France

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http://dx.doi.org/10.1136/jmedgenet-2019-106425DOI Listing
July 2020

[Practice of liberal physiotherapist profession in the management of patients with Duchenne muscular dystrophy in Martinique].

Med Sci (Paris) 2019 Nov 20;35 Hors série n° 2:29-35. Epub 2019 Dec 20.

Centre de Référence des Maladies rares neuromusculaires, AOC, Hôpital Pierre Zobda, Quitman, niveau -1, BP 632, CHU Martinique, 97200 Fort de France, France.

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http://dx.doi.org/10.1051/medsci/2019187DOI Listing
November 2019

[Episodes of recurrent pneumothorax in a patient with collagen VI-related congenital muscular dystrophy].

Med Sci (Paris) 2017 Nov 15;33 Hors série n°1:27-29. Epub 2017 Nov 15.

Hôpital Pierre-Zobda-Quitman, CHU de Martinique, Fort-de-France, Martinique, France.

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http://dx.doi.org/10.1051/medsci/201733s105DOI Listing
November 2017

Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.

Muscle Nerve 2015 Nov 18;52(5):895-9. Epub 2015 Jun 18.

UPMC Université Paris 06, Institut National de la Santé et de la Recherche Médicale UMR 974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, 47 Boulevard de l'Hôpital, 75013, Paris, France.

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http://dx.doi.org/10.1002/mus.24699DOI Listing
November 2015

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

Am J Med Genet A 2014 Sep 20;164A(9):2344-50. Epub 2014 May 20.

Hôpital Henri Mondor, AP-HP, Laboratoire de Biochimie et Génétique, Créteil, France; INSERM, U955, Equipe 11, Créteil, France; Université Paris Est, UMR_S955, UPEC, Créteil, France.

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http://dx.doi.org/10.1002/ajmg.a.36612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225272PMC
September 2014

Growth and psychomotor development of patients with Duchenne muscular dystrophy.

Eur J Paediatr Neurol 2014 Jan 25;18(1):38-44. Epub 2013 Sep 25.

Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany; SPZ Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany; Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Campus Mitte, Charitéplatz 1, 10115 Berlin, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2013.08.008DOI Listing
January 2014