Phenotypic spectrum of Charcot−Marie−Tooth disease due toLITAF/SIMPLEmutations: a study of 18 patients-Reference-Cited by-同舟云学术

Phenotypic spectrum of Charcot−Marie−Tooth disease due toLITAF/SIMPLEmutations: a study of 18 patients

Published:2017-02-16 Issue:3 Volume:24 Page:530-538
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Guimarães-Costa R.¹,Iancu Ferfoglia R.¹,Leonard-Louis S.¹,Ziegler F.²,Magy L.³,Fournier E.⁴,Dubourg O.¹,Bouche P.⁴,Maisonobe T.⁴,Lacour A.⁵,Moerman A.⁶,Latour P.⁷,Stojkovic T.¹

Affiliation:

1. Centre de Référence des Maladies Neuromusculaires Paris Est; Institut de Myologie; Hôpital Pitié-Salpêtrière; Paris France

2. Service de Neurologie; Centre Hospitalier Intercommunale de la Haute Saône; Vesoul France

3. Centre de Référence Neuropathies Périphérique Rares; CHU de Limoges − Hôpital Dupuytren; Limoges France

4. Département de Neurophysiologie Clinique; Hôpital Pitié-Salpêtrière; Paris France

5. Clinique Neurologique; Centre Hospitalier Universitaire de Lille; Lille France

6. Département de Génétique Médicale; Hôpital Jeanne de Flandres; Centre Hospitalier Universitaire de Lille; Lille France

7. Service de Neurobiologie; Centre de Biologie et Pathologie Est, Centre Hospitalier Universitaire de Lyon HCL, GH Est; Lyon France

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ene.13239/fullpdf

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4. The various Charcot−Marie−Tooth diseases;Vallat;Curr Opin Neurol,2013

5. Spectrum of mutations in Finnish patients with Charcot−Marie−Tooth disease and related neuropathies;Silander;Hum Mutat,1998

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