Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients-Reference-Cited by-同舟云学术

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Published:2015-04-29 Issue:1 Volume:89 Page:34-43
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Rudnik-Schöneborn S.¹,Tölle D.¹,Senderek J.¹²,Eggermann K.¹,Elbracht M.¹,Kornak U.³,von der Hagen M.⁴,Kirschner J.⁵,Leube B.⁶,Müller-Felber W.⁷,Schara U.⁸,von Au K.⁹,Wieczorek D.¹⁰,Bußmann C.¹¹,Zerres K.¹

Affiliation:

1. Institute of Human Genetics; RWTH Aachen University Hospital; Aachen Germany

2. Friedrich-Baur-Institute; LMU Munich; Munich Germany

3. Institute of Medical Genetics and Human Genetics; Charité-University Berlin; Berlin Germany

4. Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus; Technische Universität Dresden; Dresden Germany

5. Department of Neuropediatrics; University Hospital Freiburg; Freiburg Germany

6. Medical Faculty, Institute of Human Genetics and Anthropology; Heinrich-Heine University; Düsseldorf Germany

7. Dr. v. Hauner Childrens Hospital; University of Munich; Munich Germany

8. Department of Neuropediatrics, Developmental Neurology and Social Pediatrics; University Essen; Essen Germany

9. SPZ Pediatric Neurology; Charité University Berlin; Berlin Germany

10. Institute of Human Genetics; University Essen; Essen Germany

11. Center for Children and Adolescent Medicine; University Clinic Heidelberg; Heidelberg Germany

Funder

IZKF Biomat RWTH Aachen

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12594/fullpdf

Reference29 articles.

1. Charcot-Marie-Tooth disease subtypes and genetic testing strategies;Saporta;Ann Neurol,2011

2. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing;Murphy;J Neurol Neurosurg Psychiatry,2012

3. Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population;Gess;Neuromuscul Disord,2013

4. Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies;Ostern;BMC Med Genet,2013

5. Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population;Manganelli;J Peripher Nerv Syst,2014

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