Novel mutation inCNTNAP1results in congenital hypomyelinating neuropathy-Reference-Cited by-同舟云学术

Novel mutation inCNTNAP1results in congenital hypomyelinating neuropathy

Published:2017-02-03 Issue:5 Volume:55 Page:761-765
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Mehta Paulomi¹,Küspert Melanie²,Bale Tejus³,Brownstein Catherine A.⁴⁵,Towne Meghan C.⁴⁵,De Girolami Umberto³,Shi Jiahai⁶,Beggs Alan H.⁴⁵,Darras Basil T.⁷,Wegner Michael²,Piao Xianhua¹,Agrawal Pankaj B.¹⁴⁵

Affiliation:

1. Division of Newborn Medicine, Department of Medicine; Boston Children's Hospital; 300 Longwood Avenue, Harvard Medical School Boston Massachusetts 02115 USA

2. Institut für Biochemie, Emil-Fischer-Zentrum; Friedrich-Alexander-Universität Erlangen-Nürnberg; Erlangen Germany

3. Department of Pathology; Boston Children's Hospital, Harvard Medical School; Boston Massachusetts USA

4. Division of Genetics and Genomics; Boston Children's Hospital, Harvard Medical School; Boston Massachusetts USA

5. The Manton Center for Orphan Disease Research; Boston Children's Hospital, Harvard Medical School; Boston Massachusetts USA

6. Department of Biomedical Sciences; City University of Hong Kong; Hong Kong

7. Department of Neurology; Boston Children's Hospital, Harvard Medical School; Boston Massachusetts USA

Funder

National Institutes of Health

Gene Discovery Core of The Manton Center for Orphan Disease Research

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Reference17 articles.

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3. Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene;Yonekawa;Pediatr Neurol,2013

4. Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion;Jouaud;Neuromuscul Disord,2016

5. Congenital hypomyelinating neuropathy due to a novel MPZ mutation;Sevilla;J Peripher Nerv Syst,2011

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