Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy-Reference-Cited by-同舟云学术

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy

Published:2017-03-23 Issue:5 Volume:56 Page:1001-1005
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Caress James B.¹,Johnson Janel O.²,Abramzon Yevgeniya A.³⁴,Hawkins Gregory A.⁵,Gibbs J. Raphael⁶⁷,Sullivan Elizabeth A.⁸,Chahal Chamanpreet S.⁹,Traynor Bryan J.²

Affiliation:

1. Department of Neurology, Wake Forest School of MedicineMedical Center BlvdWinston‐Salem North Carolina27157 USA

2. Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on AgingNational Institutes of HealthBethesda Maryland USA

3. Sobell Department of Motor Neuroscience and Movement DisordersUCL Institute of NeurologyQueen Square, London United Kingdom

4. Neuromuscular Diseases Research Section Laboratory of Neurogenetics, National Institute on AgingNational Institutes of HealthBethesda Maryland USA

5. Center for Genomics and Personalized Medicine Research, Wake Forest School of MedicineMedical Center BlvdWinston‐Salem NC

6. Computational Biology Core, Laboratory of Neurogenetics, National Institute on AgingNational Institutes of HealthBethesda Maryland USA

7. Department of Molecular Neuroscience, MRC Centre for Neuromuscular Diseases and the Reta Lila Weston Institute of Neurological Studies, Institute of NeurologyUniversity College LondonQueen Square London United Kingdom

8. Neurology AssociatesMerit Health Medical GroupHattiesburg Mississippi USA

9. Neurological AssociatesNew Westminster BC CanadaV3L 3W4

Funder

National Institute on Aging

NINDS

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.25550

Reference23 articles.

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3. Finnish type of familial amyloidosis: cosegregation of asp187→ asn mutation of gelsolin with the disease in three large families;Hiltunen T;Am J Hum Genet,1991

4. Cardiac conduction alterations in a French family with amyloidosis of the finnish type with the p.Asp187Tyr mutation in theGSN gene

5. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome;Meretoja J;Ann Clin Res,1969

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