Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy-Reference-Cited by-同舟云学术

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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Published:2017-03 Issue:3 Volume:100 Page:537-545
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Osborn Daniel P.S.,Pond Heather L.,Mazaheri Neda,Dejardin Jeremy,Munn Christopher J.,Mushref Khaloob,Cauley Edmund S.,Moroni Isabella,Pasanisi Maria Barbara,Sellars Elizabeth A.,Hill R. Sean,Partlow Jennifer N.,Willaert Rebecca K.,Bharj Jaipreet,Malamiri Reza Azizi,Galehdari Hamid,Shariati Gholamreza,Maroofian Reza,Mora Marina,Swan Laura E.,Voit Thomas,Conti Francesco J.,Jamshidi Yalda,Manzini M. Chiara

Funder

EuroBioBank and Telethon Network Genetic Biobank

Manton Center for Orphan Disease Research

Muscular Dystrophy Association

March of Dimes

Wellcome Trust Institutional Strategic Support Fund

Medical Research Council

NIH National Center for Advancing Translational Sciences

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference34 articles.

1. Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

2. Diagnostic approach to the congenital muscular dystrophies;Bönnemann;Neuromuscul. Disord.,2014

3. What disorders of cortical development tell us about the cortex: one plus one does not always make two;Manzini;Curr. Opin. Genet. Dev.,2011

4. The ever-expanding spectrum of congenital muscular dystrophies;Mercuri;Ann. Neurol.,2012

5. The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy;Wells;J. Biol. Chem.,2013

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