251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands-Reference-Cited by-同舟云学术

251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands

Published:2021-05 Issue:5 Volume:31 Page:466-477
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Laforêt Pascal,Oldfors Anders,Malfatti Edoardo,Vissing John,Colle Marie-Anne,Duran Jordi,Gentry Matthew,Guinovart Joan,Hurley Thomas,Kakhlon Or,Krag Thomas,Landy Hal,Laforêt Pascal,Lilleør Camilla B.,Malfatti Edoardo,Minassian Berge,Mingozzi Federico,Murphy Elaine,Oldfors Anders,Piercy Richard,Piraud Monique,Ramanan Vyas,Stemmerik Mads,Thomsen Christer,Vissing John,Weil Miguel

Funder

European Neuromuscular Centre

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference81 articles.

1. A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle;Malfatti;Neuromuscul Disord,2016

2. Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies;Taratuto;Neuromuscul Disord,2010

3. Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings;Mochel;Ann Neurol,2012

4. A DISTINCT FORM OF ADULT POLYGLUCOSAN BODY DISEASE WITH MASSIVE INVOLVEMENT OF CENTRAL AND PERIPHERAL NEURONAL PROCESSES AND ASTROCYTES

5. Acute but transient neurological deterioration revealing adult polyglucosan body disease;Billot;J Neurol Sci,2013

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