Adult polyglucosan body disease presenting as a unilateral progressive plexopathy-Reference-Cited by-同舟云学术

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Adult polyglucosan body disease presenting as a unilateral progressive plexopathy

Published:2016-04-25 Issue:6 Volume:53 Page:976-981
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Naddaf Elie¹,Kassardjian Charles D.¹,Kurt Yasemin Gulcan²,Akman Hasan Orhan²,Windebank Anthony J.¹

Affiliation:

1. Department of Neurology; Mayo Clinic; 200 First Street SW Rochester 55905 Minnesota USA

2. Department of Neurology; Columbia University Medical Center; New York New York USA

Publisher

Wiley

Subject

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

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.25041/fullpdf

Reference21 articles.

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

2. Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein;Agamanolis;Muscle Nerve,1980

3. A new muscle glycogen storage disease associated with glycogenin-1 deficiency;Malfatti;Ann Neurol,2014

4. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1;Nilsson;Ann Neurol,2013

5. Early-onset Lafora body disease;Turnbull;Brain,2012

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1. Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource;Molecular Genetics and Metabolism;2023-03

2. Distinct features in adult polyglucosan body disease: a case series;Neuromuscular Disorders;2023-02

3. Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population;Genes;2021-12-15

4. Adult polyglucosan body disease—an atypical compound heterozygous with a novel GBE1 mutation;Neurological Sciences;2021-01-31

5. Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder;Hospital Practice;2021-01-27

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