Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease-Reference-Cited by-同舟云学术

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Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

Published:2000-04 Issue:4 Volume:47 Page:536-540
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Ziemssen Focke,Sindern Eckhart,Schr�der J. Michael,Shin Yoon S.,Zange Jahen,Kilimann Manfred W.,Malin Jean-Pierre,Vorgerd Matthias

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference15 articles.

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

2. Adult Polyglucosan Body Disease (APBD)

3. Dementia of frontal lobe type due to adult polyglucosan body disease

4. Polyglucosan body disease simulating amyotrophic lateral sclerosis

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1. Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV;Molecular Genetics and Metabolism Reports;2024-06

2. A United States-based patient-reported adult polyglucosan body disease registry: initial results;Therapeutic Advances in Rare Disease;2024-01

3. Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls;Frontiers in Genetics;2023-12-18

4. Case 318: Adult Polyglucosan Body Disease;Radiology;2023-10-01

5. Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP‐43 inclusions and ageing‐related tau astrogliopathy in a family with a GBE1 mutation;Neuropathology and Applied Neurobiology;2023-01-10

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