Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype-Reference-Cited by-同舟云学术

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Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype

Published:2002-03 Issue:2 Volume:195 Page:129-138
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Yoshizawa Toshihiro,Kohno Yutaka,Nissato Sumiko,Shoji Shin'ichi

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference39 articles.

1. The GM2 gangliosidoses;Gravel,1995

2. The GM2 gangliosidoses;Kolodny,1997

3. Lysosomal diseases and other storage diseases;Johnson,1995

4. Mendelian inheritance in man: a catalog of human genes and genetic disorders;McKusick,1994

5. Hexosaminidase-A (Hex A) deficiency in early adulthood: a new type of GM2 gangliosidosis (abstract);Kaback;Am. J. Hum. Genet.,1978

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1. Combination of single-nucleus and bulk RNA-seq reveals the molecular mechanism of thalamus haemorrhage-induced central poststroke pain;Frontiers in Immunology;2023-04-20

2. P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease;Metabolic Brain Disease;2022-10-03

3. Sandhoff disease: pathology and advanced treatment strategies;Drug Delivery Systems for Metabolic Disorders;2022

4. A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant;Brain and Development;2021-11

5. Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering;Neuromuscular Disorders;2021-08

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