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Gangliosidoses, GM2
Known as:
GM2, Gangliosidoses
, Gangliosidose, GM2
, Gangliosidoses GM2
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A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes…
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National Institutes of Health
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Related topics
Related topics
10 relations
BETA-N-ACETYLHEXOSAMINIDASE
HEXA gene
In Blood
Microbiological
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Narrower (1)
Tay-Sachs Disease
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2001
Review
2001
Clinical implications of the genetics of ALS and other motor neuron diseases
R. Orrell
,
D. Figlewicz
Neurology
2001
Corpus ID: 8730594
Genetic mutations have been identified in the major motor neuron diseases, including ALS, spinal muscular atrophy, bulbospinal…
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Highly Cited
1998
Highly Cited
1998
Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice.
Francine Norflus
,
Cynthia J. Tifft
,
+7 authors
Richard L. Proia
Journal of Clinical Investigation
1998
Corpus ID: 1708084
The GM2 gangliosidoses are a group of severe, neurodegenerative conditions that include Tay-Sachs disease, Sandhoff disease, and…
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1995
1995
White matter changes associated with feline GM2 gangliosidosis (Sandhoff disease): correlation of MR findings with pathologic and ultrastructural abnormalities.
R. Kroll
,
M. Pagel
,
S. Roman-Goldstein
,
A. Barkovich
,
A. D'Agostino
,
E. Neuwelt
AJNR. American journal of neuroradiology
1995
Corpus ID: 23123418
PURPOSE To establish changes on MR of the brain in a feline model of Sandhoff disease in order to develop standards by which this…
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1993
1993
Brain imaging in late‐onset GM2 gangliosidosis
J. Streifler
,
M. Gornish
,
H. Hadar
,
N. Gadoth
Neurology
1993
Corpus ID: 26072362
We describe brain CT and MRI characteristics of 10 patients with late-onset GM2 gangliosidosis. Cerebellar atrophy, particularly…
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1992
1992
Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.
E. Landels
,
Peter M Green
,
Ian H Ellis
,
A. H. Fensom
,
Martin Bobrow
Journal of Medical Genetics
1992
Corpus ID: 5959842
In the course of defining mutations causing Tay-Sachs disease (TSD) in non-Jewish patients and carriers from the British Isles…
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Review
1991
Review
1991
The clinical aspects of adult hexosaminidase deficiencies.
Antonio Federico
,
S. Palmeri
,
A. Malandrini
,
G. Fabrizi
,
Mauro Mondelli
,
Gc Guazzi
Developmental Neuroscience
1991
Corpus ID: 3314050
The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently…
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Highly Cited
1985
Highly Cited
1985
Incorporation and metabolism of ganglioside GM2 in skin fibroblasts from normal and GM2 gangliosidosis subjects.
S. Sonderfeld
,
E. Conzelmann
,
Gunter Schwarzmann
,
J. Burg
,
U. Hinrichs
,
K. Sandhoff
European Journal of Biochemistry
1985
Corpus ID: 6427133
Ganglioside GM2, 3H-labeled in the sphingoid base, was added to the culture medium of normal and GM2 gangliosidosis fibroblasts…
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Highly Cited
1984
Highly Cited
1984
Usefulness of 4‐methylumbelliferyl‐6‐ sulfo‐2‐acetamido‐2‐deoxy‐β‐D‐glucopyranoside for the diagnosis of GM2 gangliosidoses in leukocytes
K. Inui
,
D. Wenger
Clinical Genetics
1984
Corpus ID: 32596579
4‐Methylumbelliferyl‐6‐sulfo‐2‐acetamido‐2‐deoxy‐β‐D‐glucopyranoside was synthesized and tested as a substrate for the diagnosis…
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1984
1984
Neurophysiological Investigations in GM1 and GM2 Gangliosidoses
GM Neurophysiologicallnvestigationsin
,
Gangliosidoses G. Pampiglione
,
A. Harden
Neuropediatrics
1984
Corpus ID: 21282523
Neurophysiological studies (EEG, ERG, VEP and BAEP) have been carried out on a total of fifty-four patients (fourty-five GM2 and…
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1984
1984
Clinical course of GM2 gangliosidoses. A correlative attempt.
Schulte Fj
1984
Corpus ID: 203734372
: The clinical course of the early onset gangliosidoses can be explained on the basis of the developmental time course of…
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