GM2 Gangliosidosis with a Motor Neuron Disease Phenotype: Clinical Heterogeneity of Hexosaminidase Deficiency Disease

1987 ◽  
pp. 19-23 ◽  
Author(s):  
A. Federico
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Clinical Heterogeneity ◽  
Disease Phenotype ◽  
Deficiency Disease ◽  
Gm2 Gangliosidosis

scholarly journals Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype

2012 ◽  
Vol 153 (1) ◽  
pp. 111-119 ◽  
Author(s):  
Kenichiro Yamada ◽  
Yuhei Takado ◽  
Yusuke S. Kato ◽  
Yasukazu Yamada ◽  
Hideaki Ishiguro ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Sandhoff Disease ◽  
Β Subunit ◽  
Disease Phenotype ◽  
Dimer Formation ◽  
Adult Form

Muscle Computed Tomography Features of Motor Neuron Disease in Late-Onset GM2 Gangliosidosis

1995 ◽  
Vol 5 (1) ◽  
pp. 4-8 ◽  
Author(s):  
Jonathan Y. Streifler ◽  
Herzlia Hadar ◽  
Natan Gadoth
Keyword(s):  
Computed Tomography ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Late Onset ◽  
Gm2 Gangliosidosis

GM2 gangliosidosis with hexosaminidase A and B defect: Report of a family with motor neuron disease-like phenotype

1986 ◽  
Vol 9 (S2) ◽  
pp. 307-310 ◽  
Author(s):  
A. Federico ◽  
G. Ciacci ◽  
I. d'Amore ◽  
R. Pallini ◽  
S. Palmeri ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Gm2 Gangliosidosis ◽  
Hexosaminidase A

Clinical heterogeneity of familial motor neuron disease: Report of 11 pedigrees from a population based study in Scotland

1994 ◽  
Vol 124 ◽  
pp. 75-76 ◽  
Author(s):  
Andrew M. Chancellor ◽  
Hazel Fraser ◽  
Robert J. Swingler ◽  
Susan M. Holloway ◽  
Charles P. Warlow
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Population Based ◽  
Clinical Heterogeneity ◽  
Population Based Study
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