Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype

1989 ◽  
Vol 10 (4) ◽  
pp. 433-439 ◽  
Author(s):  
M. Mondelli ◽  
A. Rossi ◽  
S. Palmeri ◽  
N. Rizzuto ◽  
A. Federico
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Disease Phenotype ◽  
Gm2 Gangliosidosis ◽  
Neurophysiological Study ◽  
Hexosaminidase A

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

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

Motor neuron disease and adult hexosaminidase a deficiency in two families: Evidence for multisystem degeneration

1985 ◽  
Vol 17 (4) ◽  
pp. 378-385 ◽  
Author(s):  
Hiroshi Mitsumoto ◽  
Robert J. Sliman ◽  
Irwin A. Schafer ◽  
Cary S. Sternick ◽  
Benjamin Kaufman ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Multisystem Degeneration ◽  
Hexosaminidase A
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