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Spastic Ataxia

National Institutes of Health

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6 relations

Broader (4)

Ataxia, SpinocerebellarIntellectual DisabilityMuscle SpasticityOptic Atrophy
Methylmalonic Aciduria and Homocystinuria, CblD TypeMousa Al din Al Nassar syndrome

Papers overview

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2018
2018
[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].
OBJECTIVE To detect potential mutations of the spastic ataxia of Charlevoix-Saguenay (SACS) gene in a pedigree affected with… 
2010
2010
PSEUDODOMINANT INHERITANCE OF SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY
Spastic ataxia of Charlevoix-Saguenay (ARSACS, MIM 270550) is an early-onset neurodegenerative disease characterized by mild to… 
2009
2009
A Novel SACS Gene Mutation in a Tunisian Family
Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia… 
2008
2008
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia
2007
2007
An unusual case of a spasticity-lacking phenotype with a novel SACS mutation
1998
1998
Friedreich's ataxia presenting as adult-onset spastic paraparesis
ABSTRACTWe have studied a man with an atypical form of Friedreich's ataxia (FRDA), who presented at age 26 years with a 2-year… 
1995
1995
Selective promotion by phenylmethanesulfonyl fluoride of peripheral and spinal cord neuropathies initiated by diisopropyl phosphorofluoridate in the hen.
1989
1989
In vivo and in vitro regional differential sensitivity of neuropathy target esterase to Di-n-butyl-2,2-dichlorovinyl phosphate
Organophosphate-induced delayed polyneuropathy (OPIDP) is initiated by inhibition/aging of more than 70–75% of neuropathy target… 
1983
1983
Visual evoked potentials in spinocerebellar degenerations
Review
1977
Review
1977
Familial spastic ataxia
The childhood form of familial spastic ataxia differs in many aspects from the disease of adult onset but as yet has received… 
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