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Juvenile Spinal Muscular Atrophy

Known as: Juvenile Muscular Atrophy, Spinal Muscular Atrophy, Type 3, Spinal Muscular Atrophy, Juvenile 
A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the… 
National Institutes of Health

Related topics

Related topics

12 relations

Broader (5)

Anterior Horn Cell DiseaseMyelopathic Muscular AtrophyProgressive Muscular AtrophySpinal Muscular Atrophies of Childhood
Autosomal recessive inheritanceConnective and Soft TissueHMN (Hereditary Motor Neuropathy) Proximal Type IMuscle Cramp

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
1998
Highly Cited
1998
Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy
Childhood-onset autosomal recessive spinal muscular atrophy (SMA) is associated with absence of the telomeric survival motor… 
Highly Cited
1997
Highly Cited
1997
The associations of optic disc hemorrhage with retinal nerve fiber layer defect and peripapillary atrophy in normal-tension glaucoma.
Review
1997
Review
1997
The CAG/Polyglutamine Tract Diseases: Gene Products and Molecular Pathogenesis
In the past few years, a new type of genetic mutation, expansion of trinucleotide repeats, has been shown to cause neurologic… 
Highly Cited
1993
Highly Cited
1993
Regional cerebral blood flow-SPECT in chronic alcoholism: relation to neuropsychological testing.
To determine the prevalence of central nervous system damage due to ethanol, we evaluated 40 asymptomatic chronic alcoholics and… 
Highly Cited
1993
Highly Cited
1993
Operative strategy in patients with MRI-identified dual pathology and temporal lobe epilepsy
Highly Cited
1982
Highly Cited
1982
The perception of motor commands or effort during muscular paralysis.
  • S. Gandevia
  • Brain : a journal of neurology
  • 1982
  • Corpus ID: 25630094
An observation by Mach (1906) on the sense of effort during hemiplegia has been confirmed. Two patients, who became suddenly… 
Highly Cited
1979
Highly Cited
1979
Tegmentoreticular projections with special reference to the muscular atonia during paradoxical sleep in the cat: An HRP study
Highly Cited
1979
Highly Cited
1979
AXONAL ATROPHY FROM PERMANENT PERIPHERAL AXOTOMY IN ADULT CAT
The peripheral axons of lower motor and spinal ganglion neurons were permanently transected and not allowed to regrow to target… 
Review
1976
Review
1976
Neuropathological aspects of dementias resulting from abnormal blood and cerebrospinal fluid dynamics.
In a large autopsy series of elderly individuals, organic dementia was attributed to (pre-) senile atrophy in 52.8%, to… 
Highly Cited
1951
Highly Cited
1951
Action of adrenal cortical steroids and nor-epinephrine on vascular responses of stress in adrenalectomized rats.
I N RECENTLY published work from this laboratory (I), it was demonstrated that muscular fatigue in the adrenalectomized animal… 
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