Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 217,276,369 papers from all fields of science
Search
Sign In
Create Free Account
Spinal Muscular Atrophy
Known as:
Spinal Amyotrophies
, atrophy spinal muscular
, Spinal Amyotrophy
Expand
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually…
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
47 relations
Broader (3)
Anterior Horn Cell Disease
General Paralysis
Motor Neuron Disease
Narrower (26)
Bulbospinal Neuronopathy
Camptocormia
Distal Hereditary Motor Neuropathy, Type II
Distal Spinal Muscular Atrophy
Expand
Congenital neurologic anomalies
Connective and Soft Tissue
HMN (Hereditary Motor Neuropathy) Proximal Type I
In Blood
Expand
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
Spinal Muscular Atrophy
Thomas W. Prior
,
E. Finanger
2016
Corpus ID: 2016673
Highly Cited
2009
Highly Cited
2009
Induced pluripotent stem cells from a spinal muscular atrophy patient
A. Ebert
,
Junying Yu
,
+4 authors
C. Svendsen
Nature
2009
Corpus ID: 4399268
Spinal muscular atrophy is one of the most common inherited forms of neurological disease leading to infant mortality. Patients…
Expand
Highly Cited
2003
Highly Cited
2003
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
A. Antonellis
,
R. Ellsworth
,
+14 authors
E. Green
American Journal of Human Genetics
2003
Corpus ID: 32344353
Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies…
Expand
Highly Cited
2002
Highly Cited
2002
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
L. Cartegni
,
A. Krainer
Nature Genetics
2002
Corpus ID: 30445633
Alteration of correct splicing patterns by disruption of an exonic splicing enhancer may be a frequent mechanism by which point…
Expand
Highly Cited
2000
Highly Cited
2000
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
U. Monani
,
M. Sendtner
,
+9 authors
A. Burghes
Human Molecular Genetics
2000
Corpus ID: 2505409
Proximal spinal muscular atrophy (SMA) is a common motor neuron disease in humans and in its most severe form causes death by the…
Expand
Highly Cited
1999
Highly Cited
1999
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
C. Lorson
,
E. Hahnen
,
E. Androphy
,
B. Wirth
Proceedings of the National Academy of Sciences…
1999
Corpus ID: 19740244
SMN1 and SMN2 (survival motor neuron) encode identical proteins. A critical question is why only the homozygous loss of SMN1, and…
Expand
Highly Cited
1995
Highly Cited
1995
Identification and characterization of a spinal muscular atrophy-determining gene
S. Lefebvre
,
L. Bürglen
,
+13 authors
J. Melki
Cell
1995
Corpus ID: 14291056
Review
1990
Review
1990
Basal ganglia-thalamocortical circuits: parallel substrates for motor, oculomotor, "prefrontal" and "limbic" functions.
G. E. Alexander
,
M. D. Crutcher
,
M. DeLong
Progress in Brain Research
1990
Corpus ID: 12648971
Highly Cited
1974
Highly Cited
1974
Enzymatic determination of total serum cholesterol.
C. C. Allain
,
L. Poon
,
C. Chan
,
W. Richmond
,
P. Fu
Clinical Chemistry
1974
Corpus ID: 14138436
An enzymatic method is described for determination of total serum cholesterol by use of a single aqueous reagent. The method…
Expand
Highly Cited
1936
Highly Cited
1936
A Syndrome produced by Diverse Nocuous Agents
H. Selye
Nature
1936
Corpus ID: 4014154
EXPERIMENTS on rats show that if the organism is severely damaged by acute non-specific nocuous agents such as exposure to cold…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE