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Juvenile Spinal Muscular Atrophy
Known as:
Juvenile Muscular Atrophy
, Spinal Muscular Atrophy, Type 3
, Spinal Muscular Atrophy, Juvenile
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A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the…
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National Institutes of Health
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Related topics
Related topics
12 relations
Broader (5)
Anterior Horn Cell Disease
Myelopathic Muscular Atrophy
Progressive Muscular Atrophy
Spinal Muscular Atrophies of Childhood
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Autosomal recessive inheritance
Connective and Soft Tissue
HMN (Hereditary Motor Neuropathy) Proximal Type I
Muscle Cramp
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2017
Highly Cited
2017
Single‐Dose Gene‐Replacement Therapy for Spinal Muscular Atrophy
J. Mendell
,
S. Al-Zaidy
,
+23 authors
B. Kaspar
New England Journal of Medicine
2017
Corpus ID: 5289105
Background Spinal muscular atrophy type 1 (SMA1) is a progressive, monogenic motor neuron disease with an onset during infancy…
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Highly Cited
2017
Highly Cited
2017
Nusinersen versus Sham Control in Infantile‐Onset Spinal Muscular Atrophy
R. Finkel
,
E. Mercuri
,
+395 authors
Y. Zeng
New England Journal of Medicine
2017
Corpus ID: 4771819
Background Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of…
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Review
2005
Review
2005
Mild to Moderate Muscular Symptoms with High-Dosage Statin Therapy in Hyperlipidemic Patients —The PRIMO Study
E. Bruckert
,
G. Hayem
,
S. Dejager
,
C. Yau
,
B. Bégaud
Cardiovascular Drugs and Therapy
2005
Corpus ID: 24525127
SummaryObjectives: To characterize the risk factors, rate of occurrence, onset, nature and impact of mild to moderate muscular…
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Review
2000
Review
2000
Glucocorticoids and hippocampal atrophy in neuropsychiatric disorders.
R. Sapolsky
Archives of General Psychiatry
2000
Corpus ID: 7727534
An extensive literature stretching back decades has shown that prolonged stress or prolonged exposure to glucocorticoids-the…
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Highly Cited
1999
Highly Cited
1999
Prediction of AD with MRI-based hippocampal volume in mild cognitive impairment
C. Jack
,
R. C. Petersen
,
+7 authors
E. Kokmen
Neurology
1999
Corpus ID: 21194292
Objective: To test the hypothesis that MRI-based measurements of hippocampal volume are related to the risk of future conversion…
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Highly Cited
1998
Highly Cited
1998
Cortisol levels during human aging predict hippocampal atrophy and memory deficits
S. Lupien
,
M. Leon
,
+7 authors
M. Meaney
Nature Neuroscience
1998
Corpus ID: 14685743
Elevated glucocorticoid levels produce hippocampal dysfunction and correlate with individual deficits in spatial learning in aged…
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Highly Cited
1996
Highly Cited
1996
Hippocampal atrophy in recurrent major depression.
Y. Sheline
,
Po W. Wang
,
Pow . Wang
,
M. Gado
,
J. Csernansky
,
M. Vannier
Proceedings of the National Academy of Sciences…
1996
Corpus ID: 12178171
Hippocampal volumes of subjects with a history of major depressive episodes but currently in remission and with no known medical…
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Highly Cited
1991
Highly Cited
1991
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
Akhilesh Pandey
,
TU Agc
,
F. Crick
,
La Spada
Nature
1991
Corpus ID: 1678351
X-LINKED spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be…
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Highly Cited
1969
Highly Cited
1969
Pan-Cultural Elements in Facial Displays of Emotion
P. Ekman
,
E. Sorenson
,
Wallace V. Friesen
Science
1969
Corpus ID: 16462814
Observers in both literate and preliterate cultures chose the predicted emotion for photographs of the face, although agreement…
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Highly Cited
1968
Highly Cited
1968
Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait.
W. Kennedy
,
M. Alter
,
J. Sung
Neurology
1968
Corpus ID: 45735233
Neurology 1968;18:671-680 Progressive spinal muscular atrophy, juvenile proximal spinal muscular atrophy (Kugelberg-Welander…
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