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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

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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
2007
Highly Cited
2007
3D maps from multiple MRI illustrate changing atrophy patterns as subjects progress from mild cognitive impairment to Alzheimer's disease.
Mild cognitive impairment (MCI), particularly the amnestic subtype (aMCI), is considered as a transitional stage between normal… 
Highly Cited
2005
Highly Cited
2005
SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder in humans which results in the loss of motor neurons. It is… 
Highly Cited
2004
Highly Cited
2004
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.
Motor neuron diseases (MNDs) are a group of neurodegenerative disorders with involvement of upper and/or lower motor neurons… 
Highly Cited
2002
Highly Cited
2002
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans, caused by homozygous absence of the survival… 
Highly Cited
2000
Highly Cited
2000
Cervical dural sac and spinal cord in juvenile muscular atrophy of distal upper extremity
Objective: To investigate specificity and significance of dynamic changes of the cervical dural sac and spinal cord during neck… 
Highly Cited
1996
Highly Cited
1996
Presymptomatic hippocampal atrophy in Alzheimer's disease. A longitudinal MRI study.
The hippocampal formation (HF) is known from pathological and MRI studies to be severely atrophied in established Alzheimer's… 
Highly Cited
1991
Highly Cited
1991
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
X-LINKED spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be… 
Highly Cited
1990
Highly Cited
1990
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3
SPINAL muscular atrophy (SMA) describes a group of heritable degenerative diseases that selectively affect the α-motor neuron… 
Highly Cited
1988
Highly Cited
1988
Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide
Duchenne muscular dystrophy (DMD) is a debilitating X-linked muscle disease. We have used sequence information from complementary… 
Highly Cited
1956
Highly Cited
1956
Heredofamilial juvenile muscular atrophy simulating muscular dystrophy.
Since 1945 we have personally examined 12 patients with a juvenile type of hereditary muscular atrophy, all of whom had earlier… 
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