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5q13
A chromosome band present on 5q
National Institutes of Health
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Related topics
Related topics
6 relations
Chromosomes
F2R wt Allele
POLK wt Allele
RAD17 wt Allele
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2000
Review
2000
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
B. Wirth
Human Mutation
2000
Corpus ID: 21805848
Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the spinal cord, causing progressive weakness…
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Highly Cited
1998
Highly Cited
1998
SMN oligomerization defect correlates with spinal muscular atrophy severity
C. Lorson
,
J. Strasswimmer
,
+6 authors
E. Androphy
Nature Genetics
1998
Corpus ID: 5729465
Spinal muscular atrophy (SMA) is a motor-neuron disorder resulting from anterior-horn–cell death. The autosomal recessive form…
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Highly Cited
1997
Highly Cited
1997
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos.
B. Schrank
,
R. Götz
,
+4 authors
M. Sendtner
Proceedings of the National Academy of Sciences…
1997
Corpus ID: 2938491
Proximal spinal muscular atrophy is an autosomal recessive human disease of spinal motor neurons leading to muscular weakness…
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Highly Cited
1996
Highly Cited
1996
A novel nuclear structure containing the survival of motor neurons protein.
Q. Liu
,
G. Dreyfuss
EMBO Journal
1996
Corpus ID: 27606457
Spinal muscular atrophy (SMA) is a common, often fatal, autosomal recessive disease leading to progressive muscle wasting and…
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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
Highly Cited
1995
Highly Cited
1995
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.
E. Hahnen
,
R. Forkert
,
+4 authors
B. Wirth
Human Molecular Genetics
1995
Corpus ID: 26299765
Proximal spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of…
Expand
Highly Cited
1995
Highly Cited
1995
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.
N. Rodrigues
,
N. Owen
,
K. Talbot
,
J. Ignatius
,
V. Dubowitz
,
K. Davies
Human Molecular Genetics
1995
Corpus ID: 2043687
Autosomal recessive spinal muscular atrophy is a motor neuron disease which affects about 1 in 10,000 births. Recent evidence…
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Highly Cited
1994
Highly Cited
1994
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.
J. Melki
,
S. Lefebvre
,
+7 authors
D. Le Paslier
Science
1994
Corpus ID: 36171136
Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis…
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Review
1993
Review
1993
Cytogenetic deletion maps of hematologic neoplasms: Circumstantial evidence for tumor suppressor Loci
B. Johansson
,
F. Mertens
,
F. Mitelman
Genes, Chromosomes and Cancer
1993
Corpus ID: 23408469
Research in oncogenetics has led to the identification of two major classes of tumor‐associated genes, oncogenes and tumor…
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Highly Cited
1986
Highly Cited
1986
Chromosomes in kidney, ureter, and bladder cancer.
C. Berger
,
A. Sandberg
,
+4 authors
F. Hecht
Cancer Genetics and Cytogenetics
1986
Corpus ID: 31420091
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