Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy

Human Molecular Genetics ◽

10.1093/hmg/4.4.631 ◽

1995 ◽

Vol 4 (4) ◽

pp. 631-634 ◽

Author(s):

N.R. Rodrigues ◽

N. Owen ◽

K. Talbot ◽

J. Ignatius ◽

V. Dubowitz ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Autosomal Recessive ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Survival Motor Neuron Gene

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An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

Human Mutation ◽

10.1002/(sici)1098-1004(200003)15:3<228::aid-humu3>3.0.co;2-9 ◽

2000 ◽

Vol 15 (3) ◽

pp. 228-237 ◽

Author(s):

Brunhilde Wirth

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Autosomal Recessive ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Mutation Spectrum ◽

Survival Motor Neuron Gene

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Survival Motor-Neuron Gene Transcript Analysis in Muscles from Spinal Muscular-Atrophy Patients

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.1995.2135 ◽

1995 ◽

Vol 213 (1) ◽

pp. 342-348 ◽

Author(s):

M. Gennarelli ◽

M. Lucarelli ◽

F. Capon ◽

A. Pizzuti ◽

L. Merlini ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Gene Transcript ◽

Transcript Analysis ◽

Survival Motor Neuron Gene

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Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Journal of Clinical Investigation ◽

10.1172/jci118895 ◽

1996 ◽

Vol 98 (5) ◽

pp. 1130-1132 ◽

Author(s):

L Bürglen ◽

J Amiel ◽

L Viollet ◽

S Lefebvre ◽

P Burlet ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Gene Deletion ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Arthrogryposis Multiplex Congenita ◽

Survival Motor Neuron Gene

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The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy

Medicine ◽

10.1097/md.0000000000018809 ◽

2020 ◽

Vol 99 (3) ◽

pp. e18809 ◽

Author(s):

Yinhong Zhang ◽

Jing He ◽

Yunqian Zhang ◽

Li Li ◽

Xinhua Tang ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Neuronal Apoptosis ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Inhibitory Protein ◽

Survival Motor Neuron Gene ◽

Clinical Phenotypes ◽

Copy Numbers ◽

Neuronal Apoptosis Inhibitory Protein

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Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA)

Human Molecular Genetics ◽

10.1093/hmg/6.5.821 ◽

1997 ◽

Vol 6 (5) ◽

pp. 821-825 ◽

Author(s):

E. Hahnen ◽

J. Schonling ◽

S. Rudnik-Schoneborn ◽

H. Raschke ◽

K. Zerres ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Missense Mutations ◽

Survival Motor Neuron Gene

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Faculty Opinions recommendation of The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718868343.793502430 ◽

2014 ◽

Author(s):

Chris Henderson

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Muscular Atrophy ◽

Embryonic Lethality ◽

Survival Motor Neuron ◽

Survival Motor Neuron Gene

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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy

Human Molecular Genetics ◽

10.1093/hmg/9.3.333 ◽

2000 ◽

Vol 9 (3) ◽

pp. 333-339 ◽

Author(s):

U. R. Monani

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Muscular Atrophy ◽

Embryonic Lethality ◽

Survival Motor Neuron ◽

Survival Motor Neuron Gene

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Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition

Human Molecular Genetics ◽

10.1093/hmg/ddn357 ◽

2008 ◽

Vol 18 (2) ◽

pp. 304-317 ◽

Author(s):

Jan Hauke ◽

Markus Riessland ◽

Sebastian Lunke ◽

Ilker Y. Eyüpoglu ◽

Ingmar Blümcke ◽

...

Keyword(s):

Dna Methylation ◽

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Histone Deacetylase ◽

Disease Severity ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Survival Motor Neuron Gene ◽

Histone Deacetylase Inhibition

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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn / mice and results in a mouse with spinal muscular atrophy

Human Molecular Genetics ◽

10.1093/hmg/ddm236 ◽

2007 ◽

Vol 16 (21) ◽

pp. 2648-2648

Author(s):

U. R. Monani ◽

M. Sendtner ◽

D. D. Coovert ◽

D. W. Parsons ◽

C. Andreassi ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Muscular Atrophy ◽

Embryonic Lethality ◽

Survival Motor Neuron ◽

Survival Motor Neuron Gene

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Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.94.18.9920 ◽

1997 ◽

Vol 94 (18) ◽

pp. 9920-9925 ◽

Author(s):

B. Schrank ◽

R. Gotz ◽

J. M. Gunnersen ◽

J. M. Ure ◽

K. V. Toyka ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Muscular Atrophy ◽

Mouse Embryos ◽

Survival Motor Neuron ◽

Survival Motor Neuron Gene ◽

Massive Cell Death ◽

Early Mouse ◽

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