(Q51688070)

9 April 2018

title

93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) - clinical picture (6-8 April 2001, Naarden, The Netherlands). (English)

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9 April 2018

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Klaus Zerres

1

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9 April 2018

Sabine Rudnik-Schöneborn

series ordinal

2

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9 April 2018

publication date

1 February 2003

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9 April 2018

published in

Neuromuscular Disorders

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9 April 2018

volume

13

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9 April 2018

issue

2

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9 April 2018

page(s)

179-183

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9 April 2018

59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands.

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A mouse model for spinal muscular atrophy

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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

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Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III

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Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy

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Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

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Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

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Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.

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Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q

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Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration

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Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?

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Autosomal dominant cramping disease

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Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

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Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

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Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24

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Identifiers

DOI

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9 April 2018

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9 April 2018