Spinal muscular atrophy: clinical classification and disease heterogeneity (Q36924707)

17 August 2017

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title

Spinal muscular atrophy: clinical classification and disease heterogeneity (English)

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17 August 2017

main subject

spinal muscular atrophy

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Barry S Russman

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17 August 2017

publication date

1 August 2007

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Journal of Child Neurology

17 August 2017

published in

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17 August 2017

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17 August 2017

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17 August 2017

page(s)

946-951

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Identification and characterization of a spinal muscular atrophy-determining gene

17 August 2017

cites work

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INFANTILE MUSCULAR ATROPHY. A PROSPECTIVE STUDY WITH PARTICULAR REFERENCE TO A SLOWLY PROGRESSIVE VARIETY

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

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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

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Spinal muscular atrophy: the natural course of disease

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Spinal muscular atrophy: new thoughts on the pathogenesis and classification schema

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The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III.

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Chaos in the classification of SMA: a possible resolution.

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

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Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region

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Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

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The natural history of type I (severe) spinal muscular atrophy

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Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.

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Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature

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Peroneal muscular atrophy with pyramidal features

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21 January 2018

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A clinical and genetic study of spinal muscular atrophy of adult onset: the autosomal recessive form as a discrete disease entity

21 January 2018

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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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Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

21 January 2018

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A predominantly cervical form of spinal muscular atrophy

21 January 2018

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Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease

21 January 2018

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Brain atrophy in Werdnig-Hoffmann disease

21 January 2018

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Spinal muscular atrophy variant with congenital fractures

21 January 2018

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Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance

21 January 2018

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21 January 2018

Identifiers

DOI

10.1177/0883073807305673

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release_6zidogwc5jckvh7ktxhxr6sujq

17 August 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/6zidogwc5jckvh7ktxhxr6sujq

mapped directly with Wikidata item

24 November 2022

based on heuristic

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