(Q36924707)

17 August 2017

1 reference

title

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

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17 August 2017

main subject

spinal muscular atrophy

1 reference

1 reference

Barry S Russman

1

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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

volume

22

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17 August 2017

issue

8

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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

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

Neurogenic muscular atrophy of infancy with prolonged survival. The variable course of Werdnig-Hoffmann Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

Spinal muscular atrophy: the natural course of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

Chaos in the classification of SMA: a possible resolution.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

Peroneal muscular atrophy with pyramidal features

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

Molecular genetics of distal hereditary motor neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

Autosomal dominant distal spinal muscular atrophy: an Italian family not linked to 12q24 and 7p14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

A predominantly cervical form of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

Brain atrophy in Werdnig-Hoffmann disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

Spinal muscular atrophy variant with congenital fractures

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305673

21 January 2018

Identifiers

DOI

10.1177/0883073807305673

1 reference

release_6zidogwc5jckvh7ktxhxr6sujq

17 August 2017

Fatcat ID

1 reference

Fatcat

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

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference