(Q24200377)

4

Leonard H van den Berg

0 references

Alexander F J E Vrancken

7

Alexander FJE Vrancken

0 references

Susan T. Iannaccone

6

Susan T Iannaccone

0 references

John H. J. Wokke

5

John HJ Wokke

0 references

author name string

Renske I Wadman

1

0 references

Wendy MJ Bosboom

2

0 references

W Ludo van der Pol

Cochrane Database of Systematic Reviews

3

0 references

publication date

18 April 2012

0 references

published in

0 references

cites work

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Phase II open label study of valproic acid in spinal muscular atrophy

21 January 2018

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The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion for.

21 January 2018

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134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.

21 January 2018

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Ciliary neurotrophic factor (CNTF) for amyotrophic lateral sclerosis or motor neuron disease

21 January 2018

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Constitutive muscular abnormalities in culture in spinal muscular atrophy.

21 January 2018

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Riluzole. A review of its pharmacodynamic and pharmacokinetic properties and therapeutic potential in amyotrophic lateral sclerosis

21 January 2018

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

21 January 2018

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Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

21 January 2018

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Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy

21 January 2018

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Survival in SMA type I: a prospective analysis of 34 consecutive cases

21 January 2018

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The neurobiology of childhood spinal muscular atrophy.

21 January 2018

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Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy

21 January 2018

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Chaos in the classification of SMA: a possible resolution.

21 January 2018

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Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

21 January 2018

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Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

21 January 2018

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Spinal muscular atrophy: molecular pathophysiology

21 January 2018

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Possible strategies for treatment of SMA patients: a neurobiologist's view

21 January 2018

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Riluzole attenuates spinal muscular atrophy disease progression in a mouse model.

21 January 2018

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Reliability of 4 outcome measures in pediatric spinal muscular atrophy.

21 January 2018

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The role of SMN in spinal muscular atrophy.

21 January 2018

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Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

21 January 2018

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Muscle strength and motor function in children and adolescents with spinal muscular atrophy II and III.

21 January 2018

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Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

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Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

21 January 2018

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21 January 2018

Spinal muscular atrophy.

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Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

21 January 2018

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90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

21 January 2018

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Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study

21 January 2018

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Clinical trials of riluzole in patients with ALS. ALS/Riluzole Study Group-II.

21 January 2018

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A placebo-controlled trial of recombinant human ciliary neurotrophic (rhCNTF) factor in amyotrophic lateral sclerosis. rhCNTF ALS Study Group

21 January 2018

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A placebo-controlled trial of gabapentin in spinal muscular atrophy

21 January 2018

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Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND)

21 January 2018

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Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy

21 January 2018

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Spinal muscular atrophy: recent advances and future prospects.

21 January 2018

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Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

21 January 2018

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The changing natural history of spinal muscular atrophy type 1

21 January 2018

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Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophy

21 January 2018

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Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

21 January 2018

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A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

21 January 2018

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A natural history study of late onset spinal muscular atrophy types 3b and 4.

21 January 2018

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An analysis of extended survival in patients with amyotrophic lateral sclerosis treated with riluzole

21 January 2018

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

21 January 2018

1 reference

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The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion against

21 January 2018

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https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

Molecular mechanisms of spinal muscular atrophy

21 January 2018

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Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

21 January 2018

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Efficacy of thyrotropin-releasing hormone in the treatment of spinal muscular atrophy

21 January 2018

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

21 January 2018

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Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.

21 January 2018

1 reference

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An outcome study of riluzole in amyotrophic lateral sclerosis--a population-based study in Ireland, 1996-2000.

21 January 2018

1 reference

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Consensus Statement for Standard of Care in Spinal Muscular Atrophy

21 January 2018

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Spinal muscular atrophy: from gene to therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

21 January 2018

1 reference

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21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

A Randomized, Placebo-Controlled Trial of Creatine in Children With Spinal Muscular Atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

Drug treatment for spinal muscular atrophy type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

Drug treatment for spinal muscular atrophy type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

21 January 2018

1 reference

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In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

Spinal muscular atrophy and therapeutic prospects

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

Prospective study of spinal muscular atrophy before age 6 years. DCN/SMA Group

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

Dose-ranging study of riluzole in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis/Riluzole Study Group II

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

Spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

Spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

Spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

A controlled trial of riluzole in amyotrophic lateral sclerosis. ALS/Riluzole Study Group

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

The role of the SMN gene in proximal spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

A double-blind placebo-controlled clinical trial of subcutaneous recombinant human ciliary neurotrophic factor (rHCNTF) in amyotrophic lateral sclerosis. ALS CNTF Treatment Study Group

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

Function changes in spinal muscular atrophy II and III. The DCN/SMA Group

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

1 reference

https://api.crossref.org/works/10.1002%2F14651858.CD006281.PUB4

7 January 2021