(Q75190358)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14683633%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

review article

1 reference

title

Spinal muscular atrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14683633%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

main subject

spinal muscular atrophy

1 reference

1 reference

1

Susan T Iannaccone

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14683633%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

author name string

Stephen A Smith

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14683633%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

Louise R Simard

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14683633%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

publication date

1 January 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14683633%20AND%20SRC:MED&resulttype=core&format=json

Current Neurology and Neuroscience Reports

16 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14683633%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14683633%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14683633%20AND%20SRC:MED&resulttype=core&format=json

16 November 2019

page(s)

74-80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14683633%20AND%20SRC:MED&resulttype=core&format=json

Preliminary observations on the reliability of the DCN-SMA Study Group methodology. Dallas-Cincinnati-Newington Spinal Muscular Atrophy (DCN-SMA) Study Group.

16 November 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Reliability of 4 outcome measures in pediatric spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Short-chain fatty acid derivatives induce fetal globin expression and erythropoiesis in vivo

1 reference

12 December 2020

Pulmonary function in spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Involvement of reactive oxygen species in aclarubicin-induced differentiation and invasiveness of HL-60 leukemia cells.

1 reference

12 December 2020

Upright mobility system for spinal muscular atrophy patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Intermittent abdominal pressure ventilator in a regimen of noninvasive ventilatory support

1 reference

12 December 2020

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

1 reference

12 December 2020

A placebo-controlled trial of gabapentin in spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Induction of gamma-globin by histone deacetylase inhibitors

1 reference

12 December 2020

1 reference

12 December 2020

A mouse model for spinal muscular atrophy

1 reference

12 December 2020

Neuropsychological performance of children with Duchenne muscular dystrophy and spinal muscle atrophy.

1 reference

12 December 2020

Survival of individuals with spinal muscular atrophy on ventilatory support

1 reference

12 December 2020

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

1 reference

12 December 2020

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

1 reference

12 December 2020

Infantile muscular atrophy

1 reference

12 December 2020

Creatine monohydrate increases strength in patients with neuromuscular disease.

1 reference

12 December 2020

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component

1 reference

12 December 2020

Pilot trial of albuterol in spinal muscular atrophy

1 reference

12 December 2020

Management of chronic alveolar hypoventilation by nasal ventilation

1 reference

12 December 2020

Neuroprotective strategies in a model of chronic glutamate-mediated motor neuron toxicity

1 reference

12 December 2020

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

1 reference

12 December 2020

Complete nucleotide sequence, genomic organization, and promoter analysis of the murine survival motor neuron gene (Smn).

1 reference

12 December 2020

Long-term follow-up of spinal fusion in spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Motor unit number estimation in infants and children with spinal muscular atrophy

1 reference

12 December 2020

Correlation between severity and SMN protein level in spinal muscular atrophy

1 reference

12 December 2020

Spinal muscular atrophy: present state

1 reference

12 December 2020

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

1 reference

12 December 2020

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

1 reference

12 December 2020

When Is a Deletion Not a Deletion? When It Is Converted

1 reference

12 December 2020

Chaos in the classification of SMA: a possible resolution.

1 reference

12 December 2020

Identification of survival motor neuron as a transcriptional activator-binding protein.

1 reference

12 December 2020

Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype

1 reference

12 December 2020

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

1 reference

12 December 2020

Outcome measures for pediatric spinal muscular atrophy

1 reference

12 December 2020

Spinal surgery in spinal muscular atrophy.

1 reference

12 December 2020

Creatine monohydrate in muscular dystrophies: A double-blind, placebo-controlled clinical study

1 reference

12 December 2020

Animal models of spinal muscular atrophy

1 reference

12 December 2020

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

1 reference

12 December 2020

Differential SMN2 expression associated with SMA severity

1 reference

12 December 2020

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

1 reference

12 December 2020

Treatment of spinal muscular atrophy by sodium butyrate

1 reference

12 December 2020

The survival motor neuron protein in spinal muscular atrophy

1 reference

12 December 2020

Validity of the Test of Infant Motor Performance for prediction of 6-, 9- and 12-month scores on the Alberta Infant Motor Scale.

1 reference

12 December 2020

The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

1 reference

12 December 2020

Prospective analysis of strength in spinal muscular atrophy. DCN/Spinal Muscular Atrophy Group

1 reference

12 December 2020

Spinal muscular atrophy: recent advances and future prospects.

1 reference

12 December 2020

Stability of a PKCI-1-related mRNA is controlled by the splicing factor ASF/SF2: a novel function for SR proteins

1 reference

12 December 2020

Muscle Fatigue in Spinal Muscular Atrophy

1 reference

12 December 2020

Update and perspective on noninvasive respiratory muscle aids. Part 2: The expiratory aids

1 reference

12 December 2020

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

1 reference

12 December 2020

A Phase 1 Trial of Riluzole in Spinal Muscular Atrophy

1 reference

12 December 2020

Spine fusion in patients with spinal muscular atrophy

1 reference

12 December 2020

SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

1 reference

12 December 2020

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

1 reference

12 December 2020

Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues

1 reference

12 December 2020

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

1 reference

12 December 2020