(Q37781985)

23 August 2017

title

The genetics of spinal muscular atrophies (English)

1 reference

23 August 2017

Lingling Kong

2

1 reference

23 August 2017

Claribel D. Wee

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20733483

21 June 2024

Charlotte J. Sumner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20733483

21 June 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20733483

21 June 2024

publication date

1 October 2010

1 reference

full work available at URL

23 August 2017

https://journals.lww.com/10.1097/WCO.0b013e32833e1765

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Current Opinion in Neurology

21 June 2024

published in

1 reference

23 August 2017

volume

23

1 reference

23 August 2017

issue

5

1 reference

23 August 2017

page(s)

450-458

1 reference

RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

23 August 2017

cites work

1 reference

12 January 2024

https://opencitations.net/index/api/v1/citations/10.1038/NBT.1610

Identification and characterization of a spinal muscular atrophy-determining gene

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1 reference

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Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

21 June 2024

2

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene

21 June 2024

3

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype

21 June 2024

4

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 June 2024

5

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

21 June 2024

6

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

21 June 2024

7

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

21 June 2024

8

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Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach

21 June 2024

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The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset

21 June 2024

10

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

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

21 June 2024

11

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

21 June 2024

12

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Mutant dynactin in motor neuron disease.

21 June 2024

13

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

21 June 2024

14

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

21 June 2024

15

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

21 June 2024

16

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

21 June 2024

17

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

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

21 June 2024

18

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Correlation between severity and SMN protein level in spinal muscular atrophy

21 June 2024

19

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

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 June 2024

20

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)

21 June 2024

21

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus

21 June 2024

22

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1

21 June 2024

23

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease

21 June 2024

24

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait

21 June 2024

25

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

21 June 2024

26

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

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

21 June 2024

27

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing

21 June 2024

28

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

21 June 2024

29

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Regulation of SMN protein stability

21 June 2024

30

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Molecular functions of the SMN complex

21 June 2024

31

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Splice-site pairing is an intrinsically high fidelity process.

21 June 2024

32

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

21 June 2024

33

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.

21 June 2024

34

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons

21 June 2024

35

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization.

21 June 2024

36

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal beta-actin mRNA translocation in spinal motor neurons

21 June 2024

37

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

21 June 2024

38

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

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

21 June 2024

39

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy.

21 June 2024

40

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Pathogenesis-targeting therapeutics for spinal and bulbar muscular atrophy (SBMA).

21 June 2024

41

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

CREB-binding protein sequestration by expanded polyglutamine

21 June 2024

42

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Reversible disruption of dynactin 1-mediated retrograde axonal transport in polyglutamine-induced motor neuron degeneration.

21 June 2024

43

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Small ubiquitin-like modifier (SUMO) modification of the androgen receptor attenuates polyglutamine-mediated aggregation

21 June 2024

44

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Heat shock protein 70 chaperone overexpression ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model by reducing nuclear-localized mutant androgen receptor protein

21 June 2024

45

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1

21 June 2024

46

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

21 June 2024

47

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

21 June 2024

48

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model

21 June 2024

49

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

21 June 2024

50

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin

21 June 2024

51

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation

21 June 2024

52

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

DCTN1 mutations in Perry syndrome

21 June 2024

53

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates.

21 June 2024

54

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

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

21 June 2024

55

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

21 June 2024

56

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice

21 June 2024

57

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice.

21 June 2024

58

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction

21 June 2024

59

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

21 June 2024

61

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy

21 June 2024

62

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition

21 June 2024

63

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

21 June 2024

64

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

21 June 2024

65

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy.

21 June 2024

66

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy

21 June 2024

67

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model.

21 June 2024

68

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice.

21 June 2024

69

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy

21 June 2024

70

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy

21 June 2024

71

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy

21 June 2024

72

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Modulation of Hsp90 function in neurodegenerative disorders: a molecular-targeted therapy against disease-causing protein

21 June 2024

73

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Inhibition of hsp70 by methylene blue affects signaling protein function and ubiquitination and modulates polyglutamine protein degradation

21 June 2024

74

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy

21 June 2024

75

1 reference

https://api.crossref.org/works/10.1097/WCO.0B013E32833E1765

21 June 2024

Identifiers

1 reference

23 August 2017

1 reference