(Q42283055)

19 October 2017

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy (English)

1 reference

19 October 2017

spinal muscular atrophy

1 reference

inferred from title

author

Thomas H. Gillingwater

11

1 reference

19 October 2017

7

Pascal Geldsetzer

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Kevin Talbot

object named as

Kevin Talbot

9

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Thomas M Wishart

object named as

Thomas M Wishart

1

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author name string

Jack P-W Huang

2

1 reference

19 October 2017

Lyndsay M Murray

3

1 reference

19 October 2017

Douglas J Lamont

4

1 reference

19 October 2017

Chantal A Mutsaers

5

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19 October 2017

Jenny Ross

6

1 reference

19 October 2017

Olaf Ansorge

8

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19 October 2017

Simon H Parson

10

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19 October 2017

12 August 2010

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19 October 2017

Human Molecular Genetics

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19 October 2017

19

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19 October 2017

21

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19 October 2017

4216-4228

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Review: neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy

19 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Pathogenesis of proximal autosomal recessive spinal muscular atrophy

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Diagnosis and clinical management of spinal muscular atrophy

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

26 October 2017

Spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

The minimum information about a proteomics experiment (MIAPE)

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Differential proteomics analysis of synaptic proteins identifies potential cellular targets and protein mediators of synaptic neuroprotection conferred by the slow Wallerian degeneration (Wlds) gene

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

SMN, the product of the spinal muscular atrophy-determining gene, is expressed widely but selectively in the developing human forebrain

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Increased hippocampal neurogenesis in Alzheimer's disease.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Adult neurogenesis produces a large pool of new granule cells in the dentate gyrus.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Neurogenesis in the adult human hippocampus

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Identification and characterization of a spinal muscular atrophy-determining gene

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

A study of cell death in Werdnig Hoffmann disease brain.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Is Werdnig-Hoffmann disease a pure lower motor neuron disorder?

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Brain atrophy in Werdnig-Hoffmann disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Loss of translation elongation factor (eEF1A2) expression in vivo differentiates between Wallerian degeneration and dying-back neuronal pathology

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Progressive and selective degeneration of motoneurons in a mouse model of SMA.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

Neuropathological analysis in spinal muscular atrophy type II.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951867

The Relationship between SMN, the Spinal Muscular Atrophy Protein, and Nuclear Coiled Bodies in Differentiated Tissues and Cultured Cells

17 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ340

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

21 January 2018

1 reference

12 December 2020

[Genetically confirmed spinal muscular atrophy type III with epilepsy, cerebral hypoperfusion, and parahippocampal gyrus atrophy]

1 reference

12 December 2020

Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy

1 reference

12 December 2020

A neuropathologic study of Werdnig-Hoffmann disease with special reference to the thalamus and posterior roots

1 reference

12 December 2020

Spinal muscular atrophy with oculomotor palsy, epilepsy, and cerebellar hypoperfusion

1 reference

12 December 2020

MR findings of Werdnig-Hoffmann disease in two infants

1 reference

12 December 2020

Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology

1 reference

12 December 2020

Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy

1 reference

12 December 2020

Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ340

1 reference

release_ihilo7v7hrbfrhtvb6adizm6je

19 October 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ihilo7v7hrbfrhtvb6adizm6je

24 November 2022

mapped directly with Wikidata item

1 reference

19 October 2017

1 reference