Neurogenic and myogenic contributions to hereditary motor neuron disease (Q36013982)

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scientific article

Language	Label	Description	Also known as
English	Neurogenic and myogenic contributions to hereditary motor neuron disease	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Neurogenic and myogenic contributions to hereditary motor neuron disease (English)

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

author name string

Katherine V Bricceno

1

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Kenneth H Fischbeck

2

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Barrington G Burnett

3

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

publication date

9 February 2012

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Neurodegenerative Diseases

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

9

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

199-209

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Impaired motoneuronal retrograde transport in two models of SBMA implicates two sites of androgen action

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Increased IGF-1 in muscle modulates the phenotype of severe SMA mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Absence of disturbed axonal transport in spinal and bulbar muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

The COPI vesicle complex binds and moves with survival motor neuron within axons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Myofibrillar myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Deficits in axonal transport precede ALS symptoms in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Native Functions of the Androgen Receptor Are Essential to Pathogenesis in a Drosophila Model of Spinobulbar Muscular Atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Cardiac defects contribute to the pathology of spinal muscular atrophy models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

SMN, Gemin2 and Gemin3 associate with beta-actin mRNA in the cytoplasm of neuronal cells in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Skeletal muscle-restricted expression of human SOD1 causes motor neuron degeneration in transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Clinical features of spinal and bulbar muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Muscle mitochondrial uncoupling dismantles neuromuscular junction and triggers distal degeneration of motor neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Soluble polyglutamine oligomers formed prior to inclusion body formation are cytotoxic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

The spinal muscular atrophy gene product regulates neurite outgrowth: importance of the C terminus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

The neuroprotective effects of a locally acting IGF-1 isoform.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

JNK mediates pathogenic effects of polyglutamine-expanded androgen receptor on fast axonal transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Pathogenesis, animal models and therapeutics in spinal and bulbar muscular atrophy (SBMA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Plastins: versatile modulators of actin organization in (patho)physiological cellular processes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Muscle expression of a local Igf-1 isoform protects motor neurons in an ALS mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

The role of profilin complexes in cell motility and other cellular processes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

The polyglutamine tract of androgen receptor: from functions to dysfunctions in motor neurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

RhoA/ROCK regulation of neuritogenesis via profilin IIa-mediated control of actin stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Androgen receptor with elongated polyglutamine tract forms aggregates that alter axonal trafficking and mitochondrial distribution in motor neuronal processes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Striated muscle cytoarchitecture: an intricate web of form and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

The SMN complex, an assemblyosome of ribonucleoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Mediation of IGF-1-induced skeletal myotube hypertrophy by PI(3)K/Akt/mTOR and PI(3)K/Akt/GSK3 pathways.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Microtubule motors, phosphorylation and axonal transport of neurofilaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Regulation of myostatin activity and muscle growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Localized Igf-1 transgene expression sustains hypertrophy and regeneration in senescent skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

CREB-binding protein sequestration by expanded polyglutamine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Rho GTPases and the actin cytoskeleton

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Calcium sensitization of smooth muscle mediated by a Rho-associated protein kinase in hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Correlation between severity and SMN protein level in spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

beta-Actin messenger RNA localization and protein synthesis augment cell motility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

X-linked recessive bulbospinal neuronopathy: a report of ten cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

11 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

11 July 2018

Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

11 July 2018

Muscle could be the therapeutic target in SMA treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3369264

11 July 2018

The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability.

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

Disruption of Axonal Transport by Loss of Huntingtin or Expression of Pathogenic PolyQ Proteins in Drosophila

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells.

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients.

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

Muscle atrophy induced by SOD1G93A expression does not involve the activation of caspase in the absence of denervation

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy

1 reference

https://api.crossref.org/works/10.1159%2F000335311

21 January 2018

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

1 reference

https://pubmed.ncbi.nlm.nih.gov/22327341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modulating skeletal muscle mass by postnatal, muscle-specific inactivation of the myostatin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/22327341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked recessive bulbospinal neuronopathy. A clinicopathological study

1 reference

https://pubmed.ncbi.nlm.nih.gov/22327341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/22327341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families

1 reference

https://pubmed.ncbi.nlm.nih.gov/22327341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Involvement of the peripheral nerves in oculopharyngeal muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22327341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family

1 reference

https://pubmed.ncbi.nlm.nih.gov/22327341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22327341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The survival motor neuron protein of Schizosacharomyces pombe. Conservation of survival motor neuron interaction domains in divergent organisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/22327341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems

1 reference

https://pubmed.ncbi.nlm.nih.gov/22327341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"Myopathic" Changes in Chronically Denervated Muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/22327341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1159/000335311

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

ResearchGate publication ID

0 references

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