Spinal and bulbar muscular atrophy: pathogenesis and clinical management (Q30612908)

16 October 2017

Spinal and bulbar muscular atrophy: pathogenesis and clinical management (English)

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16 October 2017

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C Grunseich

1

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16 October 2017

C Rinaldi

series ordinal

2

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16 October 2017

K H Fischbeck

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3

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16 October 2017

language of work or name

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9 May 2013

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16 October 2017

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16 October 2017

20

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16 October 2017

1

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16 October 2017

6-9

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Identifying polyglutamine protein species in situ that best predict neurodegeneration

16 October 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

Clinical features of spinal and bulbar muscular atrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

Standard and modified statistical MUNE evaluations in spinal-bulbar muscular atrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

Mitochondrial abnormalities in spinal and bulbar muscular atrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

CREB-binding protein sequestration by expanded polyglutamine

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

Glutamine repeats and neurodegeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4284073

Diseases of unstable repeat expansion: mechanisms and common principles

28 July 2018

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Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor

21 January 2018

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

21 January 2018

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Expression of androgen receptor in X-linked spinal and bulbar muscular atrophy and amyotrophic lateral sclerosis

21 January 2018

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Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease).

21 January 2018

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

21 January 2018

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Ligand promotes intranuclear inclusions in a novel cell model of spinal and bulbar muscular atrophy

21 January 2018

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Men with Kennedy disease have a reduced risk of androgenetic alopecia

21 January 2018

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12 December 2020

Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers

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12 December 2020

Pathology of myelinated fibers in cervical and lumbar ventral spinal roots in amyotrophic lateral sclerosis

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12 December 2020

Jaw drop in Kennedy's disease

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12 December 2020

Identifiers

DOI

10.1111/ODI.12121

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16 October 2017

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16 October 2017

PubMed publication ID

23656576

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