Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat (Q34615224)

3 August 2017

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat (English)

1 reference

3 August 2017

1 reference

1 reference

2

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13 June 2020

author name string

Christopher Grunseich

1

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13 June 2020

Laura C Bott

3

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13 June 2020

Carlo Rinaldi

4

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13 June 2020

Angela Kokkinis

5

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13 June 2020

Derrick Fox

6

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13 June 2020

Ke-Lian Chen

7

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13 June 2020

Alice B Schindler

8

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13 June 2020

Ami K Mankodi

9

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13 June 2020

Joseph A Shrader

10

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13 June 2020

Daniel P Schwartz

11

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13 June 2020

Tanya J Lehky

12

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13 June 2020

Chia-Ying Liu

13

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13 June 2020

Kenneth H Fischbeck

14

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13 June 2020

publication date

3 July 2014

1 reference

3 August 2017

Neuromuscular Disorders

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13 June 2020

volume

24

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13 June 2020

issue

11

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13 June 2020

page(s)

978-981

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Spinal and bulbar muscular atrophy: pathogenesis and clinical management

13 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

Clinical features of spinal and bulbar muscular atrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

Mitochondrial abnormalities in spinal and bulbar muscular atrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

Effect of GGC (glycine) repeat length polymorphism in the human androgen receptor on androgen action

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

CREB-binding protein sequestration by expanded polyglutamine

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

Epidermal nerve fiber density: normative reference range and diagnostic efficiency.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

Small-fiber neuropathy with cardiac denervation in postural tachycardia syndrome

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252652

Variable expression of 5 alpha-reductase deficiency: presentation with male phenotype in a child of Greek origin

26 October 2018

1 reference

12 December 2020

Primary sensory neurons in X-linked recessive bulbospinal neuropathy: histopathology and androgen receptor gene expression

1 reference

12 December 2020

Muscular weakness assessment: use of normal isometric strength data. The National Isometric Muscle Strength (NIMS) Database Consortium

1 reference

12 December 2020

Men with Kennedy disease have a reduced risk of androgenetic alopecia

1 reference

12 December 2020

Small-fiber involvement in spinobulbar muscular atrophy (Kennedy's disease)

1 reference

12 December 2020

Intraepidermal nerve fibre density in cancer patients receiving adjuvant chemotherapy

1 reference

12 December 2020

10.1016/J.NMD.2014.06.441

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25047668%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

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13 June 2020

1 reference

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