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

25047668

3 August 2017

title

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

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3 August 2017

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13 June 2020

author name string

Christopher Grunseich

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13 June 2020

Laura C Bott

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13 June 2020

Carlo Rinaldi

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13 June 2020

Angela Kokkinis

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13 June 2020

Derrick Fox

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13 June 2020

Ke-Lian Chen

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13 June 2020

Alice B Schindler

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13 June 2020

Ami K Mankodi

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13 June 2020

Joseph A Shrader

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13 June 2020

Daniel P Schwartz

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13 June 2020

Tanya J Lehky

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13 June 2020

Chia-Ying Liu

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Kenneth H Fischbeck

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13 June 2020

publication date

3 July 2014

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25047668

3 August 2017

published in

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

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7 July 2018

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Clinical features of spinal and bulbar muscular atrophy

7 July 2018

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Mitochondrial abnormalities in spinal and bulbar muscular atrophy

7 July 2018

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

7 July 2018

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

7 July 2018

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CREB-binding protein sequestration by expanded polyglutamine

7 July 2018

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Epidermal nerve fiber density: normative reference range and diagnostic efficiency

7 July 2018

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

7 July 2018

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

7 July 2018

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

26 October 2018

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Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor

26 October 2018

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

26 October 2018

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

26 October 2018

1 reference

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Small-fiber neuropathy with cardiac denervation in postural tachycardia syndrome

26 October 2018

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

26 October 2018

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Men with Kennedy disease have a reduced risk of androgenetic alopecia

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12 December 2020

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

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12 December 2020

Intraepidermal nerve fibre density in cancer patients receiving adjuvant chemotherapy

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12 December 2020

10.1016/J.NMD.2014.06.441

Identifiers

DOI

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13 June 2020

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13 June 2020

25047668

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