(Q34313883)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15852399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

title

Distal spinal and bulbar muscular atrophy caused by dynactin mutation (English)

1 reference

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11 January 2020

1 reference

14

1 reference

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11 January 2020

12

Erika L F Holzbaur

1 reference

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11 January 2020

author name string

Imke Puls

1

1 reference

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11 January 2020

Shin J Oh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15852399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Charlotte J Sumner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15852399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Karen E Wallace

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15852399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Mary Kay Floeter

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15852399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Eric A Mann

6

1 reference

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11 January 2020

William R Kennedy

7

1 reference

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11 January 2020

Gwen Wendelschafer-Crabb

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15852399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Alexander Vortmeyer

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15852399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Richard Powers

10

1 reference

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11 January 2020

Kimberly Finnegan

11

1 reference

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11 January 2020

Kenneth H Fischbeck

13

1 reference

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11 January 2020

publication date

1 May 2005

1 reference

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11 January 2020

1 reference

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11 January 2020

volume

57

1 reference

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11 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15852399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

page(s)

687-694

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15852399%20AND%20SRC:MED&resulttype=core&format=json

Motor neurons rely on motor proteins

11 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

A direct interaction between cytoplasmic dynein and kinesin I may coordinate motor activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Axonal swellings predict the degeneration of epidermal nerve fibers in painful neuropathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Retrograde transport redux.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Toxic proteins in neurodegenerative disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Neurofilaments and orthograde transport are reduced in ventral root axons of transgenic mice that express human SOD1 with a G93A mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Quantitation of epidermal nerves in diabetic neuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Molecular characterization of the 50-kD subunit of dynactin reveals function for the complex in chromosome alignment and spindle organization during mitosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Electrophysiological study of diaphragmatic myoclonus.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Hereditary distal spinal muscular atrophy with vocal cord paralysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Monoclonal antibodies distinguish phosphorylated and nonphosphorylated forms of neurofilaments in situ

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

The paralyzed larynx: an electromyographic study in dogs and humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

An electromyographic study of recurrent laryngeal nerve conduction and its clinical applications.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Distal spinal muscular atrophy with vocal cord paralysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Hereditary abductor vocal cord paralysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Autosomal dominantly inherited adductor laryngeal paralysis--a new syndrome with a suggestion of linkage to HLA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Bilateral Abductor Vocal Cord Paralysis in Charcot-Marie-Tooth Disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.20468

Retarded axonal transport of R406W mutant tau in transgenic mice with a neurodegenerative tauopathy.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

CONGENITAL LARYNGEAL-ABDUCTOR PARALYSIS DUE TO NUCLEUS AMBIGUUS DYSGENESIS IN THREE BROTHERS.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Mutations in dynein link motor neuron degeneration to defects in retrograde transport

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Mutant dynactin in motor neuron disease.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1351270

The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders

28 October 2018

1 reference

12 December 2020

Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy

1 reference

12 December 2020

Electrodes in laryngeal electromyography. Reliability comparison

1 reference

12 December 2020

Familial laryngeal abductor paralysis and psychomotor retardation

1 reference

12 December 2020

Use of hooked-wire electrodes for electromyography of the intrinsic laryngeal muscles

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.20468

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15852399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15852399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

PubMed publication ID

15852399

1 reference