(Q33618272)

28 July 2017

title

Elucidating the genetics and pathology of Perry syndrome (English)

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28 July 2017

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28 July 2017

Matthew J Farrer

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Zbigniew K Wszolek

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28 July 2017

Justus C Dachsel

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28 July 2017

Yoshio Tsuboi

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28 July 2017

Christian Wider

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28 July 2017

publication date

4 September 2009

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Journal of the Neurological Sciences

28 July 2017

published in

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28 July 2017

volume

289

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28 July 2017

issue

1-2

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28 July 2017

page(s)

149-154

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DCTN1 mutations in Perry syndrome

28 July 2017

cites work

1 reference

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21 June 2018

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21 June 2018

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Pallidonigral TDP-43 pathology in Perry syndrome

21 June 2018

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Abnormal TDP-43 immunoreactivity in AD modifies clinicopathologic and radiologic phenotype.

21 June 2018

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21 June 2018

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Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation

21 June 2018

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TDP-43 A315T mutation in familial motor neuron disease

21 June 2018

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TDP-43 immunoreactivity in neurodegenerative disorders: disease versus mechanism specificity

21 June 2018

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Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review

21 June 2018

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Structure-function relationship of CAP-Gly domains

21 June 2018

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TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease

21 June 2018

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21 June 2018

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A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation

21 June 2018

1 reference

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases

21 June 2018

1 reference

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Familial parkinsonian syndrome with athymhormia and hypoventilation

21 June 2018

1 reference

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Hereditary Mental Depression and Parkinsonism With Taurine Deficiency

21 June 2018

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21 June 2018

1 reference

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TDP-43: an emerging new player in neurodegenerative diseases

21 June 2018

1 reference

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Neurodegeneration involving putative respiratory neurons in Perry syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813334

A microtubule-binding domain in dynactin increases dynein processivity by skating along microtubules.

30 October 2018

1 reference

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Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813334

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813334

Mutant dynactin in motor neuron disease.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813334

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813334

Japanese family with parkinsonism, depression, weight loss, and central hypoventilation

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813334

[Perry and Purdy's syndrome (familial and fatal parkinsonism with hypoventilation and athymhormia)]

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19732908

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JNS.2009.08.044

1 reference

28 July 2017

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28 July 2017

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