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Characterization of DCTN1 genetic variability in neurodegeneration.

Characterization of DCTN1 genetic variability in neurodegeneration.

http://www.wikidata.org/entity/Q37216156

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Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia Tubulin-binding cofactor B is a direct interaction partner of the dynactin subunit p150(Glued)DNAJC13 mutations in Parkinson disease Mechanism and regulation of cytoplasmic dynein Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?Prognostic transcriptional association networks: a new supervised approach based on regression trees.Amyloid precursor protein cleavage-dependent and -independent axonal degeneration programs share a common nicotinamide mononucleotide adenylyltransferase 1-sensitive pathway.Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation.Phenotypic and molecular analyses of primary lateral sclerosis.Analysis of CYP27B1 in multiple sclerosis Identification of FUS p.R377W in essential tremor Regulated protein aggregation: stress granules and neurodegeneration "Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.Microtubule defects & Neurodegeneration.Atypical Parkinsonian syndromes: a general neurologist's perspective.Genetics of FTLD: overview and what else we can expect from genetic studies.Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?DCTN1-related neurodegeneration: Perry syndrome and beyond.Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.Dysphagia in Perry Syndrome: Pharyngeal Pressure in Two Cases.Dynactin Deficiency in the CNS of Humans with Sporadic ALS and Mice with Genetically Determined Motor Neuron Degeneration Combining Structure-Function and Single-Molecule Studies on Cytoplasmic Dynein.Establishing diagnostic criteria for Perry syndrome.Perry Syndrome: A Distinctive Type of TDP-43 Proteinopathy.The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.Familial Amyotrophic Lateral Sclerosis.

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Characterization of DCTN1 genetic variability in neurodegeneration.

http://www.wikidata.org/entity/Q37216156

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on June 2009

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Characterization of DCTN1 genetic variability in neurodegeneration.

@en

Characterization of DCTN1 genetic variability in neurodegeneration.

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type

label

Characterization of DCTN1 genetic variability in neurodegeneration.

@en

Characterization of DCTN1 genetic variability in neurodegeneration.

@nl

prefLabel

Characterization of DCTN1 genetic variability in neurodegeneration.

@en

Characterization of DCTN1 genetic variability in neurodegeneration.

@nl

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Characterization of DCTN1 genetic variability in neurodegeneration

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A Destée

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A I Soto-Ortolaza

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A Krygowska-Wajs

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B F Boeve

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B H Keeling

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B Miller

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C H Adler

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C Wider

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F Hentati

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J C Dachsel

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P2860

CLIP170 autoinhibition mimics intermolecular interactions with p150Glued or EB1

Structure-function relationship of CAP-Gly domains

Role of axonal transport in neurodegenerative diseases

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

Regulation of dynactin through the differential expression of p150Glued isoforms.

DCTN1 mutations in Perry syndrome.

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

Axonal transport and neurodegenerative disease.

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

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2024-2028

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Carles Vilariño-Güell

Dennis W. Dickson

Matthew J. Farrer

Marie-Christine Chartier-Harlin

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2009-06-01T00:00:00Z

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