(Q33764538)

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Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24803225%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24803225%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Parkinson's disease

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

4

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17 March 2020

Joseph A. Maldjian

6

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17 March 2020

Adrian L. Oblak

1

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Adrian L Oblak

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17 March 2020

Bernardino F. Ghetti

13

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Bernardino Ghetti

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17 March 2020

10

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Jill R Murrell

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17 March 2020

Allison Brashear

12

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Allison Brashear

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17 March 2020

11

object named as

Laurie J Ozelius

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17 March 2020

author name string

Matthew C Hagen

2

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17 March 2020

Kathleen J Sweadner

3

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17 March 2020

Christopher T Whitlow

5

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17 March 2020

Francine Epperson

7

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17 March 2020

Jared F Cook

8

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17 March 2020

Mark Stacy

9

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17 March 2020

publication date

7 May 2014

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17 March 2020

Acta Neuropathologica

1 reference

Europe PubMed Central

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17 March 2020

128

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17 March 2020

1

1 reference

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17 March 2020

81-98

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17 March 2020

copyright license

Creative Commons Attribution 4.0 International

7 May 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Cognitive impairment in rapid-onset dystonia-parkinsonism

1 reference

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14 July 2018

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients

1 reference

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14 July 2018

Psychiatric disorders in rapid-onset dystonia-parkinsonism

1 reference

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14 July 2018

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059967

14 July 2018

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059967

14 July 2018

New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059967

14 July 2018

National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease

1 reference

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14 July 2018

National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: a practical approach

1 reference

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14 July 2018

Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059967

14 July 2018

Focal white matter changes in spasmodic dysphonia: a combined diffusion tensor imaging and neuropathological study.

1 reference

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14 July 2018

Visualizing white matter pathways in the living human brain: diffusion tensor imaging and beyond

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059967

14 July 2018

The treatment and management of alternating hemiplegia of childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059967

14 July 2018

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059967

14 July 2018

The Unified Parkinson's Disease Rating Scale (UPDRS): status and recommendations

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14 July 2018

Pallidoluysian atrophy: dystonia and basal ganglia functional anatomy

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14 July 2018

Staging of Alzheimer's disease-related neurofibrillary changes

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14 July 2018

Meige syndrome: neuropathology of a case

1 reference

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14 July 2018

The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease

1 reference

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14 July 2018

Differential effects of Na+-K+ ATPase blockade on cortical layer V neurons

1 reference

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21 January 2018

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

1 reference

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21 January 2018

Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood

1 reference

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21 January 2018

Differential expression of Na+/K+-ATPase alpha-subunits in mouse hippocampal interneurones and pyramidal cells.

1 reference

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21 January 2018

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

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21 January 2018

Genotype-phenotype correlations in alternating hemiplegia of childhood.

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21 January 2018

Rapid-onset dystonia-parkinsonism: case report

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21 January 2018

Isoforms of Na,K-ATPase alpha and beta subunits in the rat cerebellum and in granule cell cultures.

1 reference

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30 October 2018

Rapid-onset dystonia-parkinsonism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4059967

30 October 2018

The expanding clinical and genetic spectrum of ATP1A3-related disorders

1 reference

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12 December 2020

based on heuristic

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Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI

1 reference

https://pubmed.ncbi.nlm.nih.gov/24803225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Validity and reliability of a rating scale for the primary torsion dystonias

1 reference

https://pubmed.ncbi.nlm.nih.gov/24803225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monoclonal antibodies directed against the calcium binding protein Calbindin D-28k

1 reference

https://pubmed.ncbi.nlm.nih.gov/24803225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/24803225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism

1 reference

https://pubmed.ncbi.nlm.nih.gov/24803225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Case records of the Massachusetts General Hospital. Case 17-2010 - a 29-year-old woman with flexion of the left hand and foot and difficulty speaking

1 reference

https://pubmed.ncbi.nlm.nih.gov/24803225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical spectrum of disease associated with ATP1A3 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/24803225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00401-014-1279-X

1 reference

Europe PubMed Central

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17 March 2020

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17 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

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17 March 2020

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