Locus-specific mutation databases for neurodegenerative brain diseases (Q36302037)

13 August 2017

Locus-specific mutation databases for neurodegenerative brain diseases (English)

1 reference

Christine Van Broeckhoven

13 August 2017

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1 reference

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3

object named as

Christine Van Broeckhoven

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Jessie Theuns

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Jessie Theuns

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2

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Marc Cruts

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1

object named as

Marc Cruts

1 reference

13 August 2017

2 July 2012

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13 August 2017

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13 August 2017

33

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13 August 2017

9

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13 August 2017

1340-1344

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Ontological phenotype standards for neurogenetics

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Database resources of the National Center for Biotechnology Information

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

genenames.org: the HGNC resources in 2011.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

A novel ATP-dependent conformation in p97 N–D1 fragment revealed by crystal structures of disease-related mutants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

NCBI Reference Sequences: current status, policy and new initiatives

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Molecular genetics of Alzheimer's disease: an update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Alzheimer's disease: the amyloid cascade hypothesis: an update and reappraisal.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

The role of tau (MAPT) in frontotemporal dementia and related tauopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Presenilin mutations in Alzheimer's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Amyloid, the presenilins and Alzheimer's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype research

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Developing the "next generation" of genetic association databases for complex diseases

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465795

The HUGO Mutation Database Initiative

22 September 2018

1 reference

12 December 2020

Molecular genetics of Alzheimer's disease

1 reference

12 December 2020

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

1 reference

12 December 2020

1 reference

12 December 2020

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.22117

1 reference

13 August 2017

1 reference

PMC publication ID

3465795

13 August 2017

PubMed publication ID

22581678

1 reference

PMC publication ID

3465795