(Q30485675)

12 August 2017

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research (English)

1 reference

12 August 2017

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39

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Andreas Puschmann

Andreas Puschmann

27

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Patrick A. Lewis

Patrick A Lewis

6

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Huw R Morris

Huw R Morris

14

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Alberto J. Espay

Alberto J Espay

29

0 references

Jon Stoessl

A Jon Stoessl

34

0 references

Michael J Devine

Michael J Devine

11

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Selina Wray

Selina Wray

1

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Elisavet Preza

Elisavet Preza

17

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Colin J Mahoney

Colin J Mahoney

9

0 references

Martin Rossor

Martin N Rossor

48

0 references

Ryan J Uitti

23

Ryan J Uitti

1 reference

12 August 2017

47

Zbigniew K Wszolek

1 reference

12 August 2017

49

John Hardy

1 reference

12 August 2017

22

Anthony H V Schapira

1 reference

12 August 2017

40

Ted M Dawson

1 reference

12 August 2017

7

Jan-Willem Taanman

1 reference

12 August 2017

35

Owen A Ross

1 reference

12 August 2017

Barbara Jasinska-Myga

26

Barbara Jasinska-Myga

1 reference

12 August 2017

32

Bradley F Boeve

1 reference

12 August 2017

25

Grzegorz Opala

1 reference

12 August 2017

30

Jaroslaw Slawek

1 reference

12 August 2017

43

Lorraine N Clark

1 reference

12 August 2017

José Félix Martí Massó

16

Jose-Felix Marti-Masso

1 reference

12 August 2017

33

Kevin Boylan

1 reference

12 August 2017

37

Jay Van Gerpen

1 reference

12 August 2017

31

Ludwig Gutmann

1 reference

12 August 2017

42

Karen S Marder

1 reference

12 August 2017

41

Ole Isacson

1 reference

12 August 2017

15

Daniel Healy

1 reference

12 August 2017

Matthew Self

2

1 reference

12 August 2017

NINDS Parkinson's Disease iPSC Consortium

3

1 reference

12 August 2017

NINDS Huntington's Disease iPSC Consortium

4

1 reference

12 August 2017

NINDS ALS iPSC Consortium

5

1 reference

12 August 2017

Natalie S Ryan

8

1 reference

12 August 2017

Yuying Liang

10

1 reference

12 August 2017

Una-Marie Sheerin

12

1 reference

12 August 2017

Henry Houlden

13

1 reference

12 August 2017

Suzanne Barker

18

1 reference

12 August 2017

Margaret Sutherland

19

1 reference

12 August 2017

Roderick A Corriveau

20

1 reference

12 August 2017

Michael D'Andrea

21

1 reference

12 August 2017

Mark Guttman

24

1 reference

12 August 2017

Christer Nilsson

28

1 reference

12 August 2017

Nicholas J Maragakis

36

1 reference

12 August 2017

Melissa Gerstenhaber

38

1 reference

12 August 2017

Serge E Przedborski

44

1 reference

12 August 2017

Steven Finkbeiner

45

1 reference

12 August 2017

Jeffrey D Rothstein

46

1 reference

12 August 2017

language of work or name

English

0 references

publication date

27 August 2012

1 reference

12 August 2017

1 reference

12 August 2017

7

1 reference

12 August 2017

8

1 reference

12 August 2017

e43099

1 reference

Creative Commons CC0 License

12 August 2017

start time

27 August 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

describes a project that uses

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Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Muse cells and induced pluripotent stem cell: implication of the elite model

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Reprogramming cellular identity for regenerative medicine

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

A human stem cell model of early Alzheimer's disease pathology in Down syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Directed conversion of Alzheimer's disease patient skin fibroblasts into functional neurons

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Multilineage-differentiating stress-enduring (Muse) cells are a primary source of induced pluripotent stem cells in human fibroblasts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Adult-onset leg dystonia due to a missense mutation in THAP1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Frontotemporal dementia and parkinsonism linked to chromosome 17--the first Polish family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

The heritability and genetics of frontotemporal lobar degeneration.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Molecules that promote or enhance reprogramming of somatic cells to induced pluripotent stem cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

DCTN1 mutations in Perry syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Pallidonigral TDP-43 pathology in Perry syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Disease-specific induced pluripotent stem cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Reprogramming of human somatic cells to pluripotency with defined factors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Induced pluripotent stem cell lines derived from human somatic cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Application of genome-wide single nucleotide polymorphism typing: simple association and beyond

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Limitations of cellular models in Parkinson's disease research

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

alpha-Synuclein locus triplication causes Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

The serial cultivation of human diploid cell strains

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Identification and characterization of a fibroblast marker: FSP1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Enzymatic and chromosomal characterization of HeLa variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Frequency of LRRK2 mutations in early- and late-onset Parkinson disease.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

A presenilin 1 R278I mutation presenting with language impairment.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Early onset familial Alzheimer's disease: Mutation frequency in 31 families.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428297

Western Nebraska family (family D) with autosomal dominant parkinsonism

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22952635

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial Alzheimer's disease co-segregates with a Met146I1e substitution in presenilin-1

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22952635

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22952635

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0043099

1 reference

12 August 2017

0 references

1 reference

12 August 2017

1 reference