(Q34714497)

4 August 2017

Mutation analysis of patients with neurodegenerative disorders using NeuroX array (English)

1 reference

4 August 2017

1 reference

Mahdi Ghani

1

0 references

Benedetta Nacmias

Benedetta Nacmias

4

0 references

Sandro Sorbi

Sandro Sorbi

Peter Henry St George-Hyslop

5

0 references

Peter St George-Hyslop

16

0 references

Anthony Lang

Anthony E Lang

2

0 references

Ekaterina Rogaeva

17

Ekaterina Rogaeva

1 reference

4 August 2017

15

Andrew Singleton

1 reference

4 August 2017

3

Lorne Zinman

1 reference

4 August 2017

10

Christine Sato

1 reference

4 August 2017

Maria Carmela Tartaglia

8

Maria Carmela Tartaglia

1 reference

4 August 2017

9

Ezequiel I Surace

1 reference

4 August 2017

11

Danielle Moreno

1 reference

4 August 2017

7

Andrea Tedde

1 reference

4 August 2017

6

Valentina Bessi

1 reference

4 August 2017

Zhengrui Xi

12

1 reference

4 August 2017

Rachel Hung

13

1 reference

4 August 2017

Mike A Nalls

14

1 reference

4 August 2017

1 August 2014

1 reference

4 August 2017

Neurobiology of Aging

1 reference

4 August 2017

36

1 reference

4 August 2017

1

1 reference

4 August 2017

545.e9-14

1 reference

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Coding mutations in SORL1 and Alzheimer disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Identical twins with the C9orf72 repeat expansion are discordant for ALS

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Assessment of Parkinson's disease risk loci in Greece

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

The genetics of Parkinson's disease: progress and therapeutic implications

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

TREM2 Variants in Alzheimer's Disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Investigation of c9orf72 in 4 neurodegenerative disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

A two-stage meta-analysis identifies several new loci for Parkinson's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Small insertions and deletions (INDELs) in human genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Soluble amyloid precursor protein (APP) regulates transthyretin and Klotho gene expression without rescuing the essential function of APP

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Use of haptoglobin and transthyretin as potential biomarkers for the preclinical diagnosis of Parkinson's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Structural variation in the human genome and its role in disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Copy-number variations associated with neuropsychiatric conditions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Segmental duplications in genome-wide significant loci and housekeeping genes; warning for GAPDH and ACTB.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

TREM2 and neurodegenerative disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4268030

LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25174650

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEUROBIOLAGING.2014.07.038

1 reference

4 August 2017

1 reference

4 August 2017

1 reference