about
Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancerA missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaMutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystoniaThe colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expressionMutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosisMicrodeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disabilityMeta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancerA 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.Clinical and genetic characterization of leukoencephalopathies in adults.Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial diseaseAllelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UKHomozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.Novel CLN3 mutation causing autophagic vacuolar myopathy.Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.Evaluation of germline BMP4 mutation as a cause of colorectal cancer.Untangling the tau gene association with neurodegenerative disorders.Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansionFine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes.MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsGenetic and phenotypic characterization of complex hereditary spastic paraplegiaClinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutationRare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals.Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk.Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.Word Recognition and Learning: Effects of Hearing Loss and Amplification Feature.Validation of next-generation sequencing technologies in genetic diagnosis of dementia.The CDH1-160C>A polymorphism is a risk factor for colorectal cancer.Detection of long repeat expansions from PCR-free whole-genome sequence data.Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
P50
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0002-8112-2987
@en
name
Alan Pittman
@ast
Alan Pittman
@en
Alan Pittman
@es
Alan Pittman
@nl
type
label
Alan Pittman
@ast
Alan Pittman
@en
Alan Pittman
@es
Alan Pittman
@nl
altLabel
Alan M Pittman
@en
prefLabel
Alan Pittman
@ast
Alan Pittman
@en
Alan Pittman
@es
Alan Pittman
@nl
P1053
D-6231-2012
P106
P21
P31
P496
0000-0002-8112-2987