List of works - Matt Baker

A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study

scientific article

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin

scientific article

Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations

article

Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction

scientific article

Ataxin-2 repeat-length variation and neurodegeneration

scientific article

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

scientific article published on 21 August 2008

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

scientific article

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

scientific article

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study

scientific article published on 9 October 2006

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

scientific article published on 09 February 2019

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms

scientific article published on 8 March 2007

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

scientific article published on 26 July 2012

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

scientific article

MRS in early and presymptomatic carriers of a novel octapeptide repeat insertion in the prion protein gene

scientific article

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

scientific article

Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS.

scientific article published on 28 April 2013

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

scientific article published on 25 December 2011

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

scientific article

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

scientific article published on 17 June 2013

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

scientific article published in October 2007

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

scientific article published on 21 January 2009

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article

Prominent phenotypic variability associated with mutations in Progranulin

scientific article

Psychometric evaluation of personality in a patient with FTDP-17

scientific article published on 01 April 2010

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

scientific article

TDP-43 A315T mutation in familial motor neuron disease

scientific article published on April 2008

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

scientific article published on 21 June 2013

TYROBP genetic variants in early-onset Alzheimer's disease

scientific article published on 8 August 2016

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

scientific article published on 6 May 2015

List of works by Matt Baker

A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin

Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations

Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction

Ataxin-2 repeat-length variation and neurodegeneration

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

Frontotemporal dementia and its subtypes: a genome-wide association study

Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

MRS in early and presymptomatic carriers of a novel octapeptide repeat insertion in the prion protein gene

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

Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS.

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Prominent phenotypic variability associated with mutations in Progranulin

Psychometric evaluation of personality in a patient with FTDP-17

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

TDP-43 A315T mutation in familial motor neuron disease

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

TYROBP genetic variants in early-onset Alzheimer's disease

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease