Lista de obras -

A comprehensive screening of copy number variability in dementia with Lewy bodies

scientific article published on 24 October 2018

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

artículo científico publicado en 2008

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

artículo científico publicado en 2016

ATXN2 trinucleotide repeat length correlates with risk of ALS.

artículo científico publicado en 2016

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

artículo científico publicado en 2011

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

artículo científico publicado en 2016

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

scientific article published on 29 January 2020

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

artículo científico publicado en 2011

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

artículo científico publicado en 2010

Effects of formalin fixation, paraffin embedding, and time of storage on DNA preservation in brain tissue: a BrainNet Europe study

artículo científico publicado en 2007

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

artículo científico publicado en 2017

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease

artículo científico publicado en 2014

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

artículo científico publicado en 2014

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

artículo científico publicado en 2014

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

artículo científico publicado en 2016

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 2018

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

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

artículo científico publicado en 2015

Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes

scientific article published on 01 April 2020

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease

artículo científico publicado en 2016

Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma

artículo científico publicado en 2017

Inter-laboratory comparison of neuropathological assessments of β-amyloid protein: a study of the BrainNet Europe consortium

artículo científico publicado en 2008

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

artículo científico publicado en 2017

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

artículo científico publicado en 2014

LRRK2 exonic variants and risk of multiple system atrophy

artículo científico publicado en 2014

Magnetic resonance imaging signatures of tissue pathology in frontotemporal dementia

artículo científico publicado en 2005

Management of a twenty-first century brain bank: experience in the BrainNet Europe consortium.

artículo científico publicado en 2008

Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.

artículo científico publicado en 2018

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

artículo científico publicado en 2017

Mixed brain pathologies in dementia: the BrainNet Europe consortium experience

artículo científico publicado en 2008

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

artículo científico publicado en 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2016

Neuron-specific alterations in signal transduction pathways associated with Alzheimer's disease

artículo científico publicado en 2014

Neuron-specific mitochondrial DNA deletion levels in sporadic Alzheimer's disease

artículo científico publicado en 2013

New lexicon and criteria for the diagnosis of Alzheimer's disease

artículo científico publicado en 2011

Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene

artículo científico publicado en 2008

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

artículo científico publicado en 2018

Pseudoprogression in children, adolescents and young adults with non-brainstem high grade glioma and diffuse intrinsic pontine glioma

artículo científico publicado en 2016

Sporadic and familial dementia with ubiquitin-positive tau-negative inclusions: clinical features of one histopathological abnormality underlying frontotemporal lobar degeneration

artículo científico publicado en 2005

Staging of neurofibrillary pathology in Alzheimer's disease: a study of the BrainNet Europe Consortium

artículo científico publicado en 2008

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes

artículo científico publicado en 2015

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

artículo científico publicado en 2014

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

artículo científico publicado en 2012

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

scientific article published on 19 November 2011

Lista de obras de

A comprehensive screening of copy number variability in dementia with Lewy bodies

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

ATXN2 trinucleotide repeat length correlates with risk of ALS.

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Effects of formalin fixation, paraffin embedding, and time of storage on DNA preservation in brain tissue: a BrainNet Europe study

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease

Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma

Inter-laboratory comparison of neuropathological assessments of β-amyloid protein: a study of the BrainNet Europe consortium

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

LRRK2 exonic variants and risk of multiple system atrophy

Magnetic resonance imaging signatures of tissue pathology in frontotemporal dementia

Management of a twenty-first century brain bank: experience in the BrainNet Europe consortium.

Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

Mixed brain pathologies in dementia: the BrainNet Europe consortium experience

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Neuron-specific alterations in signal transduction pathways associated with Alzheimer's disease

Neuron-specific mitochondrial DNA deletion levels in sporadic Alzheimer's disease

New lexicon and criteria for the diagnosis of Alzheimer's disease

Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene

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

Pseudoprogression in children, adolescents and young adults with non-brainstem high grade glioma and diffuse intrinsic pontine glioma

Sporadic and familial dementia with ubiquitin-positive tau-negative inclusions: clinical features of one histopathological abnormality underlying frontotemporal lobar degeneration

Staging of neurofibrillary pathology in Alzheimer's disease: a study of the BrainNet Europe Consortium

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS