Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum

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ALS and FTD: an epigenetic perspective

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

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Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers

(2016) Annelot M. Dekker et al.   NEUROBIOLOGY OF AGING

TYROBP genetic variants in early-onset Alzheimer's disease

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LRRK2 variation and dementia with Lewy bodies

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C9orf72 is required for proper macrophage and microglial function in mice

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

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia

(2015) Anna Bartoletti-Stella et al.   JOURNAL OF NEUROLOGY

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

(2015) David S Lynch et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

(2015) Aoife P. Kiely et al.   Molecular Neurodegeneration

TREM2 in CNS homeostasis and neurodegenerative disease

(2015) Meghan M. Painter et al.   Molecular Neurodegeneration

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

(2015) Johnathan Cooper-Knock et al.   Neurotherapeutics

Protective and Toxic Neuroinflammation in Amyotrophic Lateral Sclerosis

(2015) Kristopher G. Hooten et al.   Neurotherapeutics

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)

(2015) Serena Lattante et al.   TRENDS IN GENETICS

The established and emerging roles of astrocytes and microglia in amyotrophic lateral sclerosis and frontotemporal dementia

(2015) Rowan A. Radford et al.   Frontiers in Cellular Neuroscience

Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations

(2015) Julie S. Snowden et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS

(2014) Janis Bennion Callister et al.   EXPERIMENTAL NEUROLOGY

CSF-1 Receptor Signaling in Myeloid Cells

(2014) E. R. Stanley et al.   Cold Spring Harbor Perspectives in Biology

TREM2Variant p.R47H as a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis

(2014) Janet Cady et al.   JAMA Neurology

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

(2013) Jon Beck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrated Systems Approach Identifies Genetic Nodes and Networks in Late-Onset Alzheimer’s Disease

(2013) Bin Zhang et al.   CELL

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

(2013) Sruti Rayaprolu et al.   Molecular Neurodegeneration

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease

(2013) Margarita Giraldo et al.   NEUROBIOLOGY OF AGING

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

(2013) John Beck et al.   NEUROBIOLOGY OF AGING

Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation

(2013) L. Di Vito et al.   NEUROGENETICS

Comment: Double mutants of frontotemporal dementia genes--Simple co-occurrence?

(2013) P. Pastor   NEUROLOGY

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

(2013) M. van Blitterswijk et al.   NEUROLOGY

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

(2013) D. J. Hensman Moss et al.   NEUROLOGY

A pathogenicprogranulinmutation andC9orf72repeat expansion in a family with frontotemporal dementia

(2013) Tammaryn Lashley et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Genetic study on frontotemporal lobar degeneration in India

(2013) Gautami Das et al.   PARKINSONISM & RELATED DISORDERS

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

(2013) Marc Cruts et al.   TRENDS IN NEUROSCIENCES

Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement

(2013) Rita João Guerreiro et al.   JAMA Neurology

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

ALS/FTD phenotype in two Sardinian families carrying bothC9ORF72andTARDBPmutations

(2012) Adriano Chiò et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions ofC9ORF72

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

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Screening for C9ORF72 repeat expansion in FTLD

(2012) Raffaele Ferrari et al.   NEUROBIOLOGY OF AGING

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

(2012) Marka van Blitterswijk et al.   NEUROBIOLOGY OF AGING

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

(2012) Thorlakur Jonsson et al.   NEW ENGLAND JOURNAL OF MEDICINE

TREM2 Variants in Alzheimer's Disease

(2012) Rita Guerreiro et al.   NEW ENGLAND JOURNAL OF MEDICINE

A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis

(2011) Michela Visani et al.   Amyotrophic Lateral Sclerosis

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

(2011) Katya Rascovsky et al.   BRAIN

ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival: Table 1

(2011) M Weber et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Aggressive familial ALS with unusual brain MRI and a SOD1 gene mutation

(2010) Sergiu C. Blumen et al.   Amyotrophic Lateral Sclerosis

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations

(2010) Jonathan D. Rohrer et al.   NEUROIMAGE

A thorough assessment of benign genetic variability inGRNandMAPT

(2009) Rita J. Guerreiro et al.   HUMAN MUTATION