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

Alan E. Renton, Elisa Majounie, Adrian J. Waite, +73

Neuron

ChromatinNeurodegenerative DiseasesAmyotrophic Lateral SclerosisGenetic DisorderGenetics +6

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

Elisa Majounie, Alan E. Renton, Kin Y. Mok, +56

The Lancet Neurology

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisDementiaFrontotemporal DementiaNeuroscience +5

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

Adrian J. Waite, Dirk Bäumer, Simon Z. East, +4

Neurobiology of Aging

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisC9orf72 Protein LevelsSmaller Repeat ExpansionsGenetics +10

<scp>C</scp>9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

Max Koppers, Anna M. Blokhuis, Henk‐Jan Westeneng, +9

Annals of Neurology

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

Pietro Fratta, Mark Poulter, Tammaryn Lashley, +16

Acta Neuropathologica

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

Kathryn J. Peall, Daniel J. Smıth, Manju A. Kurian, +22

Brain

Knockdown of Human TCF4 Affects Multiple Signaling Pathways Involved in Cell Survival, Epithelial to Mesenchymal Transition and Neuronal Differentiation

Marc P. Forrest, Adrian J. Waite, Enca Martin‐Rendon, +1

PLoS ONE

GeneticsCell DeathNeuronal DifferentiationGene CharacterizationDisease Gene Identification +28

SGCE missense mutations that cause myoclonus-dystonia syndrome impair ε-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

Christopher T. Esapa, Adrian J. Waite, Matthew Locke, +6

Human Molecular Genetics

The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability

Marc P. Forrest, Matthew Hill, David H. Kavanagh, +3

Schizophrenia Bulletin

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

Justin Pearson, Nigel Williams, Elisa Majounie, +9

Journal of Neurology

Amyotrophic Lateral SclerosisMendelian DisorderChromosome 9PGenetic DisorderDementia +9