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

A functional screen implicates microRNA-138-dependent regulation of the depalmitoylation enzyme APT1 in dendritic spine morphogenesis

Gabriele Siegel, Gregor Obernosterer, Roberto Fiore, +19

Nature Cell Biology

Developmental BiologyMolecular NeuroscienceDendritic Spine MorphogenesisMicrorna DetectionFunctional Screen +6

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kevin P. Kenna, Perry T.C. van Doormaal, Annelot M. Dekker, +76

Nature Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisNeurological DisorderNeurologyNeuroscience +2

Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse

Thomas Schmitt‐John, Carsten Drepper, Anke Mußmann, +9

Nature Genetics

Knockout MouseMolecular NeuroscienceDevelopmental BiologyGerm CellGenetics +10

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

Adriano Chiò, Giuseppe Borghero, Gabriella Restagno, +43

Brain

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Russell L. McLaughlin, Dick Schijven, Wouter van Rheenen, +429

Nature Communications

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

Rajeeve Sivadasan, Daniel Hornburg, Carsten Drepper, +11

Nature Neuroscience

Cellular NeurobiologyMolecular NeurosciencePhysiologyMotor SystemCell Motility +9

PTEN depletion rescues axonal growth defect and improves survival in SMN-deficient motor neurons

Ke Ning, Carsten Drepper, Chiara F. Valori, +7

Human Molecular Genetics

CytoskeletonCellular NeurobiologySynaptic SignalingCellular PhysiologySocial Sciences +16

Isolation and enrichment of embryonic mouse motoneurons from the lumbar spinal cord of individual mouse embryos

Stefan Wiese, Thomas Herrmann, Carsten Drepper, +6

Nature Protocols

NeuroregenerationDevelopmental BiologyNeuroanatomyLumbar Spinal CordIndividual Mouse Embryos +9