Dynamic expression of the mouse orthologue of the human amyotropic lateral sclerosis associated geneC9orf72during central nervous system development and neuronal differentiation

Olfactory dysfunction in behavioral variant frontotemporal dementia

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Patterns of regional cerebellar atrophy in genetic frontotemporal dementia

(2016) Martina Bocchetta et al.   NeuroImage-Clinical

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy

(2015) Johnathan Cooper-Knock et al.   ACTA NEUROPATHOLOGICA

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

(2015) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

(2015) Martin H. Schludi et al.   ACTA NEUROPATHOLOGICA

Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis

(2015) Shangxi Xiao et al.   ANNALS OF NEUROLOGY

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

(2015) Max Koppers et al.   ANNALS OF NEUROLOGY

Presenilin-1 familial Alzheimer’s disease mutation alters hippocampal neurogenesis and memory function in CCL2 null mice

(2015) Tomomi Kiyota et al.   BRAIN BEHAVIOR AND IMMUNITY

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration

(2015) Jorge Gomez-Deza et al.   Acta Neuropathologica Communications

C9ORF72 expression and cellular localization over mouse development

(2015) Rachel A K Atkinson et al.   Acta Neuropathologica Communications

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

Patterns of cerebral and cerebellar white matter degeneration in ALS: Figure 1

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

(2014) Adrian J. Waite et al.   NEUROBIOLOGY OF AGING

Cerebellar Integrity in the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia Continuum

(2014) Rachel H. Tan et al.   PLoS One

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

(2014) Yvonne S Davidson et al.   Acta Neuropathologica Communications

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

(2013) Timothy P. Levine et al.   BIOINFORMATICS

The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD

(2013) Naoki Suzuki et al.   NATURE NEUROSCIENCE

Multiparametric MRI study of ALS stratified for the C9orf72 genotype

(2013) P. Bede et al.   NEUROLOGY

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Hippocampal development – Old and new findings

(2013) R. Khalaf-Nazzal et al.   NEUROSCIENCE

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

(2013) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cellular and molecular basis of cerebellar development

(2013) Salvador Martinez et al.   Frontiers in Neuroanatomy

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

Olfactory Deficits in Frontotemporal Dementia as Measured by the Alberta Smell Test

(2013) Daniel J. Heyanka et al.   Applied Neuropsychology-Adult

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

(2013) David MA Mann et al.   Acta Neuropathologica Communications

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

(2012) Heather Stewart et al.   ACTA NEUROPATHOLOGICA

The molecular basis of the frontotemporal lobar degeneration–amyotrophic lateral sclerosis spectrum

(2012) Tim van Langenhove et al.   ANNALS OF MEDICINE

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

(2012) G.-Y. R. Hsiung et al.   BRAIN

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

(2012) J. L. Whitwell et al.   BRAIN

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia

(2012) Marka van Blitterswijk et al.   CURRENT OPINION IN NEUROLOGY

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

(2012) Pietro Fratta et al.   Scientific Reports

Assessment of psychiatric changes in C9ORF72 frontotemporal dementia

(2012) Michael Hornberger   Alzheimers Research & Therapy

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

(2012) Dapeng Zhang et al.   Frontiers in Genetics

DENN Domain Proteins: Regulators of Rab GTPases

(2011) Andrea L. Marat et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

(2011) Ilse Gijselinck et al.   LANCET NEUROLOGY

Adult hippocampal neurogenesis and its role in Alzheimer's disease

(2011) Yangling Mu et al.   Molecular Neurodegeneration

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

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

Olfactory Function in Corticobasal Syndrome and Frontotemporal Dementia

(2009) Matteo Pardini et al.   ARCHIVES OF NEUROLOGY

Rab GTPases as coordinators of vesicle traffic

(2009) Harald Stenmark   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

A central role for Islet1 in sensory neuron development linking sensory and spinal gene regulatory programs

(2008) Yunfu Sun et al.   NATURE NEUROSCIENCE

Frontotemporal lobar degeneration with ubiquitinated tau-negative inclusions and additional α-synuclein pathology but also unusual cerebellar ubiquitinated p62-positive, TDP-43-negative inclusions

(2008) Andrew King et al.   NEUROPATHOLOGY