Related references
Note: Only part of the references are listed.Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia
Alan Stepto et al.
ACTA NEUROPATHOLOGICA (2014)
The neuropathology associated with repeat expansions in the C9ORF72 gene
Ian R. A. Mackenzie et al.
ACTA NEUROPATHOLOGICA (2014)
Mechanisms of toxicity in C9FTLD/ALS
Tania F. Gendron et al.
ACTA NEUROPATHOLOGICA (2014)
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
Elaine Y. Liu et al.
ACTA NEUROPATHOLOGICA (2014)
Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients
Veronique V. Belzil et al.
BRAIN RESEARCH (2014)
Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not
John Hardy et al.
EXPERIMENTAL NEUROLOGY (2014)
Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients
Zhengrui Xi et al.
HUMAN MOLECULAR GENETICS (2014)
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking
Manal A. Farg et al.
HUMAN MOLECULAR GENETICS (2014)
Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD
Michael E. Ward et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2014)
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
Aaron R. Haeusler et al.
NATURE (2014)
Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
Adrian J. Waite et al.
NEUROBIOLOGY OF AGING (2014)
Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
Ian R. Mackenzie et al.
ACTA NEUROPATHOLOGICA (2013)
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Pietro Fratta et al.
ACTA NEUROPATHOLOGICA (2013)
Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood
Veronique V. Belzil et al.
ACTA NEUROPATHOLOGICA (2013)
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
Sandra Almeida et al.
ACTA NEUROPATHOLOGICA (2013)
Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion
Zhengrui Xi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
Jon Beck et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
Timothy P. Levine et al.
BIOINFORMATICS (2013)
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
Suzanne Lesage et al.
BRAIN (2013)
Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
Peter E. A. Ash et al.
NEURON (2013)
RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
Christopher J. Donnelly et al.
NEURON (2013)
Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C-elegans
Martine Therrien et al.
PLOS ONE (2013)
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
Kohji Mori et al.
SCIENCE (2013)
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
Marc Cruts et al.
TRENDS IN NEUROSCIENCES (2013)
Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion
Elizabeth A. Coon et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2013)
Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p
Heather Stewart et al.
ACTA NEUROPATHOLOGICA (2012)
Investigation of C9orf72 in 4 Neurodegenerative Disorders
Zhengrui Xi et al.
ARCHIVES OF NEUROLOGY (2012)
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
Adriano Chio et al.
BRAIN (2012)
Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
Ging-Yuek R. Hsiung et al.
BRAIN (2012)
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
Johnathan Cooper-Knock et al.
BRAIN (2012)
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
Julie S. Snowden et al.
BRAIN (2012)
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
Javier Simon-Sanchez et al.
BRAIN (2012)
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
Bradley F. Boeve et al.
BRAIN (2012)
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
Colin J. Mahoney et al.
BRAIN (2012)
A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect
Duvinh Tran et al.
JOURNAL OF CELL SCIENCE (2012)
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
Ilse Gijselinck et al.
LANCET NEUROLOGY (2012)
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
Nicola J. Rutherford et al.
NEUROBIOLOGY OF AGING (2012)
Repeat Expansion in C9ORF72 in Alzheimer's Disease
Elisa Majounie et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Dystrophic neurites express C9orf72 in Alzheimer's disease brains
Jun-ichi Satoh et al.
ALZHEIMERS RESEARCH & THERAPY (2012)
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
Melissa E. Murray et al.
ACTA NEUROPATHOLOGICA (2011)
Conjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUS
Daisuke Ito et al.
NEUROLOGY (2011)
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez et al.
NEURON (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration
Agnes L. Nishimura et al.
BRAIN (2010)
Altered distributions of nucleocytoplasmic transport-related proteins in the spinal cord of a mouse model of amyotrophic lateral sclerosis
Jianhua Zhang et al.
ACTA NEUROPATHOLOGICA (2006)
El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis
BR Brooks et al.
AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS (2000)
Share Paper
