(Q38128241)

29 August 2017

C9ORF72 mutations in neurodegenerative diseases (English)

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29 August 2017

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2

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29 August 2017

5

Lan Tan

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29 August 2017

Ying Liu

1

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29 August 2017

Yu Zong

series ordinal

3

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29 August 2017

Jing Zhou

series ordinal

4

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29 August 2017

10 August 2013

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29 August 2017

Molecular Neurobiology

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29 August 2017

49

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29 August 2017

1

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29 August 2017

386-398

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https://scigraph.springernature.com/pub.10.1007/s12035-013-8528-1

29 August 2017

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cites work

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Dystrophic neurites express C9orf72 in Alzheimer's disease brains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Ultrastructure of ubiquitin-positive, TDP-43-negative neuronal inclusions in cerebral cortex of C9ORF72-linked frontotemporal lobar degeneration/amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

ApoE and TDP-43 neuropathology in two siblings with familial FTLD-motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Extensive genetics of ALS: a population-based study in Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

C9ORF72 repeat expansions not detected in a group of patients with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Repeat expansion in C9ORF72 in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Investigation of c9orf72 in 4 neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Chromosome 9 ALS and FTD locus is probably derived from a single founder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Cognitive and behavioral features of c9FTD/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Phenotypic signatures of genetic frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Evaluation of subcortical pathology and clinical correlations in FTLD-U subtypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Impaired self-other differentiation in frontotemporal dementia due to the C9ORF72 expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Recent advances in the genetics of the ALS-FTLD complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Suicide attempt as the presenting symptom of C9orf72 dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Transcranial stimulation for psychosis: the relationship between effect size and published findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Screening for C9orf72 repeat expansions in parkinsonian syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Investigation of C9orf72 repeat expansions in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Using human pluripotent stem cells to study post-transcriptional mechanisms of neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8528-1

Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes

21 January 2018

1 reference

12 December 2020

Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene

1 reference

12 December 2020

Parkinson disease is not associated with C9ORF72 repeat expansions

1 reference

12 December 2020

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation

1 reference

12 December 2020

C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration

1 reference

12 December 2020

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

1 reference

12 December 2020

Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS

1 reference

12 December 2020

Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations.

1 reference

12 December 2020

Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease.

1 reference

12 December 2020

Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

1 reference

12 December 2020

Brain ¹⁸F-FDG and ¹¹C-PiB PET findings in two siblings with FTD/ALS associated with the C9ORF72 repeat expansion.

1 reference

12 December 2020

High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.

1 reference

12 December 2020

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing

1 reference

12 December 2020

Screening for C9ORF72 repeat expansion in FTLD.

1 reference

12 December 2020

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

1 reference

12 December 2020

The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome

1 reference

12 December 2020

Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers.

1 reference

12 December 2020

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia

1 reference

12 December 2020

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

1 reference

12 December 2020

10.1007/S12035-013-8528-1

Identifiers

DOI

1 reference

Dimensions Publication ID

29 August 2017

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1 reference