(Q38060527)

English

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

scientific article published on December 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

28 August 2017

1 reference

Europe PubMed Central

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? (English)

1 reference

Europe PubMed Central

PMC publication ID

28 August 2017

amyotrophic lateral sclerosis and frontotemporal dementia

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amyotrophic lateral sclerosis

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frontotemporal dementia

1 reference

based on heuristic

inferred from title

Marka van Blitterswijk

1

object named as

Marka van Blitterswijk

0 references

Mariely DeJesus-Hernandez

2

object named as

Mariely DeJesus-Hernandez

0 references

Rosa Rademakers

3

object named as

Rosa Rademakers

1 reference

Europe PubMed Central

PMC publication ID

28 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 December 2012

1 reference

Europe PubMed Central

PMC publication ID

28 August 2017

Current Opinion in Neurology

1 reference

Europe PubMed Central

PMC publication ID

28 August 2017

25

1 reference

Europe PubMed Central

PMC publication ID

28 August 2017

6

1 reference

Europe PubMed Central

PMC publication ID

28 August 2017

689-700

1 reference

Europe PubMed Central

PMC publication ID

28 August 2017

Advances in understanding the molecular basis of frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Brain pathology of spinocerebellar ataxias

1 reference

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6 September 2017

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Screening for C9ORF72 repeat expansion in FTLD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

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6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Genetics of the dominant ataxias

1 reference

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6 September 2017

Genetics of dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Repeat expansion in C9ORF72 in Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Phenotypic signatures of genetic frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Gain of RNA function in pathological cases: Focus on myotonic dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement

1 reference

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6 September 2017

Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics

1 reference

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6 September 2017

Ataxin-2 repeat-length variation and neurodegeneration

1 reference

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6 September 2017

Therapeutics development in myotonic dystrophy type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Classification of primary progressive aphasia and its variants

1 reference

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6 September 2017

FTD and ALS: a tale of two diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Dementia and cognitive impairment in amyotrophic lateral sclerosis: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

The expanding world of myotonic dystrophies: how can they be detected?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10

1 reference

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6 September 2017

Roles of trinucleotide-repeat RNA in neurological disease and degeneration.

1 reference

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6 September 2017

RNA-mediated neurodegeneration in repeat expansion disorders

1 reference

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6 September 2017

A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Repeat expansion disease: progress and puzzles in disease pathogenesis

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6 September 2017

The myotonic dystrophies: diagnosis and management

1 reference

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6 September 2017

RNA gain-of-function in spinocerebellar ataxia type 8.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders

1 reference

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6 September 2017

Bulbar and spinal muscular atrophy (Kennedy's disease): a review

1 reference

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6 September 2017

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

The role of the polyglutamine tract in androgen receptor.

1 reference

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6 September 2017

Cognitive impairment in amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Myotonic dystrophy: RNA-mediated muscle disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Trinucleotide Repeat Disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

RNA-mediated neuromuscular disorders

1 reference

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6 September 2017

ARX: a gene for all seasons

1 reference

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6 September 2017

Genetics of familial and sporadic amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

6 September 2017

Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease

1 reference

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6 September 2017

Are amyotrophic lateral sclerosis patients cognitively normal?

1 reference

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6 September 2017

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

1 reference

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6 September 2017

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

1 reference

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6 September 2017

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

1 reference

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6 September 2017

Trinucleotide repeat length instability and age of onset in Huntington's disease

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6 September 2017

Allelic instability in mitosis: a unified model for dominant disorders

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6 September 2017

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

1 reference

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6 September 2017

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

1 reference

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6 September 2017

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

1 reference

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6 September 2017

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.

1 reference

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6 September 2017

Anticipation in myotonic dystrophy: new light on an old problem

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6 September 2017

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

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6 September 2017

Incidence, severity, and time-course of motoneurone dysfunction in myotonic dystrophy: their significance for an understanding of anticipation

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6 September 2017

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

14 September 2017

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

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14 September 2017

Molecular genetics of Huntington's disease

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28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

23 June 2018

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

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23 June 2018

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

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23 June 2018

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.

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23 June 2018

Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis

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23 June 2018

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n

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23 June 2018

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

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23 June 2018

A general method for the detection of large CAG repeat expansions by fluorescent PCR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

23 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Case control analysis of repeat expansion size in ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Frontotemporal dementia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Frequency and stability of the myotonic dystrophy type 1 premutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Anticipating anticipation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

5 November 2018

Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

3 December 2018

Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

3 December 2018

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923493

3 December 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening of OPTN in French familial amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spinocerebellar ataxias

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

(CTG)n expansions in various tissues from a myotonic dystrophy patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unstable DNA sequence in myotonic dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160421

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1097/WCO.0B013E32835A3EFB

1 reference

Europe PubMed Central

PMC publication ID

28 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

28 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

28 August 2017

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