标题
The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues
作者
关键词
C9orf72, G4C2, FTLD, FTD, ALS, FTD/ALS, Southern blot, rpPCR, MRI
出版物
ACTA NEUROPATHOLOGICA
Volume 127, Issue 3, Pages 319-332
出版商
Springer Nature
发表日期
2014-02-10
DOI
10.1007/s00401-014-1253-7
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- Mechanisms of toxicity in C9FTLD/ALS
- (2014) Tania F. Gendron et al. ACTA NEUROPATHOLOGICA
- Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72
- (2013) Melissa E. Murray et al. ACTA NEUROPATHOLOGICA
- Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
- (2013) Pietro Fratta et al. ACTA NEUROPATHOLOGICA
- Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
- (2013) Jon Beck et al. AMERICAN JOURNAL OF HUMAN GENETICS
- C9ORF72Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease
- (2013) Karen Nuytemans et al. ANNALS OF HUMAN GENETICS
- Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis
- (2013) Susan Byrne et al. ANNALS OF NEUROLOGY
- The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
- (2013) Timothy P. Levine et al. BIOINFORMATICS
- Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation
- (2013) Daniela Galimberti et al. BIOLOGICAL PSYCHIATRY
- C9orf72 repeat expansions are a rare genetic cause of parkinsonism
- (2013) Suzanne Lesage et al. BRAIN
- Psychosis and Hallucinations in Frontotemporal Dementia with the C9ORF72 Mutation
- (2013) Andrew Kertesz et al. Cognitive and Behavioral Neurology
- Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability
- (2013) Karen N McFarland et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures
- (2013) Kaalak Reddy et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Pathophysiological insights into ALS with C9ORF72 expansions
- (2013) K. L. Williams et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study
- (2013) Marka van Blitterswijk et al. LANCET NEUROLOGY
- Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation
- (2013) Vladimir L Buchman et al. Molecular Neurodegeneration
- Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study
- (2013) Sarah Debray et al. NEUROBIOLOGY OF AGING
- C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment
- (2013) Rita Cacace et al. NEUROBIOLOGY OF AGING
- Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis
- (2013) Matthew B. Harms et al. NEUROBIOLOGY OF AGING
- Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat
- (2013) Ashley R. Jones et al. NEUROBIOLOGY OF AGING
- Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients
- (2013) Afagh Alavi et al. NEUROBIOLOGY OF AGING
- C9orf72 repeat expansions are restricted to the ALS-FTD spectrum
- (2013) Nicola Ticozzi et al. NEUROBIOLOGY OF AGING
- Multiparametric MRI study of ALS stratified for the C9orf72 genotype
- (2013) P. Bede et al. NEUROLOGY
- C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles
- (2013) J. Cooper-Knock et al. NEUROLOGY
- C9ORF72 expansions, parkinsonism, and Parkinson disease: A clinicopathologic study
- (2013) J. Cooper-Knock et al. NEUROLOGY
- C9ORF72 repeat expansions in cases with previously identified pathogenic mutations
- (2013) M. van Blitterswijk et al. NEUROLOGY
- C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration
- (2013) E. Gomez-Tortosa et al. NEUROLOGY
- A pathogenicprogranulinmutation andC9orf72repeat expansion in a family with frontotemporal dementia
- (2013) Tammaryn Lashley et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients
- (2013) Carol Dobson-Stone et al. PLoS One
- Can ALS-Associated C9orf72 Repeat Expansions Be Diagnosed on a Blood DNA Test Alone?
- (2013) Roger Pamphlett et al. PLoS One
- Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
- (2013) Marc Cruts et al. TRENDS IN NEUROSCIENCES
- C9orf72 repeat expansions are not detected in Chinese patients with familial ALS
- (2013) Rong Liu et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Frontotemporal dementia with amyotrophic lateral sclerosis: A clinical comparison of patients with and without repeat expansions inC9orf72
- (2013) Julie S. Snowden et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: Findings in an Italian cohort of patients with Parkinsonian syndromes and relevance for genetic counselling
- (2013) Paola Origone et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Distinct Clinical Characteristics of C9orf72 Expansion Carriers Compared With GRN, MAPT, and Nonmutation Carriers in a Flanders-Belgian FTLD Cohort
- (2013) Tim Van Langenhove et al. JAMA Neurology
- C9orf72 Hexanucleotide Repeat Expansions in Clinical Alzheimer Disease
- (2013) Matthew Harms et al. JAMA Neurology
- Development and Validation of Pedigree Classification Criteria for Frontotemporal Lobar Degeneration
- (2013) Elisabeth M. Wood et al. JAMA Neurology
- Neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansions
- (2013) Muireann Irish et al. NeuroImage-Clinical
- Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion
- (2012) Kevin F. Bieniek et al. ACTA NEUROPATHOLOGICA
- Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant
- (2012) Andrew King et al. ACTA NEUROPATHOLOGICA
- Novel TARDBP Sequence Variant and C9ORF72 Repeat Expansion in a Family With Frontotemporal Dementia
- (2012) Anna-Lotta Kaivorinne et al. ALZHEIMER DISEASE & ASSOCIATED DISORDERS
- Investigation of C9orf72 in 4 Neurodegenerative Disorders
- (2012) Zhengrui Xi et al. ARCHIVES OF NEUROLOGY
- C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan
- (2012) Hiroyuki Ishiura et al. ARCHIVES OF NEUROLOGY
- Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
- (2012) A. Chio et al. BRAIN
- Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
- (2012) G.-Y. R. Hsiung et al. BRAIN
- Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
- (2012) Johnathan Cooper-Knock et al. BRAIN
- Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
- (2012) J. S. Snowden et al. BRAIN
- The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
- (2012) Javier Simón-Sánchez et al. BRAIN
- Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
- (2012) Bradley F. Boeve et al. BRAIN
- Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
- (2012) C. J. Mahoney et al. BRAIN
- Corticobasal and ataxia syndromes widen the spectrum ofC9ORF72hexanucleotide expansion disease
- (2012) SG Lindquist et al. CLINICAL GENETICS
- Lack of Genetic Association of the UCHL1 Gene with Alzheimer’s Disease and Parkinson’s Disease with Dementia
- (2012) Nobuto Shibata et al. DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
- The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder
- (2012) Bradley N Smith et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide
- (2012) Alberto García-Redondo et al. HUMAN MUTATION
- Phenotype difference between ALS patients with expanded repeats inC9ORF72and patients with mutations in other ALS-related genes
- (2012) Stéphanie Millecamps et al. JOURNAL OF MEDICAL GENETICS
- Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72
- (2012) T. Konno et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Cognitive decline and reduced survival inC9orf72expansion frontotemporal degeneration and amyotrophic lateral sclerosis
- (2012) David J Irwin et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study
- (2012) Susan Byrne et al. LANCET NEUROLOGY
- Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
- (2012) Elisa Majounie et al. LANCET NEUROLOGY
- C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism
- (2012) Seán O'Dowd et al. MOVEMENT DISORDERS
- C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population
- (2012) Mario Sabatelli et al. NEUROBIOLOGY OF AGING
- Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia
- (2012) Oriol Dols-Icardo et al. NEUROBIOLOGY OF AGING
- Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis
- (2012) Kotaro Ogaki et al. NEUROBIOLOGY OF AGING
- C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
- (2012) Antonia Ratti et al. NEUROBIOLOGY OF AGING
- A potential impact of chronic Helicobacter pylori infection on Alzheimer's disease pathobiology and course
- (2012) Jannis Kountouras et al. NEUROBIOLOGY OF AGING
- Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease
- (2012) Sara Rollinson et al. NEUROBIOLOGY OF AGING
- Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians
- (2012) Martin A. Kohli et al. NEUROBIOLOGY OF AGING
- Parkinson disease is not associated with C9ORF72 repeat expansions
- (2012) Matthew B. Harms et al. NEUROBIOLOGY OF AGING
- C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts
- (2012) C. Dobson-Stone et al. NEUROLOGY
- Extensive genetics of ALS: A population-based study in Italy
- (2012) A. Chio et al. NEUROLOGY
- Frontotemporal dementia due to C9ORF72 mutations: Clinical and imaging features
- (2012) S. J. Sha et al. NEUROLOGY
- Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
- (2012) W. van Rheenen et al. NEUROLOGY
- Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis
- (2012) Roger Pamphlett et al. NEUROREPORT
- Repeat Expansion inC9ORF72in Alzheimer's Disease
- (2012) Elisa Majounie et al. NEW ENGLAND JOURNAL OF MEDICINE
- Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome
- (2012) Mariely DeJesus-Hernandez et al. PARKINSONISM & RELATED DISORDERS
- Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS
- (2012) Kotaro Ogaki et al. PARKINSONISM & RELATED DISORDERS
- C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
- (2012) Pietro Fratta et al. Scientific Reports
- Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions
- (2012) Colin J Mahoney et al. Alzheimers Research & Therapy
- Neuroimaging features of C9ORF72 expansion
- (2012) Jennifer S Yokoyama et al. Alzheimers Research & Therapy
- No GGGGCC-hexanucleotide repeat expansion inC9ORF72in parkinsonism patients in Sweden
- (2012) Chizuru Akimoto et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation
- (2012) Catarina Chester et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease
- (2011) Ammar Al-Chalabi et al. HUMAN HEREDITY
- 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
- 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
- Molecular and Clinical Characteristics of Myotonic Dystrophy Type 1 in Koreans
- (2009) So Yeon Kim et al. Korean Journal of Laboratory Medicine
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started