C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment

[1]  J. Gilbert,et al.  Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians , 2013, Neurobiology of Aging.

[2]  P. Johannsen,et al.  Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease , 2013, Clinical genetics.

[3]  P. S. St George-Hyslop,et al.  Investigation of c9orf72 in 4 neurodegenerative disorders. , 2012, Archives of neurology.

[4]  F. Jessen,et al.  A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats , 2012, Human mutation.

[5]  J. Satoh,et al.  Dystrophic neurites express C9orf72 in Alzheimer's disease brains , 2012, Alzheimer's Research & Therapy.

[6]  J. Reisch,et al.  Implication of common and disease specific variants in CLU, CR1, and PICALM , 2012, Neurobiology of Aging.

[7]  D. Neary,et al.  Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease , 2012, Neurobiology of Aging.

[8]  Pietro Pietrini,et al.  Screening for C9ORF72 repeat expansion in FTLD , 2012, Neurobiology of Aging.

[9]  Janel O. Johnson,et al.  Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study , 2012, The Lancet Neurology.

[10]  D. Geschwind,et al.  Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion , 2012, Journal of Neurology, Neurosurgery & Psychiatry.

[11]  F. Marrosu,et al.  Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. , 2012, Brain : a journal of neurology.

[12]  D. Neary,et al.  Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. , 2012, Brain : a journal of neurology.

[13]  Nick C Fox,et al.  Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features , 2012, Alzheimer's & Dementia.

[14]  David T. Jones,et al.  Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72 , 2012, Brain : a journal of neurology.

[15]  S. Pereson,et al.  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 , 2012, The Lancet Neurology.

[16]  A. Singleton,et al.  Repeat expansion in C9ORF72 in Alzheimer's disease. , 2012, The New England journal of medicine.

[17]  A. Eisen,et al.  Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p , 2012, Acta Neuropathologica.

[18]  T. Ferman,et al.  Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72 , 2011, Acta Neuropathologica.

[19]  David Heckerman,et al.  A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD , 2011, Neuron.

[20]  Bruce L. Miller,et al.  Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS , 2011, Neuron.

[21]  David Heckerman,et al.  Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study , 2010, The Lancet Neurology.

[22]  K. Sleegers,et al.  Follow-up study of susceptibility loci for Alzheimer's disease and onset age identified by genome-wide association. , 2010, Journal of Alzheimer's disease : JAD.

[23]  Ewout J N Groen,et al.  Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis , 2009, Nature Genetics.

[24]  K. Taylor,et al.  Genome-Wide Association , 2007, Diabetes.

[25]  K. Sleegers,et al.  Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family. , 2007, Archives of neurology.

[26]  P. Deyn,et al.  Dose dependent effect of APOE ɛ4 on behavioral symptoms in frontal lobe dementia , 2006, Neurobiology of Aging.

[27]  C. van Broeckhoven,et al.  novoSNP, a novel computational tool for sequence variation discovery. , 2005, Genome research.

[28]  R. Petersen.  Mild cognitive impairment as a diagnostic entity , 2004, Journal of internal medicine.

[29]  A. Goate,et al.  Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe , 2003, Human mutation.

[30]  C. Broeckhoven,et al.  Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme , 2003, Journal of medical genetics.

[31]  M. Folstein,et al.  Clinical diagnosis of Alzheimer's disease , 1984, Neurology.

[32]  S. Folstein,et al.  “Mini-mental state”: A practical method for grading the cognitive state of patients for the clinician , 1975 .

[33]  N. Bresolin,et al.  Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations. , 2012, Journal of Alzheimer's disease : JAD.

[34]  J. Pariente,et al.  Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers. , 2012, Journal of Alzheimer's disease : JAD.

[35]  A. Farmer,et al.  Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study , 2010, The Lancet Neurology.