Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
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Bruce L. Miller | William W. Seeley | Adam L. Boxer | Giovanni Coppola | Ronald C. Petersen | Daniel H. Geschwind | David S. Knopman | Bradley F. Boeve | Howard Feldman | Dennis W. Dickson | Neill R. Graff-Radford | Zbigniew K. Wszolek | Keith A. Josephs | Ian R. Mackenzie | D. Geschwind | B. Miller | R. Petersen | B. Boeve | D. Knopman | H. Feldman | D. Dickson | W. Seeley | G. Coppola | A. Boxer | A. Karydas | G. Hsiung | Z. Wszolek | N. Graff-Radford | I. Mackenzie | M. Baker | J. Adamson | R. Rademakers | K. Josephs | N. Finch | N. Rutherford | M. Dejesus-Hernandez | P. Sengdy | N. Kouri | Aleksandra M. Wojtas | Matt Baker | Rosa Rademakers | Anna Karydas | K. Boylan | Alexandra M. Nicholson | H. Flynn | Jennifer Adamson | Mariely DeJesus-Hernandez | Naomi Kouri | Ging-Yuek R. Hsiung | Aleksandra Wojtas | NiCole A. Finch | Pheth Sengdy | Nicola J. Rutherford | Heather Flynn | Kevin B. Boylan | R. Rademakers | B. Miller | M. Dejesus‐Hernandez | B. Miller | Pheth Sengdy
[1] C. van Broeckhoven,et al. Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. , 2010, Archives of neurology.
[2] C. Duijn,et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 , 2006, Nature.
[3] C. Iadecola,et al. Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice , 2010, The Journal of experimental medicine.
[4] P. Jin,et al. RNA-Binding Proteins hnRNP A2/B1 and CUGBP1 Suppress Fragile X CGG Premutation Repeat-Induced Neurodegeneration in a Drosophila Model of FXTAS , 2007, Neuron.
[5] 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.
[6] B. Byrne,et al. Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy , 2000, The EMBO journal.
[7] P. Schofield,et al. Pedigree with frontotemporal lobar degeneration – motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9 , 2008, BMC neurology.
[8] J L Haines,et al. Supporting Online Material Materials and Methods Figs. S1 to S7 Tables S1 to S4 References Mutations in the Fus/tls Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis , 2022 .
[9] B. Boeve,et al. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family , 2010, Journal of Neurology, Neurosurgery & Psychiatry.
[10] H. Zoghbi,et al. Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10 , 2010, PLoS genetics.
[11] Catherine Lomen-Hoerth,et al. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia , 2002, Neurology.
[12] V. Meininger,et al. Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. , 2007, Archives of neurology.
[13] 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.
[14] E. Anderson. Hudson et al. , 1977 .
[15] S. Naylor,et al. Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9 , 2001, Science.
[16] Weimin Sun,et al. Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening , 2010, Genetics in Medicine.
[17] David E. Housman,et al. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member , 1992, Cell.
[18] N. Graff-Radford,et al. FRONTOTEMPORAL DEMENTIA , 2004, Seminars in neurology.
[19] R. Faber,et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. , 1999, Neurology.
[20] M. Nalls,et al. The chromosome 9 ALS and FTD locus is probably derived from a single founder , 2012, Neurobiology of Aging.
[21] D. Cleveland,et al. TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. , 2010, Human molecular genetics.
[22] David Heckerman,et al. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD , 2011, Neuron.
[23] E. Buratti,et al. TDP-43 Binds Heterogeneous Nuclear Ribonucleoprotein A/B through Its C-terminal Tail , 2005, Journal of Biological Chemistry.
[24] D. Hernandez,et al. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p , 2011, Journal of Neurology.
[25] Yuko Saito,et al. Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. , 2009, American journal of human genetics.
[26] C. Amemiya,et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. , 1992, Science.
[27] M. Cynader,et al. Progranulin deficiency leads to enhanced cell vulnerability and TDP-43 translocation in primary neuronal cultures , 2010, Brain Research.
[28] J. Haines,et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis , 1993, Nature.
[29] Bruce L. Miller,et al. Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis , 2006, Science.
[30] D. Nelson,et al. Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. , 2009, Future neurology.
[31] Peter K. Todd,et al. RNA‐mediated neurodegeneration in repeat expansion disorders , 2009, Annals of neurology.
[32] Orla Hardiman,et al. Cognitive impairment in amyotrophic lateral sclerosis , 2007, The Lancet Neurology.
[33] Koji Abe,et al. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. , 2011, American journal of human genetics.
[34] T. Ebner,et al. RNA Gain-of-Function in Spinocerebellar Ataxia Type 8 , 2009, PLoS genetics.
[35] Michael Q. Zhang,et al. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. , 2006, Human molecular genetics.
[36] K. Talbot,et al. The role of RNA processing in the pathogenesis of motor neuron degeneration , 2010, Expert Reviews in Molecular Medicine.
[37] David Heckerman,et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study , 2010, The Lancet Neurology.
[38] M. Freedman,et al. Frontotemporal lobar degeneration , 1998, Neurology.
[39] J. Trojanowski,et al. Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations , 2008, Acta Neuropathologica.
[40] M. J. Fresnadillo Martínez,et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions , 2010, Nature Genetics.
[41] Guy A Rouleau,et al. Genetics of familial and sporadic amyotrophic lateral sclerosis. , 2006, Biochimica et biophysica acta.
[42] P. Hagerman,et al. FMR1 RNA within the Intranuclear Inclusions of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) , 2004, RNA biology.
[43] L. Petrucelli,et al. Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging. , 2010, The American journal of pathology.
[44] S. Heath,et al. Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease , 2009, Neurology.
[45] Xun Hu,et al. Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 , 2009, Science.
[46] Jinhua Wang,et al. ESEfinder: a web resource to identify exonic splicing enhancers , 2003, Nucleic Acids Res..
[47] F. Baas,et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. , 2006, Brain : a journal of neurology.
[48] T. Ebner,et al. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8 , 2006, Nature Genetics.
[49] H. Horvitz,et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia , 2006, Neurology.
[50] B. Miller,et al. Are amyotrophic lateral sclerosis patients cognitively normal? , 2003, Neurology.
[51] M. Swanson,et al. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. , 1996, Nucleic acids research.
[52] Xun Hu,et al. TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis , 2008, Science.
[53] A. Naldi,et al. Dementia and cognitive impairment in amyotrophic lateral sclerosis: a review , 2011, Neurological Sciences.
[54] S. Melquist,et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 , 2006, Nature.
[55] J. Trojanowski,et al. Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations , 2007, Annals of neurology.
[56] B. McConkey,et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis , 2008, Nature Genetics.