A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
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David Heckerman | Lorne Zinman | Joanne Wuu | Michael Benatar | Can Alkan | Sonja W. Scholz | Adriano Chiò | Richard W. Orrell | Veli-Matti Isoviita | Evan E. Eichler | John Hardy | Yevgeniya Abramzon | Jennifer C. Schymick | Mario Sabatelli | Gabriella Restagno | Bryan J. Traynor | Michael Sendtner | Alan E. Renton | Peter Heutink | Anne M. Remes | Kate Young | Jeffrey D. Rothstein | Elina Ikonen | Huw R. Morris | Ekaterina Rogaeva | John C. van Swieten | Mina Ryten | Maarit Hölttä-Vuori | Janel O. Johnson | David Mann | Sara Rollinson | D. Heckerman | D. Hernandez | M. Nalls | E. Eichler | C. Alkan | A. Paetau | T. Peuralinna | A. Dutra | J. Hardy | D. Neary | N. Williams | D. Mann | R. Guerreiro | A. Chiò | B. Traynor | E. Ikonen | S. Rollinson | M. Benatar | J. Wuu | R. Orrell | J. Rothstein | I. Jansen | M. Ryten | P. Heutink | E. Rogaeva | R. Sulkava | A. Richardson | S. Scholz | J. Simón‐Sánchez | J. R. Gibbs | J. Schymick | H. Morris | L. Zinman | A. Renton | E. Majounie | J. Pearson | M. Sendtner | A. Kaganovich | S. Pickering-Brown | J. Swieten | P. Tienari | H. Kalimo | D. Blake | Z. Abdullaev | H. Seelaar | J. Neal | A. Gerhard | G. Restagno | Jinhui Ding | M. Sabatelli | A. Remes | H. Laaksovirta | David Sondervan | D. Harmer | K. Mok | J. Snowden | C. Drepper | L. Myllykangas | Dena G. Hernandez | Michael A. Nalls | Stuart Pickering-Brown | David Neary | A. Waite | Yevgeniya A Abramzon | J. Duckworth | D. Trabzuni | A. Murray | K. Young | Nicola A. Halliwell | J. Callister | G. Toulson | Lilja Jansson | Veli-Matti Isoviita | Anna-Lotta Kaivorinne | M. Hölttä-Vuori | G. Borghero | S. Pack | E. Pak | A. Singleton | Hannu Laaksovirta | Terhi Peuralinna | Liisa Myllykangas | Raimo Sulkava | Lilja Jansson | Amalia Dutra | Evgenia Pak | Anders Paetau | Hannu Kalimo | Carsten Drepper | Anna Richardson | Harro Seelaar | Iris E. Jansen | Alex Gerhard | Pentti J. Tienari | Elisa Majounie | Giuseppe Borghero | Nigel M. Williams | J. Raphael Gibbs | Andrew Singleton | Jinhui Ding | Justin Pearson | Javier Simón-Sánchez | Kin Mok | David Sondervan | Rita J. Guerreiro | Adrian Waite | Alice Kaganovich | Jamie Duckworth | Daniel W. Harmer | Danyah Trabzuni | James Neal | Alex Murray | Derek Blake | Nicola Halliwell | Janis Bennion Callister | Greg Toulson | Julie Snowden | Anna-Lotta Kaivorinne | Ziedulla Abdullaev | Svetlana D. Pack | Kate Young | Yevgeniya A. Abramzon | J. Simón-Sánchez | Jennifer Schymick | Alice Kaganovich | J. Hardy | Hannu Laaksovirta
[1] I. Mackenzie,et al. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia , 2010, The Lancet Neurology.
[2] D. Goudie,et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. , 1996, Journal of medical genetics.
[3] A. Kaplin,et al. HOW COMMON ARE THE “COMMON” NEUROLOGIC DISORDERS? , 2007, Neurology.
[4] A. Chiò,et al. Prevalence of SOD1 mutations in the Italian ALS population , 2008, Neurology.
[5] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[6] D. Hernandez,et al. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p , 2011, Journal of Neurology.
[7] Bruce L. Miller,et al. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS , 2011, Neuron.
[8] David Heckerman,et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study , 2010, The Lancet Neurology.
[9] Lin Jin,et al. Aberrant RNA Processing in a Neurodegenerative Disease: the Cause for Absent EAAT2, a Glutamate Transporter, in Amyotrophic Lateral Sclerosis , 1998, Neuron.
[10] K. Kidd,et al. Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization , 1996, Nature Genetics.
[11] Thomas Liehr,et al. Fluorescence In Situ Hybridization (FISH) — Application Guide , 2009, Springer Berlin Heidelberg.
[12] Xun Hu,et al. Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 , 2009, Science.
[13] L. Rowland,et al. Amyotrophic Lateral Sclerosis , 1980, Neurology.
[14] A. Ramasamy,et al. Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies , 2011, Journal of neurochemistry.
[15] D. Thurman,et al. How common are the “common” neurologic disorders? , 2007, Neurology.
[16] 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.
[17] P. Espenshade,et al. Transport-Dependent Proteolysis of SREBP Relocation of Site-1 Protease from Golgi to ER Obviates the Need for SREBP Transport to Golgi , 1999, Cell.
[18] H. Horvitz,et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia , 2006, Neurology.
[19] J. Haines,et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis , 1993, Nature.
[20] 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.
[21] Jonathan Scott Friedlaender,et al. A Human Genome Diversity Cell Line Panel , 2002, Science.
[22] 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 .
[23] B. Boeve,et al. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family , 2010, Journal of Neurology, Neurosurgery & Psychiatry.
[24] Helga Thorvaldsdóttir,et al. Integrative Genomics Viewer , 2011, Nature Biotechnology.
[25] 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.
[26] Patrizia Sola,et al. Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS , 2011, Neuron.
[27] M. J. Fresnadillo Martínez,et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions , 2010, Nature Genetics.
[28] M. Nalls,et al. The chromosome 9 ALS and FTD locus is probably derived from a single founder , 2012, Neurobiology of Aging.
[29] Marzena Wojciechowska,et al. Cellular toxicity of expanded RNA repeats: focus on RNA foci , 2011, Human molecular genetics.
[30] Manuel A. R. Ferreira,et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.
[31] J. Hodges,et al. Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders , 2009, Journal of Clinical Neuroscience.
[32] Xun Hu,et al. TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis , 2008, Science.
[33] D. Cleveland,et al. TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. , 2010, Human molecular genetics.
[34] Takeo Kato,et al. Mutations of optineurin in amyotrophic lateral sclerosis , 2010, Nature.
[35] 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.
[36] Bruce L. Miller,et al. Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis , 2006, Science.