Exome sequencing identifies FUS mutations as a cause of essential tremor.
暂无分享,去创建一个
G. Rouleau | J. Rivière | M. Panisset | A. Dionne‐Laporte | D. Spiegelman | S. Chouinard | S. Girard | J. Raelson | P. Dion | N. Merner | H. Catoire | Cynthia V. Bourassa | V. Belzil | P. Hince | A. Levert | A. Noreau | S. Diab | A. Szuto | Hélène Fournier | M. Belouchi | P. Cossette | N. Dupré | G. Bernard | Nancy D. Merner | Alexandre Dionne‐Laporte
[1] T. Kawano,et al. ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism , 2011, Human molecular genetics.
[2] E. Brustein,et al. FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis , 2011, PLoS genetics.
[3] Daniel F Tardiff,et al. A Yeast Model of FUS/TLS-Dependent Cytotoxicity , 2011, PLoS biology.
[4] Yudi Pawitan,et al. Revisiting Mendelian disorders through exome sequencing , 2011, Human Genetics.
[5] V. Meininger,et al. Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis , 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.
[6] D. Ito,et al. Nuclear transport impairment of amyotrophic lateral sclerosis‐linked mutations in FUS/TLS , 2011, Annals of neurology.
[7] P. A. Futreal,et al. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma , 2010, Nature.
[8] Sonja W. Scholz,et al. Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS , 2010, Neuron.
[9] Xin Jin,et al. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. , 2010, Brain : a journal of neurology.
[10] A. Ludolph,et al. Novel missense and truncating mutations in FUS/TLS in familial ALS , 2010, Neurology.
[11] W. Engel,et al. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia , 2010, Neurology.
[12] Emily H Turner,et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome , 2010, Nature Genetics.
[13] Jana Marie Schwarz,et al. MutationTaster evaluates disease-causing potential of sequence alterations , 2010, Nature Methods.
[14] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[15] E. Louis,et al. How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor , 2010, Movement disorders : official journal of the Movement Disorder Society.
[16] D. Cleveland,et al. TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. , 2010, Human molecular genetics.
[17] L. Honig,et al. "Hairy Baskets" Associated With Degenerative Purkinje Cell Changes in Essential Tremor , 2010, Journal of neuropathology and experimental neurology.
[18] K. Sleegers,et al. Genetic contribution of FUS to frontotemporal lobar degeneration , 2010, Neurology.
[19] P. Shannon,et al. Exome sequencing identifies the cause of a Mendelian disorder , 2009, Nature Genetics.
[20] T. Iwaki,et al. Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation , 2010, Acta Neuropathologica.
[21] S. Nelson,et al. BFAST: An Alignment Tool for Large Scale Genome Resequencing , 2009, PloS one.
[22] Günther Deuschl,et al. Essential tremor — Neurodegenerative or nondegenerative disease towards a working definition of ET , 2009, Movement disorders : official journal of the Movement Disorder Society.
[23] G. Comi,et al. Mutations of FUS gene in sporadic amyotrophic lateral sclerosis , 2009, Journal of Medical Genetics.
[24] V. Meininger,et al. Mutations in FUS cause FALS and SALS in French and French Canadian populations , 2009, Neurology.
[25] Ken Chen,et al. VarScan: variant detection in massively parallel sequencing of individual and pooled samples , 2009, Bioinform..
[26] A. Plaitakis,et al. Essential tremor in Parkinson's disease kindreds from a population of similar genetic background , 2009, Movement disorders : official journal of the Movement Disorder Society.
[27] H. Stefánsson,et al. Variant in the sequence of the LINGO1 gene confers risk of essential tremor , 2009, Nature Genetics.
[28] Xun Hu,et al. Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 , 2009, Science.
[29] 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 .
[30] Hao Deng,et al. Genetics of essential tremor. , 2007, Brain : a journal of neurology.
[31] J. Gusella,et al. Use of cyclosporin a in establishing epstein-barr virus-transformed human lymphoblastoid cell lines , 1984, In Vitro.
[32] Mark Hallett,et al. Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. , 2006, Brain : a journal of neurology.
[33] Samay Jain,et al. Common misdiagnosis of a common neurological disorder: how are we misdiagnosing essential tremor? , 2006, Archives of neurology.
[34] J. Jankovic,et al. A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. , 2006, Proceedings of the National Academy of Sciences of the United States of America.
[35] G. Crooks,et al. WebLogo: a sequence logo generator. , 2004, Genome research.
[36] Steven Henikoff,et al. SIFT: predicting amino acid changes that affect protein function , 2003, Nucleic Acids Res..
[37] D. Botstein,et al. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease , 2003, Nature Genetics.
[38] P. Bork,et al. Human non-synonymous SNPs: server and survey. , 2002, Nucleic acids research.
[39] R. Lührmann,et al. Symmetrical dimethylation of arginine residues in spliceosomal Sm protein B/B' and the Sm-like protein LSm4, and their interaction with the SMN protein. , 2001, RNA.
[40] C. Marsden,et al. Essential tremor: an overdiagnosed condition? , 2000, Journal of Neurology.
[41] D. D. de Rooij,et al. Male sterility and enhanced radiation sensitivity in TLS−/− mice , 2000, The EMBO journal.
[42] S Rozen,et al. Primer3 on the WWW for general users and for biologist programmers. , 2000, Methods in molecular biology.
[43] M. Brin,et al. Consensus Statement of the Movement Disorder Society on Tremor , 2008, Movement disorders : official journal of the Movement Disorder Society.
[44] H. Andrews,et al. Diagnostic criteria for essential tremor: a population perspective. , 1998, Archives of neurology.
[45] J. Higgins,et al. A gene (ETM) for essential tremor maps to chromosome 2p22‐p25 , 1997, Movement disorders : official journal of the Movement Disorder Society.
[46] H. Stefánsson,et al. Mapping of a familial essential tremor gene, FET1, to chromosome 3q13 , 1997, Nature Genetics.
[47] David Haussler,et al. Improved splice site detection in Genie , 1997, RECOMB '97.
[48] M. Carter,et al. A Regulatory Mechanism That Detects Premature Nonsense Codons in T-cell Receptor Transcripts in Vivo Is Reversed by Protein Synthesis Inhibitors in Vitro* , 1995, The Journal of Biological Chemistry.
[49] Arnold E. Aronson,et al. Rapid Voice Tremor, or “Flutter,” in Amyotrophic Lateral Sclerosis , 1992, The Annals of otology, rhinology, and laryngology.