Amyotrophic Lateral Sclerosis: An Emerging Era of Collaborative Gene Discovery
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A. Singleton | J. Ostell | Robert H. Brown | J. Hardy | R. Conwit | L. Bruijn | B. Traynor | M. Cudkowicz | M. Mailman | S. Rich | H. Mitsumoto | Robert G. Miller | R. Corriveau | K. Gwinn | P. Gordon | P. Kaufmann | E. Kasarskis | A. Sherman | R. Tandan | E. Sorenson | K. Bednarz | Josefina Nash | V. Cwik | L. Refolo | J. Andrews | Ran Zhang | Margaret A. Keller | Robert H. Brown | J. Hardy
[1] Simon C. Potter,et al. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls , 2007, Nature.
[2] Sonja W. Scholz,et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data , 2007, The Lancet Neurology.
[3] Orla Hardiman,et al. The complex genetics of amyotrophic lateral sclerosis , 2007, The Lancet Neurology.
[4] D. Thurman,et al. How common are the “common” neurologic disorders? , 2007, Neurology.
[5] Sonja W. Scholz,et al. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. , 2007, Human molecular genetics.
[6] R. Conwit,et al. Preventing familial ALS: A clinical trial may be feasible but is an efficacy trial warranted? , 2006, Journal of the Neurological Sciences.
[7] Sonja W. Scholz,et al. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data , 2006, The Lancet Neurology.
[8] Johanna M Seddon,et al. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration , 2006, Nature Genetics.
[9] S. Ennis,et al. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis , 2006, Nature Genetics.
[10] P. Kaufmann,et al. ALS Research Group (ALSRG): Second meeting, a summary report , 2006, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.
[11] Lyle J Palmer,et al. Genetic Epidemiology 4 Shaking the tree : mapping complex disease genes with linkage disequilibrium , 2022 .
[12] Peter M Andersen,et al. Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[13] James Ostell. Databases of Discovery , 2005, ACM Queue.
[14] A. Chiò,et al. Severely increased risk of amyotrophic lateral sclerosis among Italian professional football players. , 2005, Brain : a journal of neurology.
[15] D. Clayton,et al. Genome-wide association studies: theoretical and practical concerns , 2005, Nature Reviews Genetics.
[16] S. Ennis,et al. A novel candidate region for ALS on chromosome 14q11.2 , 2004, Neurology.
[17] T. Gillingwater,et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. , 2004, American journal of human genetics.
[18] A. Ludolph,et al. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS , 2004, Neurology.
[19] John W Griffin,et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). , 2004, American journal of human genetics.
[20] G. Nogales-Gadea,et al. A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance , 2004, Journal of the Neurological Sciences.
[21] A. Kertesz. A frontotemporal family bridge. , 2004, Archives of neurology.
[22] M. Weiner,et al. 17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions. , 2004, Archives of neurology.
[23] Toshihiro Tanaka. The International HapMap Project , 2003, Nature.
[24] N. Siddique,et al. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy , 2003, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.
[25] Andrew Fraser. Worms in L.A. , 2003, Nature Genetics.
[26] J. Haines,et al. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. , 2003, American journal of human genetics.
[27] Shin J. Oh,et al. Mutant dynactin in motor neuron disease , 2003, Nature Genetics.
[28] D. Botstein,et al. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease , 2003, Nature Genetics.
[29] M. Vila,et al. Series Introduction: Neurodegeneration: What is it and where are we? , 2003 .
[30] Robert H. Brown,et al. A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. , 2002, American journal of human genetics.
[31] Harold Varmus,et al. Genomic empowerment: the importance of public databases , 2002, Nature Genetics.
[32] Mark A. Levenstien,et al. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. , 2001, Molecular genetics and metabolism.
[33] M Gwinn,et al. Informed consent for population-based research involving genetics. , 2001, JAMA.
[34] Jeffrey D. Rothstein,et al. From charcot to lou gehrig: deciphering selective motor neuron death in als , 2001, Nature Reviews Neuroscience.
[35] M. Pericak-Vance,et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis , 2001, Nature Genetics.
[36] S. Scherer,et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 , 2001, Nature Genetics.
[37] K. Abe,et al. A novel SOD1 gene mutation in familial ALS with low penetrance in females , 2001, Journal of the Neurological Sciences.
[38] M. Daly,et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms , 2001, Nature.
[39] S. Hadano,et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 , 2001, Nature Genetics.
[40] J. Mitchell. Guidelines in motor neurone disease (MND)/amyotrophic lateral sclerosis (ALS) – from diagnosis to patient care , 2000, Journal of Neurology.
[41] J. Haines,et al. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. , 2000, JAMA.
[42] M. Swash,et al. El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis , 2000, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.
[43] M. Swash,et al. Consensus guidelines for the design and implementation of clinical trials in ALS , 1999, Journal of the Neurological Sciences.
[44] M. Pericak-Vance,et al. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers , 1998, Neurogenetics.
[45] K. Wilhelmsen,et al. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. , 1994, American journal of human genetics.
[46] J. Haines,et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis , 1993, Nature.
[47] H J Bennett,et al. How common is common? , 1991, Southern medical journal.
[48] S. Mellgren,et al. Familial amyotrophic lateral sclerosis , 1980 .
[49] G. de‐Thé,et al. Lymphoblastoid transformation and kinetics of appearance of viral nuclear antigen (EBNA) in cord‐blood lymphocytes infected by epstein‐barr virus (EBV) , 1975, International journal of cancer.
[50] D. E. Szilagyi. HENRY FORD HOSPITAL. , 1965, Medical times.