Whole-genome analysis of sporadic amyotrophic lateral sclerosis

New England Journal of Medicine

Volumn 357, Issue 8, 2007, Pages 775-788

  Dunckley, Travis ^a   Huentelman, Matthew J ^a   Craig, David W ^a   Pearson, John V ^a   Szelinger, Szabolcs ^a   Joshipura, Keta ^a   Halperin, Rebecca F ^a   Stamper, Chelsea ^a   Jensen, Kendall R ^a   Letizia, David ^a   Hesterlee, Sharon E ^b   Pestronk, Alan ^c   Levine, Todd ^d   Bertorini, Tulio ^e   Graves, Michael C ^f   Mozaffar, Tahseen ^g   Jackson, Carlayne E ^h   Bosch, Peter ⁱ   McVey, April ^j   Dick, Arthur ^j   Barohn, Richard ^j   Lomen Hoerth, Catherine ^k   Rosenfeld, Jeffrey ^l   O'Connor, Daniel T ^m   Zhang, Kuixing ^m   Crook, Richard ⁿ   Ryberg, Henrik ^o   Hutton, Michael ⁿ   Katz, Jonathan ^p   Simpson, Ericka P ^q   Mitsumoto, Hiroshi ^r   Bowser, Robert ^o   Miller, Robert G ^p   Appel, Stanley H ^q   Stephan, Dietrich A ^a   more..

^a TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^b Muscular Dystrophy Association   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Phoenix Neurological Associates   (United States)

^e UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

ⁱ MAYO CLINIC   (United States)

^j UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l CAROLINAS MEDICAL CENTER   (United States)

^m UNIVERSITY OF CALIFORNIA   (United States)

ⁿ MAYO CLINIC   (United States)

^o UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^p CALIFORNIA PACIFIC MEDICAL CENTER   (United States)

^q HOUSTON METHODIST RESEARCH INSTITUTE   (United States)

^r NewYork Presbyterian Hospital   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CEREBROSPINAL FLUID; CONFIDENCE INTERVAL; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; FLJ10986 GENE; GENE; GENE LOCUS; GENE REPLICATION; GENETIC ANALYSIS; GENOMICS; GENOTYPE; HUMAN; IMMUNOBLOTTING; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RISK; SINGLE NUCLEOTIDE POLYMORPHISM; SPINAL CORD;

EID: 34548083742     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa070174     Document Type: Article

References (16)

1. Cleveland DW, Rothstein JD. From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS. Nat Rev Neurosci 2001;2:806-19.
2. Pasinelli P, Brown RH. Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat Rev Neurosci 2006;7:710-23.
3. Ince PG. Neuropathology. In: Brown RH Jr, Meininger K, Swash M, eds. Amyotrophic lateral sclerosis. London: Martin Dunitz, 2000:83-112.
4. Bruijn LI, Miller TM, Cleveland DW. Unraveling the mechanisms involved in motor neuron degeneration in ALS. Annu Rev Neurosci 2004;27:723-49.
5. Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1:293-9.
6. Reiman EM, Webster JA, Myers AJ, et al. GAB2 alleles modify Alzheimer's risk in APOE varepsilon4 carriers. Neuron 2007;54:713-20.
7. Schymick JC, Scholz SW, Fung HC, et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 2007;6:322-8.
8. Pearson JV, Huentelman MJ, Halperin RF, et al. Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotidepolymorphism association studies. Am J Hum Genet 2007;80:126-39.
9. Sasieni PD. From genotypes to genes: doubling the sample size. Biometrics 1997;53:1253-61.
10. Coleman PD, Yao PJ. Synaptic slaughter in Alzheimer's disease. Neurobiol Aging 2003;24:1023-7.
11. Frey D, Schneider C, Xu L, Borg J, Spooren W, Caroni P. Early and selective loss of neuromuscular synapse subtypes with low sprouting competence in motoneuron disease. J Neurosci 2000;20:2534-42.
12. Cifuentes-Diaz C, Nicole S, Velasco ME, et al. Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model. Hum Mol Genet 2002;11:1439-47.
13. Motegi A, Fujimoto J, Kotani M, Sakuraba H, Yamamoto T. ALK receptor tyrosine kinase promotes cell growth and neurite outgrowth. J Cell Sci 2004;117:3319-29.
14. Wang W, Stock RE, Gronostajski RM, Wong YW, Schachner M, Kilpatrick DL. A role for nuclear factor 1 in the intrinsic control of cerebellar granule neuron gene expression. J Biol Chem 2004;279:53491-7.
15. Mi R, Chen W, Höke A. Pleiotrophin is a neurotrophic factor for spinal motor neurons. Proc Natl Acad Sci U S A 2007;104:4664-9.
16. Wu DC, Ré DB, Nagai M, Ischiropoulos H, Przedborski S. The inflammatory NADPH oxidase enzyme modulates motor neuron degeneration in amyotrophic lateral sclerosis mice. Proc Natl Acad Sci U S A 2006;103:12132-7.