NDPT026
96 WELL PLATE OF DNA SAMPLES
Description:
ALS PANEL: WHITES FROM NORTH AMERICA,BULBAR ONSET
Aliquot Size:
5 µg each
Sex:
Males: 39 Females: 53
Brief Description:
This panel contains 5 micrograms of DNA from 92 unique and unrelated White individuals with sporadic amyotrophic lateral sclerosis (ALS). These include 39 males and 53 females from North America. The age of ALS onset ranges from 40 years to 87 years. This was defined as when symptom(s) of ALS were first noted (including at least one: lower motor neuron signs (LMN) including weakness, atrophy, fasciculations; upper motor neuron (UMN) signs including spasticity, pathologic spread of reflexes, clonus, etc). Subjects represented on NDPT026 met the El Escorial criteria for definite, and were banked less than or equal to 6 years since ALS onset. A more detailed description is also available.
Plate Layout:
The specific position on the plates has been optimized to reduce any possible errors in sample identity during the genotyping process.
Abramzon Y, Johnson JO, Scholz SW, Taylor JP, Brunetti M, Calvo A, Mandrioli J, Benatar M, Mora G, Restagno G, Chiò A, Traynor BJ, Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis Neurobiology of aging33:2231.e1-6 2012 |
PubMed ID: 22572540 |
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Lee T, Li YR, Chesi A, Hart MP, Ramos D, Jethava N, Hosangadi D, Epstein J, Hodges B, Bonini NM, Gitler AD, Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis Neurology76:2062-5 2011 |
PubMed ID: 21562248 |
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Lai SL, Abramzon Y, Schymick JC, Stephan DA, Dunckley T, Dillman A, Cookson M, Calvo A, Battistini S, Giannini F, Caponnetto C, Mancardi GL, Spataro R, Monsurro MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Lombardo F; the ITALSGEN Consortium, Mora G, Restagno G, Chiò A, Traynor BJ.
, FUS mutations in sporadic amyotrophic lateral sclerosis Neurobiology of Aging32(3):550.e1-4 2010 |
PubMed ID: 20138404 |
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Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ, A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis Human molecular genetics18:1524-32 2009 |
PubMed ID: 19193627 |
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Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH, Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS American journal of human genetics84:85-8 2008 |
PubMed ID: 19118816 |
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