Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
Kwiatkowski, T.J. Jr, Bosco, D.A, LeClerc, A.L, Tamrazian, E, Vanderburg, C.R, Russ, C, Davis, A, Gilchrist, J, Kasarskis, E.J, Munsat, T, Valdmanis, P, Rouleau, G.A, Hosler, B.A, Cortelli, P, de Jong, P.J, Yoshinaga, Y, Haines, J.L, Pericak-Vance, M.A, Yan, J, Ticozzi, N, Siddique, T, McKenna-Yasek, D, Sapp, P.C, Horvitz, H.R, Landers, J.E, Brown, R.H. Jr
Published in Science (American Association for the Advancement of Science) (27.02.2009)
Published in Science (American Association for the Advancement of Science) (27.02.2009)
Get full text
Journal Article
Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort
Ticozzi, N, Silani, V, LeClerc, A L, Keagle, P, Gellera, C, Ratti, A, Taroni, F, Kwiatkowski, Jr, T J, McKenna-Yasek, D M, Sapp, P C, Brown, Jr, R H, Landers, J E
Published in Neurology (13.10.2009)
Published in Neurology (13.10.2009)
Get more information
Journal Article
Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis
Ticozzi, N., Vance, C., LeClerc, A.L., Keagle, P., Glass, J.D., McKenna-Yasek, D., Sapp, P.C., Silani, V., Bosco, D.A., Shaw, C.E., Brown Jr, R.H., Landers, J.E.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2011)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2011)
Get full text
Journal Article
New VAPB deletion variant and exclusion of VAPB mutations in familial ALS
Landers, J E, Leclerc, A L, Shi, L, Virkud, A, Cho, T, Maxwell, M M, Henry, A F, Polak, M, Glass, J D, Kwiatkowski, T J, Al-Chalabi, A, Shaw, C E, Leigh, P N, Rodriguez-Leyza, I, McKenna-Yasek, D, Sapp, P C, Brown, Jr, R H
Published in Neurology (01.04.2008)
Published in Neurology (01.04.2008)
Get more information
Journal Article
Survival in transgenic ALS mice does not vary with CNS glutathione peroxidase activity
Cudkowicz, M E, Pastusza, K A, Sapp, P C, Mathews, R K, Leahy, J, Pasinelli, P, Francis, J W, Jiang, D, Andersen, J K, Brown, Jr, R H
Published in Neurology (10.09.2002)
Published in Neurology (10.09.2002)
Get more information
Journal Article
Linkage of Familial Amyotrophic Lateral Sclerosis With Frontotemporal Dementia to Chromosome 9q21-q22
Hosler, Betsy A, Siddique, Teepu, Sapp, Peter C, Sailor, Wen, Huang, Michael C, Hossain, Anwar, Daube, Jasper R, Nance, Martha, Fan, Chaohong, Kaplan, Jocelyn, Hung, Wu-Yen, McKenna-Yasek, Diane, Haines, Jonathan L, Pericak-Vance, Margaret A, Horvitz, H. Robert, Brown, Jr, Robert H
Published in JAMA : the journal of the American Medical Association (04.10.2000)
Published in JAMA : the journal of the American Medical Association (04.10.2000)
Get full text
Journal Article
Identification of Two Novel Loci for Dominantly Inherited Familial Amyotrophic Lateral Sclerosis
Sapp, Peter C., Hosler, Betsy A., McKenna-Yasek, Diane, Chin, Wendy, Gann, Amity, Genise, Hilary, Gorenstein, Julie, Huang, Michael, Sailer, Wen, Scheffler, Meg, Valesky, Marianne, Haines, Jonathan L., Pericak-Vance, Margaret, Siddique, Teepu, Horvitz, H. Robert, Brown, Robert H.
Published in American journal of human genetics (01.08.2003)
Published in American journal of human genetics (01.08.2003)
Get full text
Journal Article
SOD1A4V-mediated ALS : Absence of a closely linked modifier gene and origination in Asia
BROOM, W. J, JOHNSON, D. V, AUWARTER, K. E, IAFRATE, A. J, RUSS, C, AL-CHALABI, A, SAPP, P. C, MCKENNA-YASEK, D, ANDERSEN, P. M, BROWN, R. H
Published in Neuroscience letters (17.01.2008)
Published in Neuroscience letters (17.01.2008)
Get full text
Journal Article
Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1
Rosen, D R, Sapp, P C, O'Regan, J, Horvitz, H R, Donaldson, D H, Nussbaum, C, Gusella, J F, Haines, J L, Pestka, S, Jung, V
Published in Human molecular genetics (01.10.1992)
Published in Human molecular genetics (01.10.1992)
Get more information
Journal Article
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis
González-Pérez, Paloma, Cirulli, Elizabeth T, Drory, Vivian E, Dabby, Ron, Nisipeanu, Puiu, Carasso, Ralph L, Sadeh, Menachem, Fox, Andrew, Festoff, Barry W, Sapp, Peter C, McKenna-Yasek, Diane, Goldstein, David B, Brown, Jr, Robert H, Blumen, Sergiu C
Published in Neurology (27.11.2012)
Published in Neurology (27.11.2012)
Get more information
Journal Article
Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis
Hosler, Betsy A., Nicholson, Garth A., Sapp, Peter C., Chin, Wendy, Orrell, Richard W., De Belleroche, Jackie S., Esteban, Jesus, Hayward, Lawrence J., McKenna-Yasek, Diane, Yeung, Leone, Cherryson, Annia K., Dench, Joanne E., Wilton, Steve D., Laing, Nigel G., Horvitz, H.Robert, Brown, Robert H.
Published in Neuromuscular disorders : NMD (01.10.1996)
Published in Neuromuscular disorders : NMD (01.10.1996)
Get full text
Journal Article
Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33
Hosler, B A, Sapp, P C, Berger, R, O'Neill, G, Bejaoui, K, Hamida, M B, Hentati, F, Chin, W, McKenna-Yasek, D, Haines, J L, Patterson, D, Horvitz, H R, Brown, Jr, R H, Day, C B
Published in Neurogenetics (01.12.1998)
Published in Neurogenetics (01.12.1998)
Get full text
Journal Article
Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1)
Donaldson, D H, Rosen, D R, O'Regan, J, Sapp, P C, Horvitz, H R, Gusella, J F, Haines, J L, Pestka, S, Jung, V, Nusbaum, C
Published in Human molecular genetics (01.10.1992)
Published in Human molecular genetics (01.10.1992)
Get more information
Journal Article
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis
Sapp, P C, Rosen, D R, Hosler, B A, Esteban, J, McKenna-Yasek, D, O'Regan, J P, Horvitz, H R, Brown, Jr, R H
Published in Neuromuscular disorders : NMD (01.09.1995)
Published in Neuromuscular disorders : NMD (01.09.1995)
Get full text
Journal Article
Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes
Broom, Wendy J., Russ, Carsten, Sapp, Peter C., McKenna-Yasek, Diane, Hosler, Betsy A., Andersen, Peter M., Brown, Robert H.
Published in Neuroscience letters (09.01.2006)
Published in Neuroscience letters (09.01.2006)
Get full text
Journal Article
No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: A tagging SNP approach
Shah, Paresh R., Ahmad-Annuar, Azlina, Ahmadi, Kourosh R., Russ, Carsten, Sapp, Peter C., Robert Horvitz, H., Brown, Robert H., Goldstein, David B., Fisher, Elizabeth M. C.
Published in Amyotrophic lateral sclerosis (01.03.2006)
Published in Amyotrophic lateral sclerosis (01.03.2006)
Get full text
Journal Article