Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Syndrome and NIPA1[original query] |
---|
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation research 2014 Oct 115 (10): 884-96. Glessner Joseph T, Bick Alexander G, Ito Kaoru, Homsy Jason G, Rodriguez-Murillo Laura, Fromer Menachem, Mazaika Erica, Vardarajan Badri, Italia Michael, Leipzig Jeremy, DePalma Steven R, Golhar Ryan, Sanders Stephan J, Yamrom Boris, Ronemus Michael, Iossifov Ivan, Willsey A Jeremy, State Matthew W, Kaltman Jonathan R, White Peter S, Shen Yufeng, Warburton Dorothy, Brueckner Martina, Seidman Christine, Goldmuntz Elizabeth, Gelb Bruce D, Lifton Richard, Seidman Jonathan, Hakonarson Hakon, Chung Wendy |
Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiology of aging 2014 Oct 35 (10): 2421.e13-7. van Blitterswijk Marka, Mullen Bianca, Heckman Michael G, Baker Matthew C, DeJesus-Hernandez Mariely, Brown Patricia H, Murray Melissa E, Hsiung Ging-Yuek R, Stewart Heather, Karydas Anna M, Finger Elizabeth, Kertesz Andrew, Bigio Eileen H, Weintraub Sandra, Mesulam Marsel, Hatanpaa Kimmo J, White Charles L, Neumann Manuela, Strong Michael J, Beach Thomas G, Wszolek Zbigniew K, Lippa Carol, Caselli Richard, Petrucelli Leonard, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Mackenzie Ian R, Seeley William W, Grinberg Lea T, Miller Bruce L, Boylan Kevin B, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort. Neurobiology of aging 2019 02 74 234.e9-234.e15. Tazelaar Gijs H P, Dekker Annelot M, van Vugt Joke J F A, van der Spek Rick A, Westeneng Henk-Jan, Kool Lindy J B G, Kenna Kevin P, van Rheenen Wouter, Pulit Sara L, McLaughlin Russell L, Sproviero William, Iacoangeli Alfredo, Hübers Annemarie, Brenner David, Morrison Karen E, Shaw Pamela J, Shaw Christopher E, Panadés Monica Povedano, Mora Pardina Jesus S, Glass Jonathan D, Hardiman Orla, Al-Chalabi Ammar, van Damme Philip, Robberecht Wim, Landers John E, Ludolph Albert C, Weishaupt Jochen H, van den Berg Leonard H, Veldink Jan H, van Es Michael A, |
Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2019 7 40 (12): 2537-2540. Corrado Lucia, Brunetti Maura, Di Pierro Alice, Barberis Marco, Croce Roberta, Bersano Enrica, De Marchi Fabiola, Zuccalà Miriam, Barizzone Nadia, Calvo Andrea, Moglia Cristina, Mazzini Letizia, Chiò Adriano, D'Alfonso Sand |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: