Human Genome Epidemiology Literature Finder
Records 1 - 22 (of 22 Records) |
Query Trace: NIPA1[original query] |
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The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. Journal of neurology 2007 Sep 254 (9): 1221-6. DeLuca G C, Ramagopalan S V, Cader M Z, Dyment D A, Herrera B M, Orton S, Degenhardt A, Pugliatti M, Sadovnick A D, Sotgiu S, Ebers G |
A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Human molecular genetics 2010 Oct 19 (20): 4091-9. Blauw Hylke M, Al-Chalabi Ammar, Andersen Peter M, van Vught Paul W J, Diekstra Frank P, van Es Michael A, Saris Christiaan G J, Groen Ewout J N, van Rheenen Wouter, Koppers Max, Van't Slot Ruben, Strengman Eric, Estrada Karol, Rivadeneira Fernando, Hofman Albert, Uitterlinden Andre G, Kiemeney Lambertus A, Vermeulen Sita H M, Birve Anna, Waibel Stefan, Meyer Thomas, Cronin Simon, McLaughlin Russell L, Hardiman Orla, Sapp Peter C, Tobin Martin D, Wain Louise V, Tomik Barbara, Slowik Agnieszka, Lemmens Robin, Rujescu Dan, Schulte Claudia, Gasser Thomas, Brown Robert H, Landers John E, Robberecht Wim, Ludolph Albert C, Ophoff Roel A, Veldink Jan H, van den Berg Leonard |
Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics. G3 (Bethesda, Md.) 2012 Jan 2 (1): 71-8. Ghani Mahdi, Pinto Dalila, Lee Joseph H, Grinberg Yakov, Sato Christine, Moreno Danielle, Scherer Stephen W, Mayeux Richard, St George-Hyslop Peter, Rogaeva Ekateri |
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Human molecular genetics 2012 Jun 21 (11): 2497-502. Blauw Hylke M, van Rheenen Wouter, Koppers Max, Van Damme Philip, Waibel Stefan, Lemmens Robin, van Vught Paul W J, Meyer Thomas, Schulte Claudia, Gasser Thomas, Cuppen Edwin, Pasterkamp R Jeroen, Robberecht Wim, Ludolph Albert C, Veldink Jan H, van den Berg Leonard |
Rare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese population. Schizophrenia bulletin 2012 Feb . Zhao Q, Li T, Zhao X, Huang K, Wang T, Li Z, Ji J, Zeng Z, Zhang Z, Li K, Feng G, St Clair D, He L, Shi Y |
Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example. American journal of medical genetics. Part A 2013 Nov 161A (11): 2846-54. De Wolf Veerle, Brison Nathalie, Devriendt Koenraad, Peeters Hil |
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 |
High-dose folic acid supplementation alters the human sperm methylome and is influenced by the MTHFR C677T polymorphism. Human molecular genetics 2015 Aug . Aarabi Mahmoud, San Gabriel Maria C, Chan Donovan, Behan Nathalie A, Caron Maxime, Pastinen Tomi, Bourque Guillaume, MacFarlane Amanda J, Zini Armand, Trasler Jacquet |
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. Journal of the neurological sciences 2016 May 364 116-21. Balicza Peter, Grosz Zoltan, Gonzalez Michael A, Bencsik Renata, Pentelenyi Klara, Gal Aniko, Varga Edina, Klivenyi Peter, Koller Julia, Züchner Stephan, Molnar Judit Mar |
Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers. Neurobiology of aging 2015 Dec . Dekker Annelot M, Seelen Meinie, van Doormaal Perry T C, van Rheenen Wouter, Bothof Reinoud J P, van Riessen Tim, Brands William J, van der Kooi Anneke J, de Visser Marianne, Voermans Nicol C, Pasterkamp R Jeroen, Veldink Jan H, van den Berg Leonard H, van Es Michael |
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients. Journal of molecular medicine (Berlin, Germany) 2018 6 96 (7): 701-712. Lu Cong, Li Li-Xi, Dong Hai-Lin, Wei Qiao, Liu Zhi-Jun, Ni Wang, Gitler Aaron D, Wu Zhi-Yi |
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 |
Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts. Biological psychiatry 2019 Mar . Zhang Xianglong, Abdellaoui Abdel, Rucker James, de Jong Simone, Potash James B, Weissman Myrna M, Shi Jianxin, Knowles James A, Pato Carlos, Pato Michele, Sobell Janet, Smit Johannes H, Hottenga Jouke-Jan, de Geus Eco J C, Lewis Cathryn M, Buttenschøn Henriette N, Craddock Nick, Jones Ian, Jones Lisa, McGuffin Peter, Mors Ole, Owen Michael J, Preisig Martin, Rietschel Marcella, Rice John P, Rivera Margarita, Uher Rudolf, Gejman Pablo V, Sanders Alan R, Boomsma Dorret, Penninx Brenda W J H, Breen Gerome, Levinson Douglas |
Meta-analyses of genome wide association studies in lines of laying hens divergently selected for feather pecking using imputed sequence level genotypes. BMC genetics 2020 10 21 (1): 114. Falker-Gieske Clemens, Iffland Hanna, Preuß Siegfried, Bessei Werner, Drögemüller Cord, Bennewitz Jörn, Tetens Je |
Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans. IBRO neuroscience reports 2021 6 10 130-135. Nel Melissa, Mavundla Thandeka, Gultig Kayleigh, Botha Gerrit, Mulder Nicola, Benatar Michael, Wuu Joanne, Cooley Anne, Myers Jason, Rampersaud Evadnie, Wu Gang, Heckmann Jeannine |
Genetic analysis of ALS cases in the isolated island population of Malta. European journal of human genetics : EJHG 2021 1 29 (4): 604-614. Borg Rebecca, Farrugia Wismayer Maia, Bonavia Karl, Farrugia Wismayer Andrew, Vella Malcolm, van Vugt Joke J F A, Kenna Brendan J, Kenna Kevin P, Vassallo Neville, Veldink Jan H, Cauchi Ruben |
Amyotrophic lateral sclerosis and cerebellum. Scientific reports 2022 Jul 12 (1): 12586. Kabiljo Renata, Iacoangeli Alfredo, Al-Chalabi Ammar, Rosenzweig Iva |
Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6. Frontiers in genetics 2022 4 13 859688. Fu Jun, Ma Mingming, Li Gang, Zhang Jiew |
A genome-wide association study identifies a novel association between SDC3 and apparent treatment-resistant hypertension. BMC medicine 2022 11 20 (1): 463. Xiao Xiao, Li Rui, Wu Cunjin, Yan Yupeng, Yuan Mengmeng, Cui Bing, Zhang Yu, Zhang Channa, Zhang Xiaoxia, Zhang Weili, Hui Rutai, Wang Yi |
Genetic variability in sporadic amyotrophic lateral sclerosis. Brain : a journal of neurology 2023 4 . Van Daele Sien Hilde, Moisse Matthieu, van Vugt Joke J F A, Zwamborn Ramona A J, van der Spek Rick, van Rheenen Wouter, Van Eijk Kristel, Kenna Kevin, Corcia Philippe, Vourc'h Patrick, Couratier Philippe, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian, Ticozzi Nicola, Silani Vincenzo, Ratti Antonia, de Carvalho Mamede, Mora Pardina Jesús S, Povedano Monica, Andersen Peter M, Weber Markus, Ba?ak Nazli A, Shaw Chris, Shaw Pamela J, Morrison Karen E, Landers John E, Glass Jonathan D, van Es Michael, van den Berg Leonard H, Al-Chalabi Ammar, Veldink Jan, Van Damme Phil |
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- Page last updated:Apr 22, 2024
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