Human Genome Epidemiology Literature Finder
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Records 1 - 6 (of 6 Records) |
| Query Trace: Motor Neuron Disease and SMN1[original query] |
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| Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Annals of neurology 2002 Feb 51 (2): 243-6. Corcia Philippe, Mayeux-Portas Véronique, Khoris Jawad, de Toffol Bertrand, Autret Alain, Müh Jean-Pierre, Camu William, Andres Christian, |
| Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population. Annals of clinical and laboratory science 2010 40 (4): 368-74. Kim Juwon, Lee Sang-Guk, Choi Young-Chul, Kang Seong-Woong, Lee Jun-Beom, Choi Jong Rak, Lee Kyung |
| 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 |
| SMN1 duplications contribute to sporadic amyotrophic lateral sclerosis susceptibility: evidence from a meta-analysis. Journal of the neurological sciences 2014 May 340 (1-2): 63-8. Wang Xue-Bin, Cui Ning-Hua, Gao Jia-Jia, Qiu Xue-Ping, Zheng Fa |
| Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Human genetics 2019 Feb . Ruhno Corey, McGovern Vicki L, Avenarius Matthew R, Snyder Pamela J, Prior Thomas W, Nery Flavia C, Muhtaseb Abdurrahman, Roggenbuck Jennifer S, Kissel John T, Sansone Valeria A, Siranosian Jennifer J, Johnstone Alec J, Nwe Pann H, Zhang Ren Z, Swoboda Kathryn J, Burghes Arthur H |
| Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics 2021 1 22 (1): 53-64. Stabley Deborah L, Holbrook Jennifer, Scavina Mena, Crawford Thomas O, Swoboda Kathryn J, Robbins Katherine M, Butchbach Matthew E |
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