HuGE Literature Finder
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| Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing. American journal of human genetics 2023 1 110 (2): 240-250. Chen Xiao, Harting John, Farrow Emily, Thiffault Isabelle, Kasperaviciute Dalia, , Hoischen Alexander, Gilissen Christian, Pastinen Tomi, Eberle Michael |
| Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province. BMC medical genomics 2023 3 16 (1): 39. Huang Zhiwei, Yang Qingchan, Ye Jianxiang, Huang Jianxing, Lin Jin, Chen Jing, Liang Zizhao, Cao Zij |
| Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing. The Journal of molecular diagnostics : JMD 2022 May . Li Shuyuan, Han Xu, Xu Yan, Chang Chunxin, Gao Li, Li Jiaqi, Lu Yulin, Mao Aiping, Wang Yanl |
| A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans. Orphanet journal of rare diseases 2022 3 17 (1): 133. Mahungu Amokelani C, Monnakgotla Nomakhosazana, Nel Melissa, Heckmann Jeannine |
| Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2. International journal of molecular sciences 2022 8 23 (15): . Blasco-Pérez Laura, Costa-Roger Mar, Leno-Colorado Jordi, Bernal Sara, Alias Laura, Codina-Solà Marta, Martínez-Cruz Desirée, Castiglioni Claudia, Bertini Enrico, Travaglini Lorena, Millán José M, Aller Elena, Sotoca Javier, Juntas Raúl, Hoei-Hansen Christina Engel, Moreno-Escribano Antonio, Guillén-Navarro Encarna, Costa-Comellas Laura, Munell Francina, Boronat Susana, Rojas-García Ricardo, Povedano Mónica, Cuscó Ivon, Tizzano Eduardo |
| 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 |
| Phenotypes of SMA patients retaining SMN1 with intragenic mutation. Brain & development 2021 4 43 (7): 745-758. Wijaya Yogik Onky Silvana, Ar Rohmah Mawaddah, Niba Emma Tabe Eko, Morisada Naoya, Noguchi Yoriko, Hidaka Yasufumi, Ozasa Shiro, Inoue Takeshi, Shimazu Tomoyuki, Takahashi Yuya, Tozawa Takenori, Chiyonobu Tomohiro, Inoue Takushi, Shiroshita Tomoyoshi, Yokoyama Atsushi, Okamoto Kentaro, Awano Hiroyuki, Takeshima Yasuhiro, Saito Toshio, Saito Kayoko, Nishio Hisahide, Shinohara Masaka |
| SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis. Neurology. Genetics 2021 6 7 (4): e598. Bos Jeroen W, Groen Ewout J N, Wadman Renske I, Curial Chantall A D, Molleman Naomi N, Zegers Marinka, van Vught Paul W J, Snetselaar Reinier, Vijzelaar Raymon, van der Pol W Ludo, van den Berg Leonard |
| [Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 3 37 (4): 384-388. Zhang Yinhong, Wang Lei, He Jing, Guo Jingjing, Jin Chanchan, Tang Xinhua, Zhang Jinman, Chen Hong, Zhang Jie, Su Jie, Zhu Baoshe |
| Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene. Brain & development 2020 10 43 (2): 294-302. Niba Emma Tabe Eko, Nishio Hisahide, Wijaya Yogik Onky Silvana, Lai Poh San, Tozawa Takenori, Chiyonobu Tomohiro, Yamadera Misaki, Okamoto Kentaro, Awano Hiroyuki, Takeshima Yasuhiro, Saito Toshio, Shinohara Masaka |
| Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy. Neurology. Genetics 2020 10 6 (5): e505. Mendonça Rodrigo de Holanda, Matsui Ciro, Polido Graziela Jorge, Silva André Macedo Serafim, Kulikowski Leslie, Torchio Dias Alexandre, Zanardo Evelin Aline, Solla Davi Jorge Fontoura, Gurgel-Giannetti Juliana, de Moura Ana Carolina Monteiro Lessa, Sampaio Gabriela Palhares Campolina, Oliveira Acary Souza Bulle, de Souza Paulo Victor Sgobbi, Pinto Wladimir Bocca Vieira de Rezende, Gonçalves Eduardo Augusto, Farias Igor Braga, Nardes Flávia, Araújo Alexandra Prufer de Queiroz Campos, Marques Wilson, Tomaselli Pedro José, Ribeiro Mara Dell Ospedale, Kitajima João Paulo, Paoli Monteiro Fabíola, Saute Jonas Alex Morales, Becker Michele Michelin, Saraiva-Pereira Maria Luiza, Brusius-Facchin Ana Carolina, van der Linden Vanessa, Florêncio Rodrigo Neves, Barbosa André Vinícius Soares, Machado-Costa Marcela Camara, Pessoa André Luiz Santos, Souza Leticia Silva, Franca Marcondes Cavalcante, Kok Fernando, Reed Umbertina Conti, Zanoteli Edm |
| SMN1 copy-number and sequence variant analysis from next-generation sequencing data. Human mutation 2020 10 41 (12): 2073-2077. Lopez-Lopez Daniel, Loucera Carlos, Carmona Rosario, Aquino Virginia, Salgado Josefa, Pasalodos Sara, Miranda María, Alonso Ángel, Dopazo Joaqu |
| Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement? Frontiers in genetics 2020 3 11 54. Vorster Elana, Essop Fahmida B, Rodda John L, Krause Aman |
| 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 |
| Identification of Novel Microsatellite Markers Flanking the SMN1 and SMN2 Duplicated Region and Inclusion Into a Single-Tube Tridecaplex Panel for Haplotype-Based Preimplantation Genetic Testing of Spinal Muscular Atrophy. Frontiers in genetics 2019 11 10 1105. Zhao Mingjue, Lian Mulias, Cheah Felicia S H, Tan Arnold S C, Agarwal Anupriya, Chong Samuel |
| Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscular disorders : NMD 2018 2 28 (3): 208-215. Calucho Maite, Bernal Sara, Alías Laura, March Francesca, Venceslá Adoración, Rodríguez-Álvarez Francisco J, Aller Elena, Fernández Raquel M, Borrego Salud, Millán José M, Hernández-Chico Concepción, Cuscó Ivon, Fuentes-Prior Pablo, Tizzano Eduardo |
| Specific Gene Capture Combined with Restriction-Fragment Release for Directly Fluorescent Genotyping of Single-Nucleotide Polymorphisms in Diagnosing Spinal Muscular Atrophy. Analytical chemistry 2018 9 90 (19): 11599-11606. Wang Chun-Chi, Chen Chung-An, Jong Yuh-Jyh, Kou Hwang-Sha |
| Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history. PloS one 2018 9 13 (9): e0202104. Carson Vincent J, Puffenberger Erik G, Bowser Lauren E, Brigatti Karlla W, Young Millie, Korulczyk Dominika, Rodrigues Ashlin S, Loeven KaLynn K, Strauss Kevin |
| Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling. European journal of human genetics : EJHG 2018 6 26 (10): 1554-1557. Alías Laura, Bernal Sara, Calucho Maite, Martínez Elisabeth, March Francesca, Gallano Pia, Fuentes-Prior Pablo, Abuli Anna, Serra-Juhe Clara, Tizzano Eduardo |
| Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy. Journal of Zhejiang University. Science. B 2016 1 17 (1): 76-82. Cao Yan-yan, Qu Yu-jin, He Sheng-xi, Li Yan, Bai Jin-Ll, Jin Yu-wei, Wang Hong, Song Fa |
| Genetic findings of Cypriot spinal muscular atrophy patients. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2015 Oct 36 (10): 1829-34. Theodorou L, Nicolaou P, Koutsou P, Georghiou A, Anastasiadou V, Tanteles G, Kyriakides T, Zamba-Papanicolaou E, Christodoulou |
| Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients. Journal of human genetics 2015 Aug . Brkušanin Miloš, Kosa? Ana, Jovanovi? Vladimir, Pešovi? Jovan, Brajuškovi? Goran, Dimitrijevi? Nikola, Todorovi? Slobodanka, Romac Stanka, Mili? Raši? Vedrana, Savi?-Pavi?evi? Dušan |
| Association of copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein gene with the natural history in a Chinese spinal muscular atrophy cohort. Journal of child neurology 2015 Mar 30 (4): 429-36. Qu Yu-jin, Ge Xiu-shan, Bai Jin-li, Wang Li-wen, Cao Yan-yan, Lu Yan-yu, Jin Yu-wei, Wang Hong, Song Fa |
| A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper. Clinical laboratory 2015 61 (5-6): 575-80. Sa'adah Nihayatus, Harahap Nur Imma Fatimah, Nurputra Dian Kesumapramudya, Rochmah Mawaddah Ar, Morikawa Satoru, Nishimura Noriyuki, Sadewa Ahmad Hamim, Astuti Indwiani, Haryana Sofia Mubarika, Saito Toshio, Saito Kayoko, Nishio Hisahi |
| Analysis of the C9orf72 gene in spinal muscular atrophy patients. Amyotrophic lateral sclerosis & frontotemporal degeneration 2014 Dec 15 (7-8): 563-8. Alías Laura, Bernal Sara, Barceló Maria J, Martínez-Hernández Rebeca, Martínez Elisabeth, Baiget Montserrat, Tizzano Eduardo |
| Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients. Brain & development 2014 Nov 36 (10): 914-20. Yamamoto Tomoto, Sato Hideyuki, Lai Poh San, Nurputra Dian Kesumapramudya, Harahap Nur Imma Fatimah, Morikawa Satoru, Nishimura Noriyuki, Kurashige Takashi, Ohshita Tomohiko, Nakajima Hideki, Yamada Hiroyuki, Nishida Yoshinobu, Toda Soichiro, Takanashi Jun-Ichi, Takeuchi Atsuko, Tohyama Yumi, Kubo Yuji, Saito Kayoko, Takeshima Yasuhiro, Matsuo Masafumi, Nishio Hisahi |
| Universal fluorescent tri-probe ligation equipped with capillary electrophoresis for targeting SMN1 and SMN2 genes in diagnosis of spinal muscular atrophy. Analytica chimica acta 2014 Jun 833 40-7. Wang Chun-Chi, Shih Chi-Jen, Jong Yuh-Jyh, Wu Shou-M |
| [Analysis and carrier screening for copy numbers of SMN and NAIP genes in children with spinal muscular atrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2014 Apr 31 (2): 152-5. Zeng Guangqun, Zheng Hong, Cheng Jing, Chen Rong, Lin He, Yang Jiyun, Zhang Dingdi |
| Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Annals of neurology 2014 Apr 75 (4): 525-32. Sangaré Modibo, Hendrickson Brant, Sango Hammadoun Ali, Chen Kelian, Nofziger Jonathan, Amara Abdelbasset, Dutra Amalia, Schindler Alice B, Guindo Aldiouma, Traoré Mahamadou, Harmison George, Pak Evgenia, Yaro Fatoumata N'Go, Bricceno Katherine, Grunseich Christopher, Chen Guibin, Boehm Manfred, Zukosky Kristen, Bocoum Nouhoum, Meilleur Katherine G, Daou Fatoumata, Bagayogo Koumba, Coulibaly Yaya Ibrahim, Diakité Mahamadou, Fay Michael P, Lee Hee-Suk, Saad Ali, Gribaa Moez, Singleton Andrew B, Maiga Youssoufa, Auh Sungyoung, Landouré Guida, Fairhurst Rick M, Burnett Barrington G, Scholl Thomas, Fischbeck Kenneth |
| [Carrier screening for spinal muscular atrophy in 4719 pregnant women in Shanghai region]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2013 Dec 30 (6): 670-2. Gong Bo, Zhang Li, Hou Ya-ping, Hu He-yu, Li Hai-chuan, Tan Mei-yu, Chen Jin, Yu Ji |
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 30, 2023
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