Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 114 Records) |
Query Trace: Spinal Muscular Atrophy 1[original query] |
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Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report. American journal of medical genetics. Part A 2020 7 182 (10): 2369-2371. Lee Bo Hoon, Mongiovi Phillip, Levade Thierry, Marston Bethany, Mountain Joan, Ciafaloni Em |
Molecular analysis and clinical diversity of distal hereditary motor neuropathy. European journal of neurology 2020 4 27 (7): 1319-1326. Liu X, Duan X, Zhang Y, Sun A, Fan |
[Clinical practice guidelines for spinal muscular atrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 3 37 (3): 263-268. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association , Pan Jianyan, Tan Hu, Zhou Miaojin, Liang Desheng, Wu Lingqi |
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 |
[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 |
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy. International journal of molecular sciences 2021 8 22 (16): . Costa-Roger Mar, Blasco-Pérez Laura, Cuscó Ivon, Tizzano Eduardo |
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 |
Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype. Yi chuan = Hereditas 2021 3 43 (2): 160-168. Yanyan Cao, Miaomiao Cheng, Fang Song, Yujin Qu, Jinli Bai, Hong Wa |
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study. Hong Kong medical journal = Xianggang yi xue za zhi 2021 Feb . Chan O Y M, Leung T Y, Cao Y, Shi M M, Kwan A H W, Chung J P W, Choy K W, Chong S |
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 |
Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center. JBRA assisted reproduction 2022 8 . Soares Célia Azevedo, Tkachenko Natália, Vale-Fernandes Emídio, Barreiro Márcia, Abreu Maria, Reis Cláudia Falcão, Soares Gabriela, Fortuna Ana Maria, Soares Ana Ri |
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 |
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 spectrum of recessiveness among Mendelian disease variants in UK Biobank. American journal of human genetics 2022 May . Barton Alison R, Hujoel Margaux L A, Mukamel Ronen E, Sherman Maxwell A, Loh Po- |
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 |
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile. Annals of clinical and translational neurology 2022 11 9 (12): 1941-1952. Lee Michelle M, McDowell Graeme S V, De Vivo Darryl C, Friedman Daniel, Berkovic Samuel F, Spanou Maria, Dinopoulos Argirios, Grand Katheryn, Sanchez-Lara Pedro A, Allen-Sharpley Michelle, Warman-Chardon Jodi, Solyom Alexander, Levade Thierry, Schuchman Edward H, Bennett Steffany A L, Dyment David A, Pearson Toni |
[Genetic distribution in Chinese patients with hereditary peripheral neuropathy]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2022 10 54 (5): 874-883. Liu X X, Duan X H, Zhang S, Sun A P, Zhang Y S, Fan D |
Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients. Genes 2022 1 13 (1): . Osmanovic Alma, Gogol Isabel, Martens Helge, Widjaja Maylin, Müller Kathrin, Schreiber-Katz Olivia, Feuerhake Friedrich, Langhans Claus-Dieter, Schmidt Gunnar, Andersen Peter M, Ludolph Albert C, Weishaupt Jochen H, Brand Frank, Petri Susanne, Weber Ruthild |
The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers. Genes 2023 7 14 (7): . Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene D'Sil |
Evaluating the performance of four assays for carrier screening of spinal muscular atrophy. Clinica chimica acta; international journal of clinical chemistry 2023 7 548 117496. Jianxin Tan, Jingjing Zhang, Ruihong Sun, Zhu Jiang, Yuguo Wang, Dingyuan Ma, Jiao Jiao, Hao Chen, Yingchun Lin, Qinxin Zhang, Zhengfeng Xu, Ping |
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort. Journal of neuromuscular diseases 2023 7 . Stephanie Kleinle, Veronika Scholz, Anna Benet-Pagès, Tobias Wohlfrom, Stefanie Gehling, Florentine Scharf, Simone Rost, Eva-Christina Prott, Susanne Grinzinger, Anna Hotter, Verena Haug, Sabine Niemeier, Lucia Wiethoff-Ubrig, Tim Hagenacker, Klaus Goldhahn, Arpad von Moers, Maggie C Walter, Peter Reilich, Katja Eggermann, Florian Kraft, Ingo Kurth, Hannes Erdmann, Elke Holinski-Feder, Teresa Neuhann, Angela Abic |
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans. Neurology. Genetics 2023 6 9 (4): e200077. Nomakhosazana R Monnakgotla, Amokelani C Mahungu, Jeannine M Heckmann, Gerrit Botha, Nicola J Mulder, Gang Wu, Evadnie Rampersaud, Jason Myers, Marka Van Blitterswijk, Rosa Rademakers, J Paul Taylor, Joanne Wuu, Michael Benatar, Melissa N |
The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method. Global medical genetics 2023 6 10 (2): 117-122. Sinem Yalcintepe, Yasemin Karal, Selma Demir, Emine Ikbal Atli, Engin Atli, Damla Eker, Cisem Mail, Drenushe Zhuri, Hazal Sezginer Guler, Hakan Gurk |
[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy. Neuromuscular disorders : NMD 2023 4 33 (5): 382-390. Bai Jinli, Qu Yujin, OuYang Shijia, Jiao Hui, Wang Yang, Li Jingjing, Huang Wenchen, Zhao Yunlong, Peng Xiaoyin, Wang Depeng, Jin Yuwei, Wang Hong, Song Fa |
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 |
Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia. Cureus 2023 11 15 (10): e46452. Alaa Alghamdi, Shaikhah AlDossary, Wala Abdulaziz Alabdulqader, Fawzia Amer, Mona Ali, Momen Almomen, Fouad Algham |
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 of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China. Biochemical genetics 2024 4 . Huilin Sun, Jianli Zheng, Qing'e Zhang, Feifei Ying, Yadong Fu, Yongjuan Guan, Jing Wu, Yueyun Zhou, Jingjing Dong, Mengjun Xu, Fangfang Yang, Ning An, Ning Shi, Lu Zhang, Shu Zhu, Jianbing Liu, Min |
Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III. CNS neuroscience & therapeutics 2024 4 30 (4): e14718. Mengnan Lu, Xueying Wang, Na Sun, Shaoping Huang, Lin Yang, Dan |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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