Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 128 Records) |
| Query Trace: Spinal muscular atrophy[original query] |
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| 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 |
| 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 |
| 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 |
| Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy. Human genomics 2024 9 18 (1): 110. Ju Long, Di Cui, Chunhui Yu, Wanli Me |
| Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy. Journal of neurogenetics 2024 9 1-10. Nilgun Karasu, Hamit Acer, Hilal Akalin, Burcu Turkgenc, Mikail Demir, Izem Olcay Sahin, Nuriye Gokce, Ayten Gulec, Asli Ciplakligil, Ayse Caglar Sarilar, Isa Cuce, Hakan Gumus, Huseyin Per, Mehmet Canpolat, Munis Dund |
| Quality of Life Assessment in Romanian Patients with Spinal Muscular Atrophy Undergoing Nusinersen Treatment. Neurology international 2024 9 16 (5): 891-904. Bogdana Cavaloiu, Iulia-Elena Simina, Lazar Chisavu, Crisanda Vilciu, Iuliana-Anamaria Tr?il?, Maria Pu |
| [Application of CNVPLUS-array custom microarray in genetic analysis of spinal muscular atrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 9 41 (9): 1124-1130. Tingting Yang, Caiqin Guo, Danfeng Fang, Yi Liu, Yongguo |
| Analytical validation of the amplification refractory mutation system polymerase chain reaction-capillary electrophoresis assay to diagnose spinal muscular atrophy. Clinical chemistry and laboratory medicine 2024 6 . Mei Yao, Liya Jiang, Yue Yan, Yicheng Yu, Yuwei Chen, Xiaoyi Wang, Yijie Feng, Yiqin Cui, Dongming Zhou, Feng Gao, Shanshan M |
| Adherence and Persistence Among Risdiplam-Treated Individuals with Spinal Muscular Atrophy: A Retrospective Claims Analysis. Advances in therapy 2024 5 . Elmor D Pineda, Tu My To, Travis L Dickendesher, Sheila Shapouri, Susan T Iannacco |
| Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024 5 51 17-23. Paula Steffens, Deike Weiss, Anna Perez, Manuel Appel, Philipp Weber, Claudia Weiss, Corinna Stoltenburg, Ute Ehinger, Maja von der Hagen, Jens Schallner, Birte Claussen, Ilka Lode, Andreas Hahn, Rahel Schuler, Lena Ruß, Andreas Ziegler, Jonas Denecke, Jessika Johanns |
| 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 |
| Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series. Frontiers in genetics 2024 12 15 1502444. Kakha Bregvadze, Luka Abashishvili, Nana Nino Tatishvili, Teona Shatirishvili, Ana Bedoshvili, Gocha Chikvinidze, Arndt Rolfs, Volha Skrahina, Tinatin Tkemalad |
| The association between gait speed and falls in ambulatory adults with spinal muscular atrophy: a retrospective pilot study. Frontiers in neurology 2024 12 15 1491466. Kathryn Jira, Andrea Jaworek, Matti Allen, Songzhu Zhao, Kristina Kelly, W David Arnold, Bakri Elshei |
| SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan. BMC medical genomics 2024 11 17 (1): 263. Tomohiko Ishihara, Akihide Koyama, Naoki Atsuta, Mari Tada, Saori Toyoda, Kenta Kashiwagi, Sachiko Hirokawa, Yuya Hatano, Akio Yokoseki, Ryoichi Nakamura, Genki Tohnai, Yuishin Izumi, Ryuji Kaji, Mitsuya Morita, Asako Tamura, Osamu Kano, Masashi Aoki, Satoshi Kuwabara, Akiyoshi Kakita, Gen Sobue, Osamu Onode |
| Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region. BMC medical genomics 2024 11 17 (1): 275. Rukhsana Hassan, Gh Rasool Bhat, Feroze Ahmad Mir, Hilal Ahmad Ganie, Ifra Mushtaq, Mushtaq Ahmad Bhat, Ravouf Parvez Asimi, Dil Afro |
| Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS. The Analyst 2024 11 . Xiaodong Xing, Xing Ji, Xinzhu Liu, Xiaohui Jin, Zhenglei He, Ajing Xu, Wengao Jiang, Wenbo Ji, Yan Liu, Jian Zhang, Xiaohui Hua |
| Genetic Variability in Oxidative Stress, Inflammatory, and Neurodevelopmental Pathways: Impact on the Susceptibility and Course of Spinal Muscular Atrophy. Cellular and molecular neurobiology 2024 10 44 (1): 71. Maruša Barbo, Blaž Koritnik, Lea Leonardis, Tanja Blagus, Vita Dolžan, Metka Ravnik-Glav |
| A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome. Human genome variation 2025 1 12 (1): 2. Masafumi Miyata, Arisa Kojima, Yuri Kawai, Hidetoshi Uchida, Hiroko Boda, Naoko Ishihara, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahas |
- Page last reviewed:Feb 1, 2024
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