日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

星状蛋白的结构变异及其对表型和遗传的影响:由大片段缺失引起的显性远端表型的建立

Sagath, Lydia; Kiiski, Kirsi; Naidu, Kireshnee; Patel, Krutik; Jonson, Per Harald; Laarne, Milla; Djordjevic, Djurdja; Yoon, Grace; LaGroon, Anna; Rogers, Curtis; Galindo, Maureen Kelly; Scherer, Katalin; Kunstmann, Erdmute; Koparir, Erkan; Ho, Desirée; Davis, Mark; Joshi, Purwa; Zygmunt, Alexander; Orbach, Rotem; Donkervoort, Sandra; Bönnemann, Carsten G; Savarese, Marco; Echaniz-Laguna, Andoni; Biancalana, Valérie; Genetti, Casie A; Iannaccone, Susan T; Beggs, Alan H; Wallgren-Pettersson, Carina; Henning, Franclo; Pelin, Katarina; Lehtokari, Vilma-Lotta

The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa

下一代测序靶向多基因panel在南非泰格伯格医院成人神经遗传诊所的应用

Van Tonder, Cumine; Schoeman, Mardelle; Carr, Jonathan; Henning, Franclo; Bailly, Claude; Moosa, Shahida

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

不同人群神经肌肉疾病中的线粒体DNA异常

Gao, Fei; Schon, Katherine R; Vandrovcova, Jana; Köken, Özlem Yayıcı; Raga, Sharika; Naidu, Kireshnee; Schoonen, Maryke; Rani, Nimita; Tomaselli, Pedro; Baskar, Dipti; Kapapa, Musambo; Polat, Ipek; Wilson, Lindsay A; Thangaraj, Kumarasamy; Yiş, Uluç; Nandeesh, Bevinahalli N; Bearden, David; Kvalsund, Michelle; Henning, Franclo; Vengalil, Seena; Nalini, Atchayaram; Sobreira, Claudia F R; Marques, Wilson; Topoloğlu, Haluk; Hanna, Michael G; Yareeda, Sireesha; Vishnu, Venugopalan Y; van der Westhuizen, Francois H; Smuts, Izelle; Meldau, Surita; Wilmshurst, Jo; Çavdarlı, Büşranur; Heckmann, Jeannine; Chinnery, Patrick F; Horvath, Rita

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study

南非人群中MADD的临床、生化和遗传谱:一项ICGNMD研究

Michelle Bisschoff ,Izelle Smuts ,Marli Dercksen ,Maryke Schoonen ,Barend C Vorster ,George van der Watt ,Careni Spencer ,Kireshnee Naidu ,Franclo Henning ,Surita Meldau ,Robert McFarland ,Robert W Taylor ,Krutik Patel ,Mahmoud R Fassad ,Jana Vandrovcova ,Francois H van der Westhuizen

Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant

PEX11B致病变异的扩展表型:由新型C.2T>G变异引起的共济失调、震颤和肌张力障碍

Henning, Franclo; Naidu, Kireshnee; Record, Christopher J; Dominik, Natalia; Vandrovcova, Jana; Lubbe, Frans; Dercksen, Marli; Wilson, Lindsay A; Van Der Westhuizen, Francois; Reilly, Mary M; Houlden, Henry; Hanna, Michael G; Carr, Jonathan

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

面肩肱型肌营养不良症基因诊断最佳实践指南:2012 年指南更新

Giardina, Emiliano; Camaño, Pilar; Burton-Jones, Sarah; Ravenscroft, Gina; Henning, Franclo; Magdinier, Frederique; van der Stoep, Nienke; van der Vliet, Patrick J; Bernard, Rafaëlle; Tomaselli, Pedro J; Davis, Mark R; Nishino, Ichizo; Oflazer, Piraye; Race, Valerie; Vishnu, Venugopalan Y; Williams, Victoria; Sobreira, Cláudia F R; van der Maarel, Silvere M; Moore, Steve A; Voermans, Nicol C; Lemmers, Richard J L F

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

星状蛋白的结构变异及其对表型和遗传的影响:由大片段缺失引起的显性远端表型的建立

Sagath, Lydia; Kiiski, Kirsi; Naidu, Kireshnee; Patel, Krutik; Jonson, Per Harald; Laarne, Milla; Djordjevic, Djurdja; Yoon, Grace; LaGroon, Anna; Rogers, Curtis; Galindo, Maureen Kelly; Scherer, Katalin; Kunstmann, Erdmute; Koparir, Erkan; Ho, Desirée; Davis, Mark; Joshi, Purwa; Zygmunt, Alexander; Orbach, Rotem; Donkervoort, Sandra; Bönnemann, Carsten G; Savarese, Marco; Echaniz-Laguna, Andoni; Biancalana, Valérie; Genetti, Casie A; Iannaccone, Susan T; Beggs, Alan H; Wallgren-Pettersson, Carina; Henning, Franclo; Pelin, Katarina; Lehtokari, Vilma-Lotta

Neuromuscular disease genetics in under-represented populations: increasing data diversity

神经肌肉疾病遗传学在代表性不足人群中的研究:提高数据多样性

Wilson, Lindsay A; Macken, William L; Perry, Luke D; Record, Christopher J; Schon, Katherine R; Frezatti, Rodrigo S S; Raga, Sharika; Naidu, Kireshnee; Köken, Özlem Yayıcı; Polat, Ipek; Kapapa, Musambo M; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J L F; Reyaz, Alisha; Mishra, Rinkle; Töpf, Ana; Trainor, Christina I; Steyn, Elizabeth C; Mahungu, Amokelani C; van der Vliet, Patrick J; Ceylan, Ahmet Cevdet; Hiz, A Semra; Çavdarlı, Büşranur; Semerci Gündüz, C Nur; Ceylan, Gülay Güleç; Nagappa, Madhu; Tallapaka, Karthik B; Govindaraj, Periyasamy; van der Maarel, Silvère M; Narayanappa, Gayathri; Nandeesh, Bevinahalli N; Wa Somwe, Somwe; Bearden, David R; Kvalsund, Michelle P; Ramdharry, Gita M; Oktay, Yavuz; Yiş, Uluç; Topaloğlu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M; Heckmann, Jeannine M; McFarland, Robert; Taylor, Robert W; Smuts, Izelle; van der Westhuizen, Francois H; Sobreira, Claudia Ferreira da Rosa; Tomaselli, Pedro J; Marques, Wilson Jr; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M V Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F; Pitceathly, Robert D S; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M; Hanna, Michael G

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and Human Immunodeficiency virus infection: dilemmas in diagnosis and management: a case series

髓鞘少突胶质细胞糖蛋白抗体相关疾病(MOGAD)和人类免疫缺陷病毒感染:诊断和治疗中的难题:病例系列研究

Gadama, Yohane; Du Preez, Marié; Carr, Jonathan; Theron, Sarel; Albertyn, Christine; Ssebambulidde, Kenneth; Saylor, Deanna; Brey, Naeem; Henning, Franclo

C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis

C9orf72 在患有肌萎缩侧索硬化症的南非人中重复扩增

Melissa Nel, Gloudi M Agenbag, Franclo Henning, Helen M Cross, Alina Esterhuizen, Jeannine M Heckmann