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

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.

COX18 的双等位基因变异会导致线粒体疾病,主要表现为周围神经病变。

Armirola-Ricaurte Camila, Morant Laura, Adant Isabelle, Hamed Sherifa A, Pipis Menelaos, Efthymiou Stephanie, Amor-Barris Silvia, Atkinson Derek, Van de Vondel Liedewei, Tomic Aleksandra, Seneca Sara, de Vriendt Els, Zuchner Stephan, Ghesquiere Bart, Hanna Michael G, Houlden Henry, Lunn Michael P, Reilly Mary M, Milic Rasic Vedrana, Jordanova Albena

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy

TBC1D7基因中5'UTR CCG扩增导致眼咽远端肌病

Van de Vondel, Liedewei; Curro, Riccardo; Facchini, Stefano; Xu, Isaac R L; De Winter, Jonathan; Quartesan, Ilaria; Monticelli, Alice; Alonso-Jimenez, Alicia; De Ridder, Willem; Bertini, Alessandro; Alves, Gustavo; Pizzuto, Francesca; Ugolini, Hermione; Pellerin, David; De Pooter, Tim; Merve, Ashirwad; Machado, Pedro; Sagath, Lydia; Neveling, Kornelia; Hoischen, Alexander; Hanna, Michael G; Pitceathly, Robert D S; Houlden, Henry; Tucci, Arianna; Bugiardini, Enrico; Brady, Stefen; Roberts, Mark; Danzi, Matt C; Züchner, Stephan; Baets, Jonathan; Cortese, Andrea

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

ARHGAP19基因的双等位基因变异会导致进行性遗传性运动为主的神经病。

Dominik, Natalia; Efthymiou, Stephanie; Record, Christopher J; Miao, Xinyu; Lin, Renee Q; Parmar, Jevin M; Scardamaglia, Annarita; Maroofian, Reza; Lowe, Simon A; Aughey, Gabriel N; Wilson, Abigail D; Curro, Riccardo; Schnekenberg, Ricardo P; Alavi, Shahryar; Leclaire, Leif; He, Yi; Zhelcheska, Kristina; Bellaïche, Yohanns; Gaugué, Isabelle; Skorupinska, Mariola; Van de Vondel, Liedewei; Da'as, Sahar I; Turchetti, Valentina; Güngör, Serdal; Monahan, Gavin V; Ghayoor Karimiani, Ehsan; Jamshidi, Yalda; Lamont, Phillipa J; Armirola-Ricaurte, Camila; Topaloglu, Haluk; Jordanova, Albena; Zaman, Mashaya; Banu, Selina H; Marques, Wilson; Tomaselli, Pedro J; Aynekin, Busra; Cansu, Ali; Per, Huseyin; Güleç, Ayten; Alvi, Javeria Raza; Sultan, Tipu; Khan, Arif; Zifarelli, Giovanni; Ibrahim, Shahnaz; Mancini, Grazia M S; Motazacker, M M; Brusse, Esther; Lupo, Vincenzo; Sevilla, Teresa; Başak, A Nazli; Tekgul, Seyma; Palvadeau, Robin J; Baets, Jonathan; Parman, Yesim; Çakar, Arman; Horvath, Rita; Haack, Tobias B; Stahl, Jan-Hendrik; Grundmann-Hauser, Kathrin; Park, Joohyun; Zuchner, Stephan; Laing, Nigel G; Wilson, Lindsay A; Rossor, Alexander M; Polke, James; Figueiredo, Fernanda Barbosa; Pessoa, André; Kok, Fernando; Coimbra-Neto, Antônio Rodrigues; Franca, Marcondes C Jr; Ravenscroft, Gianina; Hamed, Sherifa A; Chung, Wendy K; Pittman, Alan M; Osborn, Daniel P; Hanna, Michael; Cortese, Andrea; Reilly, Mary M; Jepson, James Ec; Lamarche-Vane, Nathalie; Houlden, Henry

Optimizing rare disorder trials: a phase 1a/1b randomized study of KL1333 in adults with mitochondrial disease

优化罕见病试验:KL1333 治疗成人线粒体疾病的 1a/1b 期随机研究

Pizzamiglio, Chiara; Stefanetti, Renae J; McFarland, Robert; Thomas, Naomi; Ransley, George; Hugerth, Matilda; Grönberg, Alvar; Serrano, Sonia Simon; Elmér, Eskil; Hanna, Michael G; Hansson, Magnus J; Gorman, Gráinne S; Pitceathly, Robert D S

Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta-Analyses

特发性炎症性肌病的遗传结构:基于荟萃分析

Zhu, Catherine; Han, Younghun; Byun, Jinyoung; Xiao, Xiangjun; Rothwell, Simon; Miller, Frederick W; Lundberg, Ingrid E; Gregersen, Peter K; Vencovsky, Jiri; Shaw, Vikram R; McHugh, Neil; Limaye, Vidya; Selva-O'Callaghan, Albert; Hanna, Michael G; Machado, Pedro M; Pachman, Lauren M; Reed, Ann M; Rider, Lisa G; Molberg, Øyvind; Benveniste, Olivier; Radstake, Timothy; Doria, Andrea; De Bleecker, Jan L; De Paepe, Boel; Maurer, Britta; Ollier, William E; Padyukov, Leonid; Wedderburn, Lucy R; Chinoy, Hector; Lamb, Janine A; Amos, Christopher I

Drug treatment for myotonia

肌强直的药物治疗

Spillane, Jennifer; Trip, Jeroen; Drost, Gea; Faber, Catharina G; Hanna, Michael G; Nevitt, Sarah J; Vivekanandam, Vinojini

An Approach for Studying the Direct Effects of Shock Waves on Neuronal Cell Structure and Function

一种研究冲击波对神经元细胞结构和功能直接影响的方法

Hanna, Michael; Pfister, Bryan J

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick

Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.

RYR1 和 STAC3 的双等位基因变异是非洲人群中 King-Denborough 综合征的主要原因

Schoonen Maryke, Fassad Mahmoud, Patel Krutik, Bisschoff Michelle, Vorster Armand, Makwikwi Tendai, Human Ronel, Lubbe Elsa, Nonyane Malebo, Vorster Barend C, Vandrovcova Jana, Hanna Michael G, Taylor Robert W, McFarland Robert, Wilson Lindsay A, van der Westhuizen Francois H, Smuts Izelle

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia

与肌痛性肌强直症或副肌强直相关的新型SCN4A变异

Periviita, Vesa; Männikkö, Roope; Jokela, Manu; Sud, Richa; Hanna, Michael G; Udd, Bjarne; Palmio, Johanna