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

Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease

扩展POLRMT相关线粒体疾病的遗传和表型谱

Fassad, Mahmoud R; Valenzuela, Sebastian; Oláhová, Monika; Collier, Jack J; Knowles, Charlotte V Y; Mavraki, Eleni; Elbracht, Miriam; Güzel, Nergis; Herberhold, Thomas; Kurth, Ingo; Maier, Andrea; Mattern, Larissa; Saunders, Carol; McCullagh, Helen; Õunap, Katrin; Wortmann, Saskia B; Reis, Andre; Zhang, Lei; Gustafsson, Claes M; McFarland, Robert; Taylor, Robert W

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

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

纤毛病患者的变异揭示了TUBB4B在轴丝微管中的细胞器特异性功能

Daniel O Dodd # ,Sabrina Mechaussier # ,Patricia L Yeyati ,Fraser McPhie ,Jacob R Anderson ,Chen Jing Khoo ,Amelia Shoemark ,Deepesh K Gupta ,Thomas Attard ,Maimoona A Zariwala ,Marie Legendre ,Diana Bracht ,Julia Wallmeier ,Miao Gui ,Mahmoud R Fassad ,David A Parry ,Peter A Tennant ,Alison Meynert ,Gabrielle Wheway ,Lucas Fares-Taie ,Holly A Black ,Rana Mitri-Frangieh ,Catherine Faucon ,Josseline Kaplan ,Mitali Patel ,Lisa McKie ,Roly Megaw ,Christos Gatsogiannis ,Mai A Mohamed ,Stuart Aitken ,Philippe Gautier ,Finn R Reinholt ,Robert A Hirst ,Chris O'Callaghan ,Ketil Heimdal ,Mathieu Bottier ,Estelle Escudier ,Suzanne Crowley ,Maria Descartes ,Ethylin W Jabs ,Priti Kenia ,Jeanne Amiel ,Giacomo Maria Bacci ,Claudia Calogero ,Viviana Palazzo ,Lucia Tiberi ,Ulrike Blümlein ,Andrew Rogers ,Jennifer A Wambach ,Daniel J Wegner ,Anne B Fulton ,Margaret Kenna ,Margaret Rosenfeld ,Ingrid A Holm ,Alan Quigley ,Emma A Hall ,Laura C Murphy ,Diane M Cassidy ,Alex von Kriegsheim ,Laurent Pasquier ,Marlène S Murris ,James D Chalmers ,Claire Hogg ,Kenneth A Macleod ,Don S Urquhart ,Stefan Unger ,Timothy J Aitman ,Serge Amselem ,Margaret W Leigh ,Michael R Knowles ,Heymut Omran ,Hannah M Mitchison ,Alan Brown ,Joseph A Marsh ,Julie P I Welburn ,Shih-Chieh Ti ,Amjad Horani ,Jean-Michel Rozet ,Isabelle Perrault ,Pleasantine Mill

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

Axonemal structures reveal mechanoregulatory and disease mechanisms

轴丝结构揭示机械调节和疾病机制

Travis Walton #, Miao Gui #, Simona Velkova, Mahmoud R Fassad, Robert A Hirst, Eric Haarman, Christopher O'Callaghan, Mathieu Bottier, Thomas Burgoyne, Hannah M Mitchison, Alan Brown

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

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

TOP3A 的病理变异导致线粒体和核基因组稳定性明显紊乱

Direnis Erdinc #, Alejandro Rodríguez-Luis #, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous; Genomics England Research Consortium; Joanna Poulton, Hector Garcia-Moreno, Paola Giunti, Carlo

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum

巴勒斯坦原发性纤毛运动障碍人群:诊断和遗传谱的初步结果

Rumman, Nisreen; Fassad, Mahmoud R; Driessens, Corine; Goggin, Patricia; Abdelrahman, Nader; Adwan, Adel; Albakri, Mutaz; Chopra, Jagrati; Doherty, Regan; Fashho, Bishara; Freke, Grace M; Hasaballah, Abdallah; Jackson, Claire L; Mohamed, Mai A; Abu Nema, Reda; Patel, Mitali P; Pengelly, Reuben J; Qaaqour, Ahmad; Rubbo, Bruna; Thomas, N Simon; Thompson, James; Walker, Woolf T; Wheway, Gabrielle; Mitchison, Hannah M; Lucas, Jane S

Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations

气道内纤毛运输缺陷是 IFT74 突变引起的运动性纤毛病和原发性纤毛病综合征的根本原因

Mahmoud R Fassad, Nisreen Rumman, Katrin Junger, Mitali P Patel, James Thompson, Patricia Goggin, Marius Ueffing, Tina Beyer, Karsten Boldt, Jane S Lucas, Hannah M Mitchison

CFAP300 mutation causing primary ciliary dyskinesia in Finland

CFAP300 突变导致芬兰原发性纤毛运动障碍

Rüdiger Schultz, Varpu Elenius, Mahmoud R Fassad, Grace Freke, Andrew Rogers, Amelia Shoemark, Tiina Koistinen, Mai A Mohamed, Jacqueline S Y Lim, Hannah M Mitchison, Anu I Sironen