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

Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

NDUFAF6 相关线粒体疾病的神经系统表现和基因型-表型相关性。

Torraco Alessandra, Alston Charlotte L, Barcia Giulia, Verrigni Daniela, Rizza Teresa, Di Nottia Michela, Altobelli Anastasia, Martinelli Diego, Diodato Daria, Efthymiou Stephanie, Kose Melis, Kriouile Yamna, Lim Albert Z, Morlino Silvia, Siri Barbara, Saadi Nebal Waill, Novelli Antonio, Houlden Henry, Dionisi-Vici Carlo, McFarland Robert, Rötig Agnès, Bertini Enrico, Taylor Robert W, Carrozzo Rosalba

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

Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54

扩大联合氧化磷酸化缺陷的基因型谱 54

Lai, King Lam; Smith, Thomas B; Maroofian, Reza; Zaki, Maha S; Ramadesikan, Swetha; Reynolds, Tamara; Koboldt, Daniel C; Hunter, Jesse M; Vidaurre, Jorge; Atanasova, Mihaela; Marsden, Brian D; Yue, Wyatt W; Houlden, Henry; Taylor, Robert W; Newman, William G; O'Keefe, Raymond T

Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease

线粒体捐赠在mtDNA疾病生殖治疗途径中的应用

McFarland, Robert; Hyslop, Louise A; Feeney, Catherine; Pillai, Rekha N; Blakely, Emma L; Moody, Eilis; Prior, Matthew; Devlin, Anita; Taylor, Robert W; Herbert, Mary; Choudhary, Meenakshi; Stewart, Jane A; Turnbull, Douglass M

Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease

阐明儿童和成人原发性线粒体疾病中小脑变性的机制

Smith, Laura A; Olkhova, Elizaveta A; Lax, Nichola Z; Ng, Yi Shiau; Taylor, Robert W; Gorman, Grainne S; Erskine, Daniel; McFarland, Robert

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

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

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

NDUFA13双等位基因变异会导致神经发育表型,并伴有逐渐加重的神经功能障碍。

Kaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Ghayoor Karimiani, Ehsan; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Vahidi Mehrjardi, Mohammad Yahya; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; McFarland, Robert; Abdel-Hamid, Mohamed S; Elhossini, Rasha M; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W; Maroofian, Reza

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency

NDUFA9 双等位基因变异会导致进行性神经发育障碍,其主要特征是肌张力障碍和线粒体复合物 I 缺乏。

Magrinelli, Francesca; Taylor, Lucie S; Sedighzadeh, Sahar; Moualek, Dalila; Severino, Mariasavina; Grba, Daniel N; Alston, Charlotte L; Champion, Michael; Tavasoli, Ali Reza; Lascelles, Karine; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Fateh, Sahand Tehrani; Kordi-Tamandani, Mohammad; Khajeh, Ali; Yaghoubi, Saeedeh; Dominik, Natalia; Babaei, Meisam; Javadzadeh, Mohsen; Varaghchi, Jamileh Rezazadeh; Miryounesi, Mohammad; Ghayoor Karimiani, Ehsan; Tazir, Meriem; Ali Pacha, Lamia; Bhatia, Kailash P; Taylor, Robert W; Houlden, Henry; Maroofian, Reza

ATH-1105 mitigates multiple pathologies in ALS models both alone and in combination with riluzole.

ATH-1105 单独使用或与利鲁唑联合使用,均可缓解 ALS 模型中的多种病理症状。

Berthiaume Andrée-Anne, Kleist Kayla N, Reda Sherif M, Setti Sharay E, Wu Wei, Johnston Jewel L, Taylor Robert W, Stein Liana R, Church Kevin J