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

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4

ISCA2基因中的一种新型错义突变导致异常剪接,进而引发多发性线粒体功能障碍综合征4。

Al-Hassnan, Zuhair; AlDosary, Mazhor; AlHargan, Aljouhra; AlQudairy, Hanan; Almass, Rawan; Alahmadi, Khaled Omar; AlShahrani, Saif; AlBakheet, Albandary; Almuhaizea, Mohammad A; Taylor, Robert W; Colak, Dilek; Kaya, Namik

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

沙特阿拉伯两个近亲家庭中发现RTN4IP1基因的新型纯合创始变异

Mazhor Aldosary ,Maysoon Alsagob ,Hanan AlQudairy ,Ana C González-Álvarez ,Stefan T Arold ,Mohammad Anas Dababo ,Omar A Alharbi ,Rawan Almass ,AlBandary AlBakheet ,Dalia AlSarar ,Alya Qari ,Mysoon M Al-Ansari ,Monika Oláhová ,Saif A Al-Shahrani ,Moeenaldeen AlSayed ,Dilek Colak ,Robert W Taylor ,Mohammed AlOwain ,Namik Kaya

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

HOPS复合物亚基VPS41的双等位基因变异会导致小脑共济失调和膜转运异常。

Sanderson, Leslie E; Lanko, Kristina; Alsagob, Maysoon; Almass, Rawan; Al-Ahmadi, Nada; Najafi, Maryam; Al-Muhaizea, Mohammad A; Alzaidan, Hamad; AlDhalaan, Hesham; Perenthaler, Elena; van der Linde, Herma C; Nikoncuk, Anita; Kühn, Nikolas A; Antony, Dinu; Owaidah, Tarek Mustafa; Raskin, Salmo; Vieira, Luana Gabriela Dalla Rosa; Mombach, Romulo; Ahangari, Najmeh; Silveira, Tainá Regina Damaceno; Ameziane, Najim; Rolfs, Arndt; Alharbi, Aljohara; Sabbagh, Raghda M; AlAhmadi, Khalid; Alawam, Bashayer; Ghebeh, Hazem; AlHargan, Aljouhra; Albader, Anoud A; Binhumaid, Faisal S; Goljan, Ewa; Monies, Dorota; Mustafa, Osama M; Aldosary, Mazhor; AlBakheet, Albandary; Alyounes, Banan; Almutairi, Faten; Al-Odaib, Ali; Aksoy, Durdane Bekar; Basak, A Nazli; Palvadeau, Robin; Trabzuni, Daniah; Rosenfeld, Jill A; Karimiani, Ehsan Ghayoor; Meyer, Brian F; Karakas, Bedri; Al-Mohanna, Futwan; Arold, Stefan T; Colak, Dilek; Maroofian, Reza; Houlden, Henry; Bertoli-Avella, Aida M; Schmidts, Miriam; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kaya, Namik

SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

SLC25A42 相关线粒体脑肌病:更多创始病例报告和新缺失的功能特征

Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab AlMasseri, Rozeena Huma, Laila AlQuait, Tarfa Al-Shidi, Eman Al-Obeid, Albandary AlBakheet, Basma Alahideb, Lujane Alahaidib, Alya Qari, Robert W Taylor, Dilek Colak, Moeenaldeen D AlSayed, Namik Kaya

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy

m.13051G>A 线粒体 DNA 突变导致神经系统症状各异,并激活线粒体自噬。

Dombi, Eszter; Diot, Alan; Morten, Karl; Carver, Janet; Lodge, Tiffany; Fratter, Carl; Ng, Yi Shiau; Liao, Chunyan; Muir, Rebecca; Blakely, Emma L; Hargreaves, Iain; Al-Dosary, Mazhor; Sarkar, Gopa; Hickman, Simon J; Downes, Susan M; Jayawant, Sandeep; Yu-Wai-Man, Patrick; Taylor, Robert W; Poulton, Joanna

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

KCNA4 缺乏症会导致纹状体异常、先天性白内障和智力障碍等综合征。

Kaya, Namik; Alsagob, Maysoon; D'Adamo, Maria Cristina; Al-Bakheet, Albandary; Hasan, Sonia; Muccioli, Maria; Almutairi, Faten B; Almass, Rawan; Aldosary, Mazhor; Monies, Dorota; Mustafa, Osama M; Alyounes, Banan; Kenana, Rosan; Al-Zahrani, Jawaher; Naim, Eva; Binhumaid, Faisal S; Qari, Alya; Almutairi, Fatema; Meyer, Brian; Plageman, Timothy F; Pessia, Mauro; Colak, Dilek; Al-Owain, Mohammed

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay

NALCN基因突变会导致一种常染色体隐性遗传综合征,其特征为严重的肌张力低下、语言障碍和认知发育迟缓。

Al-Sayed, Moeenaldeen D; Al-Zaidan, Hamad; Albakheet, Albandary; Hakami, Hana; Kenana, Rosan; Al-Yafee, Yusra; Al-Dosary, Mazhor; Qari, Alya; Al-Sheddi, Tarfa; Al-Muheiza, Muhammed; Al-Qubbaj, Wafa; Lakmache, Yamina; Al-Hindi, Hindi; Ghaziuddin, Muhammad; Colak, Dilek; Kaya, Namik

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

p.M292T NDUFS2 突变导致多个家族出现复合物 I 缺陷型 Leigh 综合征

Helen A L Tuppen, Vanessa E Hogan, Langping He, Emma L Blakely, Lisa Worgan, Mazhor Al-Dosary, Gabriele Saretzki, Charlotte L Alston, Andrew A Morris, Michael Clarke, Simon Jones, Anita M Devlin, Sahar Mansour, Zofia M A Chrzanowska-Lightowlers, David R Thorburn, Robert McFarland, Robert W Taylor