Mohammad A Al-Muhaizea - King Faisal Specialist Hosp & Res Ctr, Riyadh, Saudi Arabia

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Papers共 32 篇Author StatisticsCo-AuthorSimilar Experts

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A Novel Missense Mutation in ISCA2 Causes Aberrant Splicing and Leads to Multiple Mitochondrial Dysfunctions Syndrome 4

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

Frontiers in psychiatry (2024): 1428175-1428175

Cited0Views0WOSBibtex

Genetic Risk of Axonal Neuropathy Following Infection

Robert Harkness,John H McDermott, Shea Marsden, Peter Jamieson,Kay A Metcalfe,Naz Khan,William L Macken,Robert DS Pitceathly, Christopher J Record, Reza Maroofian, Kloepa Kloepas,Ataf Sabir, Saicat Sintra, Enise Avci Durmusalioglu,Tahir Atik,Esra Isik, Ozgur Cogulu,Jill E Urquhart, Glenda Beaman,Leigh AM Demain, Adam Jackson, Alexander JM Blakes,Helen J Byers, Hayley Bennett, Wei-Hsiang Lin, Antony Adamson, Sanjai Patel, Wyatt Yue,Robert W Taylor,Janine Reunert,Thorsten Marquardt, Rebecca Buchert,Tobias Haack, Heike Losch,Lukas Ryba, Petra Lassuthova, Radka Valkovicova, Jana Haverlova, Barbora Lauerova, Eva Trusikova,Kiran Polavarapu, Ozge Aksel Kilocarslan, Hanns Lockmuller,Saeid Sadeghian,Mina Zamani, Niloofar Chamanrou,Gholamreza Shariati, Reza Azizimalamiri,Sateesh Maddirevula,Mohammad AlMuhaizea,Fowzan S Alkuraya,Rita Horvath,Serdal Gungor,Emma Wakeling,Adnan Manzur, Pinki Munot, Rachael Matthews,Siddharth Banka,Mary Reilly, Daimark Bennett, Raymond T O'Keefe,William G Newman

medrxiv（2024）

Cited0Views0Bibtex

Expanding the Phenotypic and Genotypic Spectrum of GGPS1 Related Congenital Muscular Dystrophy

Ruqaiah Altassan,Hanan Alqudairy, Sarah Aljebreen,Mohammed Almuhaizea,Hindi Al-Hindi,Karla A. Pena-Guerra,Hazem Ghebeh, Amer Almzroua,Albandary Albakheet,Mazhor Aldosary,Dilek Colak,Stefan T. Arold,Namik Kaya

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2024）

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SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature

Aljouhra AlHargan,Mohammed A. AlMuhaizea,Rawan Almass,Ali H. Alwadei,Maha Daghestani,Stefan T. Arold,Namik Kaya

Human genome variationno. 1 (2023): 7-5

Cited2Views0WOSNATUREBibtex

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Ruizhi Deng,Eva Medico-Salsench,Anita Nikoncuk,Reshmi Ramakrishnan,Kristina Lanko,Nikolas A. Kühn,Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi,Soheil Yousefi,Ivan Capo,Evita Medici van den Herik,Marjon van Slegtenhorst,Rick van Minkelen,Geert Geeven,Monique T. Mulder,George J. G. Ruijter,Dieter Lütjohann,Edwin H. Jacobs,Henry Houlden,Alistair T. Pagnamenta,Kay Metcalfe,Adam Jackson,Siddharth Banka,Lenika De Simone,Abigail Schwaede,Nancy Kuntz,Timothy Blake Palculict,Safdar Abbas,Muhammad Umair,Mohammed AlMuhaizea,Dilek Colak,Hanan AlQudairy,Maysoon Alsagob,Catarina Pereira,Roberta Trunzo,Vasiliki Karageorgou,Aida M. Bertoli-Avella,Peter Bauer,Arjan Bouman,Lies H. Hoefsloot,Tjakko J. van Ham,Mahmoud Issa,Maha S. Zaki,Joseph G. Gleeson,Rob Willemsen,Namik Kaya,Stefan T. Arold,Reza Maroofian,Leslie E. Sanderson,Tahsin Stefan Barakat

Acta neuropathologica（2023）

Cited1Views0WOSBibtex

Bi-allelic variants in HOPS subunit VPS41 cause cerebellar ataxia and point to differential lysosomal dysregulation in brain cell types

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

Cited0Views0Bibtex

RAINBOWFISH: Preliminary Efficacy and Safety Data in Risdiplam-Treated Infants with Presymptomatic SMA

Richard S. Finkel,Michelle A. Farrar,Dmitry Vlodavets,Laurent Servais,Edmar Zanoteli,Mohammad Al-Muhaizea,Leslie Nelson,Alexandra Prufer,Yi Wang, Carolyn Fisher,Marianne Gerber,Ksenija Gorni,Heidemarie Kletzl,Laura Palfreeman,Renata Scalco,Enrico Bertini

NEUROLOGY（2022）

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Dystrophin Protein Quantification As a Duchenne Muscular Dystrophy Diagnostic Biomarker in Dried Blood Spots Using Multiple Reaction Monitoring Tandem Mass Spectrometry: A Preliminary Study

Refat M. Nimer,Khalid M. Sumaily,Arwa Almuslat,Mai Abdel Jabar,Essa M. Sabi,Mohammad A. Al-Muhaizea,Anas M. Abdel Rahman

Molecules/Molecules online/Molecules annual（2022）

Cited3Views0WOSBibtex

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

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

BRAIN（2021）

Cited27Views0WOSBibtex

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