Publications by authors named "Mohammad Al Muhaizea"

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Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial.
Crystal M Proud, Dũng Chí Vũ, Jo M Wilmshurst, Oranee Sanmaneechai, Sheffali Gulati, Mohammad A Al-Muhaizea

Nat Med· December 2025

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Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.
Hanan AlQudairy, Mohammad A AlMuhaizea, Mohamed Tohary, Maissa Alfuraih, Aisha Alnafisah

Orphanet J Rare Dis· August 2025

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Risdiplam in Presymptomatic Spinal Muscular Atrophy.
Richard S Finkel, Laurent Servais, Dmitry Vlodavets, Edmar Zanoteli, Maria Mazurkiewicz-Bełdzińska, Mohammad Al-Muhaizea

N Engl J Med· August 2025

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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

Molecules· June 2022

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The morbid genome of ciliopathies: an update.
Hanan E Shamseldin, Ranad Shaheen, Nour Ewida, Dalal K Bubshait, Hisham Alkuraya, Mohammad A Al-Muhaizea

Genet Med· April 2022

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Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Eva Medico Salsench, Reza Maroofian, Ruizhi Deng, Kristina Lanko, Anita Nikoncuk, Mohammad AlMuhaizea

Brain· November 2021

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Phenotypic Variability of Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.
Mohammad AlMuhaizea, Omar Dabbagh, Hanan AlQudairy, Aljouhra AlHargan, Wafa Alotaibi

Genes (Basel)· November 2021

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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, Mohammad A Al-Muhaizea

Brain· April 2021

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Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy.
Haya S AlFaris, Ghasan Elhissi, Aziza Chedrawi, Mohammad A Al-Muhaizea

Int J Pediatr Adolesc Med· March 2021

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Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.
Fadie D Altuame, Chad Haldeman-Englert, Edward Cupler, Mohammad A Al Muhaizea, Hamad I Al-Zaidan

Am J Med Genet A· February 2021

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Consensus Statement on the Management of Duchenne Muscular Dystrophy in Saudi Arabia During the Coronavirus Disease 2019 Pandemic.
Ahmed K Bamaga, Fouad Alghamdi, Nahla Alshaikh, Waleed Altwaijri, Fahad A Bashiri, Mohammad A Al-Muhaizea

Front Pediatr· February 2021

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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Hui Guo, Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Mohammad A Al-Muhaizea

Am J Hum Genet· November 2020

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Erratum: A consensus statement on spinal muscular atrophy management in Saudi Arabia in the context of COVID-19.
Fouad Alghamdi, Nahla Alshaikh, Ahmed K Bamaga, Fahad A Bashiri, Khalid Hundallah, Mohammad Al-Muhaizea

Neurosciences (Riyadh)· October 2020

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Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.
Mohammad A Al-Muhaizea, Laila AlQuait, Afnan AlRasheed, Shoug AlHarbi, Anoud Abdulmalik Albader

Neuromuscul Disord· July 2020

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A consensus statement on spinal muscular atrophy management in Saudi Arabia in the context of COVID-19.
Fouad Alghamdi, Nahla Alshaikh, Ahmed K Bamaga, Fahad A Bashiri, Khalid Hundullah, Mohammad A Al-Muhaizea

Neurosciences (Riyadh)· July 2020

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The morbid genome of ciliopathies: an update.
Hanan E Shamseldin, Ranad Shaheen, Nour Ewida, Dalal K Bubshait, Hisham Alkuraya, Mohammad A Al-Muhaizea

Genet Med· June 2020

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The natural history of infantile neuroaxonal dystrophy.
Fadie D Altuame, Gretchen Foskett, Paldeep S Atwal, Sarah Endemann, Mark Midei, Mohammad Al-Muhaizea

Orphanet J Rare Dis· May 2020

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Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
Mazhor Aldosary, AlBandary Al-Bakheet, Hesham Al-Dhalaan, Rawan Almass, Maysoon Alsagob, Mohammad A Al-Muhaizea

OMICS· March 2020

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Current management of Duchenne muscular dystrophy in the Middle East: expert report.
Mohammed Al Jumah, Mohammad Al Muhaizea, Ahmed Al Rumayyan, Abdulaziz Al Saman, Ali Al Shehri

Neurodegener Dis Manag· June 2019

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Autozygome and high throughput confirmation of disease genes candidacy.
Sateesh Maddirevula, Fatema Alzahrani, Mohammed Al-Owain, Mohammad A Al Muhaizea, Husam R Kayyali

Genet Med· March 2019

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Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins.
Shimaa Eissa, Nawal Alshehri, Mai Abduljabbar, Anas M Abdel Rahman, Majed Dasouki, Mohammad A Al-Muhaizea

Biosens Bioelectron· October 2018

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A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
Mohammad A Al-Muhaizea, Faten AlMutairi, Rawan Almass, Safinaz AlHarthi, Mazhor S Aldosary

Cerebellum· June 2018

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Zuhair Alhassnan, Maha Alotaibi, Mohammad A Al-Muhaizea

Hum Genet· August 2017

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COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review.
Mohammad A Al-Muhaizea, Sulaiman Bazee Al-Mobarak

Transl Neurosci· July 2017

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Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.
Abdulaziz Al-Semari, Salma M Wakil, Mohammad A Al-Muhaizea, Mohammed Dababo, Rana Al-Amr

Clin Dysmorphol· January 2013

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