Publications by authors named "Mohammad AlMuhaizea"

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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

Nat Med· December 2025

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Pioneering SMA therapies for all types: survival gains, cost dynamics, and performance-based agreements.
Ahmed Al-Jedai, Hajer Al-Mudaiheem, AlJohara AlSakran, Fahad A Bashiri, Fouad Ghamdi, Mohammad A Almuhaizea

Cost Eff Resour Alloc· August 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

N Engl J Med· August 2025

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A novel missense mutation in causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.
Zuhair Al-Hassnan, Mazhor AlDosary, Aljouhra AlHargan, Hanan AlQudairy, Rawan Almass, Mohammad A Almuhaizea

Front Psychiatry· October 2024

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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

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

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

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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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

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

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

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

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

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

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

OMICS· March 2020

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Tuberous Sclerosis Complex: Clinical Spectrum and Epilepsy: A Retrospective Chart Review Study.
Sulaiman Almobarak, Mohammad Almuhaizea, Musaad Abukhaled, Suad Alyamani, Omar Dabbagh

Transl Neurosci· November 2018

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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

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

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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