Publications by authors named "Mohammed AlMuqbil"

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Clinical characteristics and healthcare burden of neurofibromatosis type 1 in Saudi Arabia: a single centre experience.
Mohammed A Almuqbil, Maha Al Ammari, Nada S Al Dhayyan, Seena Thomas Kaithathara, Mohamed Al Balwi

Hered Cancer Clin Pract· November 2025

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Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity.
Aiman S Alhazmi, Areej A Alhareeri, Ali S Alhawas, Essam W Jameel, Faisal S Aleisa, Mohammed A Almuqbil

Neurosciences (Riyadh)· October 2025

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Clinical variability in cerebrotendinous xanthomatosis (CTX): Insights from 16 cases across Gulf Cooperation Council's (GCC's) high consanguineous population.
Mohammed A Almuqbil, Mashael M ALQuaimi, Al Qasim Al-Bahlani, Arif O Khan, Badr Alsaleem

J Clin Lipidol· September 2025

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Adult genomic medicine: lessons from a multisite study of 2700 patients.
Khadijah Bakur, Halima Hamid, Bader Alhaddad, Majid Alfadhel, Amal Alhashem, Mohammed A Almuqbil

Genome Med· September 2025

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Clinical Spectrum of Acquired Demyelinating Syndromes in Children: A Tertiary Hospital Experience.
Mohammed Almuqbil, Lama Aljomah, Nora Almahmoud, Waleed Altuwaijri, Ahmad Alrumayyan

Neurol Ther· August 2025

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Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.
Mohammed Almuqbil, Najla Binsabbar, Shahad Alsaif, Sulaiman Almasoud, Talah Albasry

Children (Basel)· August 2025

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Stiripentol safety profile and efficacy in cases of SCN1A-related Dravet syndrome, multi-center experience, Saudi Arabia.
Alanoud M Almuatiri, Abdulaziz K Alotaibi, Fahad H Alamri, Ali H Alwadei, Lamya A Jad, Mohammed A Almuqbil

Neurosciences (Riyadh)· July 2025

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Effectiveness of social skills training interventions for children with autism spectrum disorder: A systematic review and meta-analysis.
Fatimah S Alahmari, Abdulhadi A Alhabbad, Hussain A Alshamrani, Mohammed A Almuqbil

Saudi Med J· March 2025

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CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia.
Najlaa A Alsubeeh, Mohammed A Almuqbil, William Davies, Aida Bertoli-Avella, Swathi Anikar

Am J Med Genet A· January 2025

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Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience.
Mohammed Almuqbil, Waad Aldoohan, Sara Alhinti, Nora Almahmoud, Imad Abdulmajeed

Neurosciences (Riyadh)· May 2024

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Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One.
Muhammad Talal Alrifai, Yousof Alrumayyan, Duaa Baarmah, Ahmed Alrumayyan, Waleed Altuwaijri, Mohammed AlMuqbil

J Child Neurol· May 2024

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Parkinsonism-dystonia-2: Case-series study from Saudi Arabia.
Mohammed A Almuqbil, Sadia Tabassum, Osama Y Muthaffar, Fouad Ghamdi, Zainab Al Masseri

Ann Clin Transl Neurol· April 2024

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Epidemiology and Outcomes of Neurofibromatosis Type 1 (NF-1): Multicenter Tertiary Experience.
Mohammed Almuqbil, Fatimah Yaseen Alshaikh, Waleed Altwaijri, Duaa Baarmah, Raid Harb Hommady

J Multidiscip Healthc· March 2024

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Estimation of Vitamin D Levels Using a Chairside Diagnostic Test Kit in Patients with Gingivitis and Periodontitis: A Cross-Sectional Study.
Pradeep Koppolu, Abdullah M A Alshahrani, Mohammad A Y Ghawas, Mohammed S A Almuqbil, Lingam A Swapna

J Int Soc Prev Community Dent· October 2023

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Neonatal seizures: Etiologies, clinical characteristics, and radiological features: A cross-sectional study.
Mohammed Almuqbil, Yousof Alrumayyan, Shahad Alattas, Duaa Baarmah, Waleed AlTuwaijri

Medicine (Baltimore)· September 2023

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Effectiveness of intra-thecal methotrexate in refractory Anti-N-methyl-d-aspartate receptor encephalitis.
Raid Hommady, Abdullah Alsohibani, Ruba Alayed, Abdulaziz Alshehri, Ahlam AbuMelha, Mohammed Almuqbil

BMC Neurol· July 2023

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Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions.
Ana Westenberger, Adriana Ruiz-Herrera, Sevcan Bozdoğan, Atil Bisgin, Mohammed Almuqbil

Mov Disord· March 2023

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Orbital pseudotumor in pediatrics: A single tertiary center experience.
Mohammed Almuqbil

Clin Case Rep· March 2023

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Diagnostic Yield of Neuroimaging for Headache in a Pediatric Emergency Department: A Single Tertiary Centre Experience.
Mohammed Almuqbil, Saud Abdulaziz Alsayed, Amer Mohammed Almutairi, Khalid Mohammed Aladhadh, Abdullah Omar Alghannami

Healthcare (Basel)· March 2023

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Clinical Characteristics and Risk Factors of Neonatal Hypoxic-Ischaemic Encephalopathy and Its Associated Neurodevelopmental Outcomes During the First Two Years of Life: A Retrospective Study in Saudi Arabia.
Mohammed AlMuqbil, Jawaher Alanazi, Nada Alsaif, Duaa Baarmah, Waleed Altwaijri

Int J Gen Med· February 2023

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Milder presentation of autosomal dominant fatty acyl CoA reductase 1-related syndrome: Report of the first Middle Eastern patient and review of the literature.
Mohammed Almuqbil, Ahlam AbuMelha, Daniah Albokhari

Clin Case Rep· October 2022

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Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome.
Brittany Hornby, William Reid Thompson, Mohammed Almuqbil, Ryan Manuel, Anthony Abbruscato

Orphanet J Rare Dis· September 2022

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Quality of life in Barth syndrome.
Alexander Y Kim, Hilary Vernon, Ryan Manuel, Mohammed Almuqbil, Brittany Hornby

Ther Adv Rare Dis· June 2022

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Pediatrics COVID-19 and neurological manifestations: Single tertiary centre experience.
Lama Aljomah, Sara Almedlej, Duaa Baarmah, Waleed Altwaijri, Ahmad Alrumayyan, Mohammed Almuqbil

eNeurologicalSci· September 2021

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The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.
Majid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai

Front Pediatr· May 2021

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