Publications by authors named "Mohammad A Al-Muhaizea"

15Publications

Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.

Authors:
Fadie D Altuame Chad Haldeman-Englert Edward Cupler Mohammad A Al Muhaizea Hamad I Al-Zaidan Mais Hashem Fowzan S Alkuraya

Am J Med Genet A 2020 Nov 11. Epub 2020 Nov 11.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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November 2020

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

Authors:
Hui Guo Qiumeng Zhang Rujia Dai Bin Yu Kendra Hoekzema Jieqiong Tan Senwei Tan Xiangbin Jia Wendy K Chung Rebecca Hernan Fowzan S Alkuraya Ahood Alsulaiman Mohammad A Al-Muhaizea Gaetan Lesca Linda Pons Audrey Labalme Linda Laux Emily Bryant Natasha J Brown Elena Savva Samantha Ayres Dhamidhu Eratne Hilde Peeters Frédéric Bilan Lucile Letienne-Cejudo Brigitte Gilbert-Dussardier Inge-Lore Ruiz-Arana Jenny Meylan Merlini Alexia Boizot Lucia Bartoloni Federico Santoni Danielle Karlowicz Marie McDonald Huidan Wu Zhengmao Hu Guodong Chen Jianjun Ou Charlotte Brasch-Andersen Christina R Fagerberg Inken Dreyer Anne Chun-Hui Tsai Valerie Slegesky Rose B McGee Brina Daniels Elizabeth A Sellars Lori A Carpenter Bradley Schaefer Maria J Guillen Sacoto Amber Begtrup Rhonda E Schnur Sumit Punj Ingrid M Wentzensen Lindsay Rhodes Qian Pan Raphael A Bernier Chao Chen Evan E Eichler Kun Xia

Am J Hum Genet 2020 11;107(5):963-976

Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China; Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, Hunan 410078, China; CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai 200000, China. Electronic address:

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November 2020

A consensus statement on spinal muscular atrophy management in Saudi Arabia in the context of COVID-19.

Authors:
Fouad Alghamdi Nahla Alshaikh Ahmed K Bamaga Fahad A Bashiri Khalid Hundullah Ali Alshehri Mohammad A Al-Muhaizea Abdulaziz Al-Saman

Neurosciences (Riyadh) 2020 07;25(3):230-237

Neuroscience Center, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia. E-mail:

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July 2020

Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.

Authors:
Mohammad A Al-Muhaizea Laila AlQuait Afnan AlRasheed Shoug AlHarbi Anoud Abdulmalik Albader Rawan AlMass Albandary Albakheet Abdullah Alhumaidan Maha M AlRasheed Dilek Colak Namik Kaya

Neuromuscul Disord 2020 07 15;30(7):611-615. Epub 2020 May 15.

Department of Genetics, Senior Scientist and Head, Cognitive Genetics Unit, KFSHRC, MBC 03, Riyadh 11211, Saudi Arabia. Electronic address:

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July 2020

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.

Authors:
Mazhor Aldosary AlBandary Al-Bakheet Hesham Al-Dhalaan Rawan Almass Maysoon Alsagob Banan Al-Younes Laila AlQuait Osama Mufid Mustafa Mustafa Bulbul Zuhair Rahbeeni Majid Alfadhel Aziza Chedrawi Zuhair Al-Hassnan Mohammed AlDosari Hamad Al-Zaidan Mohammad A Al-Muhaizea Moeenaldeen D AlSayed Mustafa A Salih Mai AlShammari Muhammad Faiyaz-Ul-Haque Mohammad Azhar Chishti Olfat Al-Harazi Ali Al-Odaib Namik Kaya Dilek Colak

OMICS 2020 03 27;24(3):160-171. Epub 2020 Feb 27.

Department of Biostatistics, Epidemiology, and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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March 2020

The morbid genome of ciliopathies: an update.

Authors:
Hanan E Shamseldin Ranad Shaheen Nour Ewida Dalal K Bubshait Hisham Alkuraya Elham Almardawi Ali Howaidi Yasser Sabr Ebtesam M Abdalla Abdullah Y Alfaifi Jameel Mohammed Alghamdi Afaf Alsagheir Ahmed Alfares Heba Morsy Maged H Hussein Mohammad A Al-Muhaizea Mohammad Shagrani Essam Al Sabban Mustafa A Salih Neama Meriki Rubina Khan Maisoon Almugbel Alya Qari Maha Tulba Mohammed Mahnashi Khalid Alhazmi Abrar K Alsalamah Sawsan R Nowilaty Amal Alhashem Mais Hashem Firdous Abdulwahab Niema Ibrahim Tarfa Alshidi Eman AlObeid Mona M Alenazi Hamad Alzaidan Zuhair Rahbeeni Mohammed Al-Owain Sameera Sogaty Mohammed Zain Seidahmed Fowzan S Alkuraya

Genet Med 2020 Jun 14;22(6):1051-1060. Epub 2020 Feb 14.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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June 2020

Autozygome and high throughput confirmation of disease genes candidacy.

Authors:
Sateesh Maddirevula Fatema Alzahrani Mohammed Al-Owain Mohammad A Al Muhaizea Husam R Kayyali Amal AlHashem Zuhair Rahbeeni Maha Al-Otaibi Hamad I Alzaidan Ameera Balobaid Heba Y El Khashab Dalal K Bubshait Maha Faden Suad Al Yamani Omar Dabbagh Mariam Al-Mureikhi Abdulla Al Jasser Hessa S Alsaif Iram Alluhaydan Mohammed Zain Seidahmed Bashair Hamza Alabbasi Ibrahim Almogarri Wesam Kurdi Hana Akleh Alya Qari Saeed M Al Tala Suzan Alhomaidi Amal Y Kentab Mustafa A Salih Aziza Chedrawi Seham Alameer Brahim Tabarki Hanan E Shamseldin Nisha Patel Niema Ibrahim Firdous Abdulwahab Menasria Samira Ewa Goljan Mohamed Abouelhoda Brian F Meyer Mais Hashem Ranad Shaheen Saad AlShahwan Majid Alfadhel Tawfeg Ben-Omran Mohammad M Al-Qattan Dorota Monies Fowzan S Alkuraya

Genet Med 2019 03 21;21(3):736-742. Epub 2018 Sep 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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March 2019

Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins.

Authors:
Shimaa Eissa Nawal Alshehri Mai Abduljabbar Anas M Abdel Rahman Majed Dasouki Imran Y Nizami Mohammad A Al-Muhaizea Mohammed Zourob

Biosens Bioelectron 2018 Oct 28;117:84-90. Epub 2018 May 28.

Department of Chemistry, Alfaisal University, Al Zahrawi Street, Al Maather, Al Takhassusi Road, Riyadh 11533, Saudi Arabia; Department of Genetics, King Faisal Specialist Hospital and Research Center, Zahrawi Street, Al Maather, Riyadh 11211, Saudi Arabia. Electronic address:

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October 2018

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.

Authors:
Mohammad A Al-Muhaizea Faten AlMutairi Rawan Almass Safinaz AlHarthi Mazhor S Aldosary Maysoon Alsagob Ali AlOdaib Dilek Colak Namik Kaya

Cerebellum 2018 Jun;17(3):276-285

Genetics Department, King Faisal Specialist Hospital and Research Center, MBC: 03, Riyadh, 11211, Saudi Arabia.

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June 2018

COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review.

Authors:
Mohammad A Al-Muhaizea Sulaiman Bazee Al-Mobarak

Transl Neurosci 2017 20;8:65-69. Epub 2017 Jul 20.

King Saud University, Riyadh, Saudi Arabia.

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July 2017

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Authors:
Dorota Monies Mohamed Abouelhoda Moeenaldeen AlSayed Zuhair Alhassnan Maha Alotaibi Husam Kayyali Mohammed Al-Owain Ayaz Shah Zuhair Rahbeeni Mohammad A Al-Muhaizea Hamad I Alzaidan Edward Cupler Saeed Bohlega Eissa Faqeih Maha Faden Banan Alyounes Dyala Jaroudi Ewa Goljan Hadeel Elbardisy Asma Akilan Renad Albar Hesham Aldhalaan Shamshad Gulab Aziza Chedrawi Bandar K Al Saud Wesam Kurdi Nawal Makhseed Tahani Alqasim Heba Y El Khashab Hamoud Al-Mousa Amal Alhashem Imaduddin Kanaan Talal Algoufi Khalid Alsaleem Talal A Basha Fathiya Al-Murshedi Sameena Khan Adila Al-Kindy Maha Alnemer Sami Al-Hajjar Suad Alyamani Hasan Aldhekri Ali Al-Mehaidib Rand Arnaout Omar Dabbagh Mohammad Shagrani Dieter Broering Maha Tulbah Amal Alqassmi Maisoon Almugbel Mohammed AlQuaiz Abdulaziz Alsaman Khalid Al-Thihli Raashda A Sulaiman Wajeeh Al-Dekhail Abeer Alsaegh Fahad A Bashiri Alya Qari Suzan Alhomadi Hisham Alkuraya Mohammed Alsebayel Muddathir H Hamad Laszlo Szonyi Faisal Abaalkhail Sulaiman M Al-Mayouf Hamad Almojalli Khalid S Alqadi Hussien Elsiesy Taghreed M Shuaib Mohammed Zain Seidahmed Ibraheem Abosoudah Hana Akleh Abdulaziz AlGhonaium Turki M Alkharfy Fuad Al Mutairi Wafa Eyaid Abdullah Alshanbary Farrukh R Sheikh Fahad I Alsohaibani Abdullah Alsonbul Saeed Al Tala Soher Balkhy Randa Bassiouni Ahmed S Alenizi Maged H Hussein Saeed Hassan Mohamed Khalil Brahim Tabarki Saad Alshahwan Amira Oshi Yasser Sabr Saad Alsaadoun Mustafa A Salih Sarar Mohamed Habiba Sultana Abdullah Tamim Moayad El-Haj Saif Alshahrani Dalal K Bubshait Majid Alfadhel Tariq Faquih Mohamed El-Kalioby Shazia Subhani Zeeshan Shah Nabil Moghrabi Brian F Meyer Fowzan S Alkuraya

Hum Genet 2017 08 9;136(8):921-939. Epub 2017 Jun 9.

Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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August 2017

Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.

Authors:
Abdulaziz Al-Semari Salma M Wakil Mohammad A Al-Muhaizea Mohammed Dababo Rana Al-Amr Fowzan Alkuraya Brian F Meyer

Clin Dysmorphol 2013 Jan;22(1):13-7

Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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January 2013

Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia.

Authors:
Mohammad A Al-Muhaizea Zuhair N Al-Hassnan Aziza Chedrawi

Pediatr Neurol 2009 Jul;41(1):74-6

Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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July 2009

Vanishing white matter in Saudi Arabia.

Authors:
Mansour Y Otaif Mohammad A Al-Muhaizea Fahad Al-Jofan Hesham Al-Dhalaan

Neurosciences (Riyadh) 2008 Oct;13(4):433-6

Section of Pediatric Neurology, Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, Riyadh, Kingdom of Saudi Arabia. E-mail:

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October 2008

Pathologic quiz case: a child with clumsy gait.

Authors:
Mohammad A Al-Muhaizea Richard A Prayson

Arch Pathol Lab Med 2003 Jun;127(6):e273-4

Department of Pediatric Neurology, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.

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June 2003