Publications by authors named "Muddathir H Hamad"

20Publications

Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15).

BMC Neurol 2020 May 25;20(1):207. Epub 2020 May 25.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, P.O. Box 3354, Riyadh, 11211, Kingdom of Saudi Arabia.

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May 2020

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta Neuropathol 2020 03 9;139(3):415-442. Epub 2019 Dec 9.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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March 2020

Assessment of physicians knowledge and attitudes in the management of febrile seizures.

Neurosciences (Riyadh) 2018 Oct;23(4):314-319

Division of Neurology, Department of Pediatrics, College of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail:

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October 2018

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

Idiopathic intracranial hypertension in children: Diagnostic and management approach.

Sudan J Paediatr 2016 ;16(2):67-76

Division of Neurology, Departments of Pediatrics, King Khalid University Hospital, College of Medicine, King Saud University , Riyadh , Saudi Arabia.

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January 2016

Acute poisoning in a child following topical treatment of head lice (pediculosis capitis) with an organophosphate pesticide.

Sudan J Paediatr 2016 ;16(1):63-6

Division of Pediatric Neurology, College of Medicine and King Saud University Medical City, King Saud University , Riyadh , Saudi Arabia.

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September 2016

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.

Saudi Med J 2015 Nov;36(11):1354-7

Department of Pediatrics (39), College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail.

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November 2015

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.

Saudi Med J 2015 Oct;36(10):1229-32

Department of Pediatrics (39), College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail.

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October 2015

Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients.

Saudi Med J 2015 Sep;36(9):1110-4

Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail.

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September 2015

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2015 9;5:306. Epub 2015 Jul 9.

Division of Medical Genetics, Sanford Children's Hospital, Sioux Falls, SD, USA ; Sanford Children's Health Research Center, Sanford Research Sioux Falls, SD, USA ; Sanford Neurogenetics & Neurometabolic Disorders Clinic and Pediatric Movement Disorders Clinic, Division of Pediatric Neurology, Sanford Children's Specialty Clinic Sioux Falls, SD, USA ; Departments of Pediatrics & Neurosciences, Sanford College of Medicine, University of South Dakota, Vermillion, SD, USA ; Department of Chemistry & Biochemistry, South Dakota State University, Brookings, SD, USA ; University of Arizona College of Medicine, Department of Child Health, Phoenix, AZ ; Barrow Neurological Institute and Ronald A. Matricaria Institute for Molecular Medicine, Phoenix Children's Hospital, Phoenix, AZ.

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July 2015

The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature.

Sudan J Paediatr 2014 ;14(2):61-70

(3) Department of Pathology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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August 2016