Publications by authors named "Saad Alshahwan"

17Publications

Novel Homozygous Mutation of the AIMP1 Gene: A Milder Neuroimaging Phenotype With Preservation of the Deep White Matter.

Pediatr Neurol 2019 02 25;91:57-61. Epub 2018 Sep 25.

Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Electronic address:

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February 2019

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

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.

Pediatr Neurol 2017 Jun 5;71:24-28. Epub 2017 Apr 5.

Division of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Electronic address:

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June 2017

Sepiapterin reductase deficiency: Report of 5 new cases.

Eur J Paediatr Neurol 2017 May 29;21(3):583-586. Epub 2017 Jan 29.

Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Electronic address:

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May 2017

Acute psychosis in children: do not miss immune-mediated causes.

Neurosciences (Riyadh) 2016 Jul;21(3):252-5

Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.

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July 2016

Further Delineation of the ALG9-CDG Phenotype.

JIMD Rep 2016 10;27:107-12. Epub 2015 Oct 10.

Divisions of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

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May 2016

Severe CNS involvement in WWOX mutations: Description of five new cases.

Am J Med Genet A 2015 Dec 8;167A(12):3209-13. Epub 2015 Sep 8.

Pediatric Neuroradiology, Children Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, Pennsylvania.

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December 2015

Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone.

Eur J Paediatr Neurol 2015 Sep 12;19(5):547-52. Epub 2015 Jun 12.

Divisions of Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

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September 2015

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

Am J Hum Genet 2008 Jun 22;82(6):1281-9. Epub 2008 May 22.

Department of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milano, Italy.

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June 2008

Cephalosporin-induced nonconvulsive status epilepticus in a uremic child.

Pediatr Neurol 2004 Feb;30(2):135-9

Division of Pediatric Neurology, Department of Pediatrics, Riyadh Armed Forces Hospital, Riyadh, Saudi Arabia.

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February 2004