MuhammadTalalAlrifaiMD

PubMed

• 11 citations
  Pediatrics COVID-19 and neurological manifestations: Single tertiary centre experience
  Lama Aljomah, Sara Almedlej, Duaa Ba-Armah, Waleed Al-Twaijri, Ahmad AlRumayyan, Muhammad Talal Alrifai, Mohammed Almuqbil, Mohammad Alshalaan> ;Eneurologicalsci. 2021 Jul 9
• 12 citations
  The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.
  Majid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshu...> ;Frontiers in Pediatrics. 2021 May 13
• 13 citations
  Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
  Ashfaque Ahmed, Meng Wang, Gaber Bergant, Reza Maroofian, Rongjuan Zhao, Majid Alfadhel, Marwan Nashabat, Muhammad Talal Alrifai, Wafaa Eyaid, Abdulrahman Alswaid, Chr...> ;Human Genetics. 2021 Apr 1
• 17 citations
  Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia.
  Fahad A. Bashiri, Sultan Al Johani, Muddathir H. Hamad, Amal Y. Kentab, Ali H Alwadei, Khalid Hundallah, Hamdi H Hasan, Walaa Alshuaibi, Lamyaa Jad, Muhammad Talal Alr...> ;Frontiers in Pediatrics. 2020 Oct 9
• 20 citations
  EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
  Muhammad Umair, Mariam Ballow, Abdulaziz Asiri, Yusra Alyafee, Abeer Al Tuwaijri, Kheloud M. Alhamoudi, Taghrid Aloraini, Marwa Abdelhakim, Azza Thamer Althagafi, Sena...> ;Clinical Genetics. 2020 Sep 15
• 2 citations
  Genomic testing and counseling: The contribution of next generation sequencing to epilepsy genetics
  Lamia Alsubaie, Taghrid Aloraini, Manal Amoudi, Abdulrahman Swaid, Wafaa Eyiad, Fuad Al Mutairi, Farouq Ababneh, Muhammad Talal Alrifai, Duaa Ba-Armah, Waleed Al-Twaij...> ;Annals of Human Genetics. 2020 Jun 13
• 1 citations
  The comorbidity of headaches in pediatric epilepsy patients: How common and what types?
  Hanin Al-Gethami, Talal Alrifai Muhammad, Ahmed Al-Rumayyan, Waleed Altuwaijri, Duaa Ba-Armah> ;Neurosciences. 2019 Oct 1
• 30 citations
  Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
  Majid Alfadhel, Muhammad Umair, Bader Almuzzaini, Saif Alsaif, Sulaiman A. AlMohaimeed, Maher Almashary, Wardah Alharbi, Latifah Alayyar, Abdulrahman AlAsiri, Mariam B...> ;Annals of Clinical and Translational Neurology. 2019 Sep 26
• Clinical Presentation and outcome of acute disseminated encephalomyelitis in Saudi Arabia. Tertiary Center Experience.
  Bander Ali Aldamkh, Abdalaziz F. Alamer, Mohammed M. Altuwaijri, Mohammed A. Alrumayyan, Abdulaziz H. Alhaqbani, Nawaf A. Alharthi, Saeed A. Aldamkh, Amjad S. Aldrees,...> ;Neurosciences. 2019 Apr 1
• 7 citations
  Prevalence and outcomes of Guillain-Barré syndrome among pediatrics in Saudi Arabia: a 10-year retrospective study.
  Safiyyah Ahmed Asiri, Waleed Al-Twaijri, Duaa Ba-Armah, Ahmed Al Rumayyan, Muhammad Talal Alrifai, Mahmoud Salam, Adel F. Almutairi> ;Neuropsychiatric Disease and Treatment. 2019 Mar 1
• 4 citations
  Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.
  Afnan Alghamdi, Muhammad Talal Alrifai, Abdullah I. Al Hammad, Fuad Al Mutairi, Abdulrahman Alswaid, Wafaa Eyaid, Majid Alfadhel> ;Journal of Child Neurology. 2018 Jul 17
• 8 citations
  Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
  Maha A. Al-Rakan, Manal D. Abothnain, Muhammad Talal Alrifai, Majid Alfadhel> ;BMC Ophthalmology. 2018 Jun 22
• 15 citations
  Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.
  Saud Alsahli, Muhammad Talal Alrifai, Saeed Al Tala, Fuad Al Mutairi, Majid Alfadhel> ;Journal of Central Nervous System Disease. 2018 Feb 28
• 19 citations
  Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases
  Majid Alfadhel, Marwan Nashabat, Muhammad Talal Alrifai, Hesham Alshaalan, Fuad Al Mutairi, Saif Alshahrani, Barbara Plecko, Rawan Almass, Maysoon Alsagob, Faten B. Al...> ;European Journal of Paediatric Neurology. 2018 Jan 1
• 7 citations
  Retrospective review of pediatric status epilepticus in 116 Saudi patients: predictors of outcome.
  Raid Harb Hommady, Muhammad Talal Alrifai, Osama Khaled Mubayrik, Ruba Salem Alayed, Muhannad Alsemari, Ahmed Arumayyan, Waleed Altuwaijri, Duaa Ba-Armah> ;Annals of Saudi Medicine. 2017 Nov 1
• 15 citations
  X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
  Amna Malik, Ahmed Bait Amer, Mohammed Salama, Bander Abdullah Haddad, Muhammad Talal Alrifai, Mohammed Al Balwi, William Davies, Wafaa Eyaid> ;Journal of Medical Case Reports. 2017 Sep 22
• 52 citations
  A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
  Ahmed Alfares, Majid Alfadhel, Tariq Wani, Saud Alsahli, Iram Alluhaydan, Fuad Al Mutairi, Ali Alothaim, Mohammed AlBalwi, Lamia Al subaie, Saeed Alturki, Waleed Al-Tw...> ;Molecular Genetics and Metabolism. 2017 Jun 1
• 26 citations
  Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans
  Majid Alfadhel, Marwan Nashabat, Hanan Al Qahtani, Ahmed Alfares, Fuad Al Mutairi, Hesham Mohammed Al Shaalan, Ganka Douglas, Klaas J. Wierenga, Jane Juusola, Muhammad...> ;Human Genetics. 2016 Aug 1
• 22 citations
  Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency.
  Muhammad Talal Alrifai, Majid Alfadhel> ;Pediatric Neurology. 2016 May 1
• 39 citations
  Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.
  Majid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano, Hesham Alshaalan, Ali Al Othaim, Shatha Al Rasheed, Hussam Assiri, Abdulrhman A. Alqahtani, Manal Alaamery, ...> ;JIMD Reports. 2015 Jan 1
• 16 citations
  Hereditary Neurometabolic Causes of Infantile Spasms in 80 Children Presenting to a Tertiary Care Center
  Muhammad Talal Alrifai, Mohammed Abdullah AlShaya, Ahmad Abulaban, Majid Alfadhel> ;Pediatric Neurology. 2014 Sep 1
• 44 citations
  ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
  Emma A Webb, Angham Almutair, Daniel Kelberman, Chiara Bacchelli, Estelle Chanudet, Francesco Lescai, Cynthia L. Andoniadou, Abdul Banyan, Al Alsawaid, Muhammad Talal ...> ;Brain. 2013 Oct 1
• 4 citations
  Pseudotumor cerebri in a child receiving peritoneal dialysis: recovery of vision after lumbo-pleural shunt
  Muhammad Talal Alrifai, Foad Al Naji, Abdulrahman Al-Amir, Neville Russell> ;Annals of Saudi Medicine. 2011 Sep 1
• 8 citations
  An inborn error of metabolism presenting as hypoxic-ischemic insult
  Wafaa Eyaid, Doha M. Al-Nouri, Mohamed S. Rashed, Muhammad Talal Alrifai, Anwar S. Al-Wakeel> ;Pediatric Neurology. 2005 Feb 1
• 104 citations
  Nontraumatic brain hemorrhage in children: etiology and presentation.
  Ahmed Al-Jarallah, Muhammad Talal Alrifai, Anthony R. Riela, E. Steve Roach> ;Journal of Child Neurology. 2000 May 1
• Join now to see all