Tabarki BM - Search Results

1

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM Jr, van Karnebeek C; International PDE Consortium. Coughlin CR, et al. Among authors: tabarki bm. Neurology. 2022 Dec 5;99(23):e2627-e2636. doi: 10.1212/WNL.0000000000201222. Neurology. 2022. PMID: 36008148 Free PMC article.

2

Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.

Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G. Tabarki B, et al. Neurology. 2013 Jan 15;80(3):261-7. doi: 10.1212/WNL.0b013e31827deb4c. Epub 2012 Dec 26. Neurology. 2013. PMID: 23269594

3

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.

Patrono C, Di Giacinto G, Eymard-Pierre E, Santorelli FM, Rodriguez D, De Stefano N, Federico A, Gatti R, Benigno V, Megarbané A, Tabarki B, Boespflug-Tanguy O, Bertini E. Patrono C, et al. Neurology. 2003 Aug 26;61(4):534-7. doi: 10.1212/01.wnl.0000076184.21183.ca. Neurology. 2003. PMID: 12939431

4

Further magnetic resonance imaging (MRI) brain delineation of 49,XXXXY syndrome.

Tabarki B, Shafi SA, Adwani NA, Shahwan SA. Tabarki B, et al. J Child Neurol. 2012 May;27(5):650-3. doi: 10.1177/0883073811424797. Epub 2011 Dec 7. J Child Neurol. 2012. PMID: 22156792

5

A wide clinical phenotype spectrum in patients with ATP1A2 mutations.

Al-Bulushi B, Al-Hashem A, Tabarki B. Al-Bulushi B, et al. J Child Neurol. 2014 Feb;29(2):265-8. doi: 10.1177/0883073813504623. Epub 2013 Oct 4. J Child Neurol. 2014. PMID: 24097848

6

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

Tabarki B, Alfadhel M, AlShahwan S, Hundallah K, AlShafi S, AlHashem A. Tabarki B, et al. Eur J Paediatr Neurol. 2015 Sep;19(5):547-52. doi: 10.1016/j.ejpn.2015.05.008. Epub 2015 Jun 12. Eur J Paediatr Neurol. 2015. PMID: 26095097 Clinical Trial.

7

Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.

Hundallah K, Alenizi A, AlHashem A, Tabarki B. Hundallah K, et al. Eur J Paediatr Neurol. 2016 Jul;20(4):657-60. doi: 10.1016/j.ejpn.2016.03.011. Epub 2016 Apr 14. Eur J Paediatr Neurol. 2016. PMID: 27117551

8

Sepiapterin reductase deficiency: Report of 5 new cases.

AlSubhi S, AlShahwan S, AlMuhaizae M, AlZaidan H, Tabarki B. AlSubhi S, et al. Eur J Paediatr Neurol. 2017 May;21(3):583-586. doi: 10.1016/j.ejpn.2017.01.010. Epub 2017 Jan 29. Eur J Paediatr Neurol. 2017. PMID: 28189489

9

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

Eskandrani A, AlHashem A, Ali ES, AlShahwan S, Tlili K, Hundallah K, Tabarki B. Eskandrani A, et al. Pediatr Neurol. 2017 Jun;71:24-28. doi: 10.1016/j.pediatrneurol.2017.03.019. Epub 2017 Apr 5. Pediatr Neurol. 2017. PMID: 28449981

10

Embryopathy Associated With a Vitamin Therapy.

Tabarki B, AlHashem A, Tlili-Graiess K. Tabarki B, et al. Pediatr Neurol. 2018 Dec;89:73-74. doi: 10.1016/j.pediatrneurol.2018.07.012. Epub 2018 Aug 4. Pediatr Neurol. 2018. PMID: 30442439 No abstract available.

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