Mercimek-Mahmutoglu S - Search Results

1

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Minassian BA, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC 3rd. Mercimek-Mahmutoglu S, et al. Epilepsia. 2015 May;56(5):707-16. doi: 10.1111/epi.12954. Epub 2015 Mar 25. Epilepsia. 2015. PMID: 25818041 Free article.

2

Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.

Patel J, Mercimek-Mahmutoglu S. Patel J, et al. Indian J Pediatr. 2016 Oct;83(10):1164-74. doi: 10.1007/s12098-015-1979-9. Epub 2016 Jan 29. Indian J Pediatr. 2016. PMID: 26821542 Review.

3

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S. Roscher A, et al. Mol Genet Metab. 2014 Nov;113(3):171-6. doi: 10.1016/j.ymgme.2014.09.005. Epub 2014 Sep 21. Mol Genet Metab. 2014. PMID: 25266922

4

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner EJ, Logan W, Mendoza-Londono R, Moharir M, Raiman J, Schulze A, Siriwardena K, Yoon G, Kyriakopoulou L. Mercimek-Mahmutoglu S, et al. Orphanet J Rare Dis. 2015 Feb 8;10:12. doi: 10.1186/s13023-015-0234-9. Orphanet J Rare Dis. 2015. PMID: 25758715 Free PMC article.

5

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

Al Teneiji A, Bruun TU, Sidky S, Cordeiro D, Cohn RD, Mendoza-Londono R, Moharir M, Raiman J, Siriwardena K, Kyriakopoulou L, Mercimek-Mahmutoglu S. Al Teneiji A, et al. Among authors: mercimek mahmutoglu s. Mol Genet Metab. 2017 Mar;120(3):235-242. doi: 10.1016/j.ymgme.2016.12.014. Epub 2017 Jan 3. Mol Genet Metab. 2017. PMID: 28122681

6

Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

Hewson S, Puka K, Mercimek-Mahmutoglu S. Hewson S, et al. Among authors: mercimek mahmutoglu s. Am J Med Genet A. 2017 Aug;173(8):2226-2230. doi: 10.1002/ajmg.a.38281. Epub 2017 Jun 11. Am J Med Genet A. 2017. PMID: 28602030

7

Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome.

Nasr E, Mamak E, Feigenbaum A, Donner EJ, Mercimek-Mahmutoglu S. Nasr E, et al. J Child Neurol. 2015 Apr;30(5):648-53. doi: 10.1177/0883073814531331. Epub 2014 May 1. J Child Neurol. 2015. PMID: 24789515

8

Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.

Tran C, Hewson S, Steinberg SJ, Mercimek-Mahmutoglu S. Tran C, et al. Pediatr Neurol. 2014 Aug;51(2):262-5. doi: 10.1016/j.pediatrneurol.2014.03.020. Epub 2014 Mar 28. Pediatr Neurol. 2014. PMID: 25079577

9

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.

Desroches CL, Patel J, Wang P, Minassian B, Marshall CR, Salomons GS, Mercimek-Mahmutoglu S. Desroches CL, et al. Mol Genet Genomics. 2015 Dec;290(6):2163-71. doi: 10.1007/s00438-015-1067-x. Epub 2015 May 24. Mol Genet Genomics. 2015. PMID: 26003046

10

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.

Al Teneiji A, Bruun TU, Cordeiro D, Patel J, Inbar-Feigenberg M, Weiss S, Struys E, Mercimek-Mahmutoglu S. Al Teneiji A, et al. Among authors: mercimek mahmutoglu s. Metab Brain Dis. 2017 Apr;32(2):443-451. doi: 10.1007/s11011-016-9933-8. Epub 2016 Nov 23. Metab Brain Dis. 2017. PMID: 27882480

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