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Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS. Moawia A, et al. Among authors: kawalia a. Ann Neurol. 2017 Oct;82(4):562-577. doi: 10.1002/ana.25044. Epub 2017 Oct 14. Ann Neurol. 2017. PMID: 28892560
DEPDC5 mutations in genetic focal epilepsies of childhood.
Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Bäumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Altmüller J, Thiele H, Lemke JR, Lerche H, Nürnberg P, Sander T, Weber Y, Zimprich F, Neubauer BA. Lal D, et al. Among authors: kawalia a. Ann Neurol. 2014 May;75(5):788-92. doi: 10.1002/ana.24127. Epub 2014 Apr 14. Ann Neurol. 2014. PMID: 24591017
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR; EuroEPINOMICS Consortium; Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F. Reinthaler EM, et al. Among authors: kawalia a. Ann Neurol. 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28. Ann Neurol. 2015. PMID: 25726841
Rare gene deletions in genetic generalized and Rolandic epilepsies.
Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmüller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA; EuroEPINOMICS CoGIE Consortium; Zara F, Lehesjoki AE, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, Nürnberg P. Jabbari K, et al. Among authors: kawalia a. PLoS One. 2018 Aug 27;13(8):e0202022. doi: 10.1371/journal.pone.0202022. eCollection 2018. PLoS One. 2018. PMID: 30148849 Free PMC article.
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Dafsari HS, Kawalia A, Sprute R, Karakaya M, Malenica A, Herkenrath P, Nürnberg P, Motameny S, Thiele H, Cirak S. Dafsari HS, et al. Among authors: kawalia a. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004465. doi: 10.1101/mcs.a004465. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31604777 Free PMC article.
The genomic and clinical landscape of fetal akinesia.
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. Pergande M, et al. Among authors: kawalia a. Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4. Genet Med. 2020. PMID: 31680123 Free article.
25 results