Works by Bastaki, Laila

Results: 15

Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 787, doi. 10.3233/JND-221528
By:
- Elbashir, Haitham;
- Fathalla, Waseem;
- Mundada, Vivek;
- Iqbal, Mehtab;
- Al Tawari, Asmaa A;
- Chandratre, Saleel;
- Bastaki, Laila;
- Romany, Ingy;
- Ismayl, Omar;
- Abou Tayoun, Ahmad
Publication type:
Article
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
By:
- Alabdulrazzaq, Fatima;
- Alanzi, Talal;
- Al‐Balool, Haya H.;
- Gardham, Alice;
- Wakeling, Emma;
- Leitch, Harry G.;
- AlSayed, Moeenaldeen;
- Abdulrahim, Maha;
- Aladwani, Abdulaziz;
- Romito, Antonio;
- Kampe, Kapil;
- Ferdinandusse, Sacha;
- Aboelanine, Ashraf H.;
- Abdullah, Amira;
- Alwadani, Amal;
- Bastaki, Laila;
- Vaz, Frédéric M.;
- Bertoli‐Avella, Aida M.;
- Marafi, Dana
Publication type:
Article
Correction: AlTawari et al. Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait. Neurol. Int. 2024, 16 , 631–642.
Published in:
2025
By:
- AlTawari, Asma;
- Zakaria, Mohammad;
- Kamel, Walaa A.;
- Shaalan, Nayera;
- Elghazawi, Gamal Ahmed Ismail;
- Ali, Mohamed Esmat Anwar;
- Salota, Dalia;
- Attia, Amr;
- Elanany, Ehab Elsayed Ali;
- Shalaby, Osama;
- Alqallaf, Fatema;
- Mitic, Vesna;
- Bastaki, Laila
Publication type:
Correction Notice
Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait.
Published in:
2024
By:
- AlTawari, Asma;
- Zakaria, Mohammad;
- Kamel, Walaa;
- Shaalan, Nayera;
- Elghazawi, Gamal Ahmed Ismail;
- Ali, Mohamed Esmat Anwar;
- Salota, Dalia;
- Attia, Amr;
- Elanay, Ehab Elsayed Ali;
- Shalaby, Osama;
- Alqallaf, Fatema;
- Mitic, Vesna;
- Bastaki, Laila
Publication type:
Case Study
Quand tous les chemins mènent à l'Afrique...
Published in:
Médecine Sciences, 2019, v. 35, p. 15, doi. 10.1051/medsci/2019237
By:
- Urtizberea, J. Andoni;
- Alrohaif, Hadil;
- Gouda, Sayed A.;
- Bastaki, Laila
Publication type:
Article
Pallister-Killian syndrome with fibular hypoplasia: a novel clinical manifestation.
Published in:
Middle East Journal of Medical Genetics, 2016, v. 5, n. 2, p. 41, doi. 10.1097/01.MXE.0000484370.71282.15
By:
- Sadik, Doaa I.;
- Al-Hathal, Muneef;
- Ghareeb, Tarek M.;
- Abulhasan, Sawsan J.;
- Bastaki, Laila A.
Publication type:
Article
A case report of FATCO syndrome: fibular aplasia, tibial campomelia, and oligosyndactyly.
Published in:
Middle East Journal of Medical Genetics, 2015, v. 4, n. 1, p. 28, doi. 10.1097/01.MXE.0000456627.22542.40
By:
- Bastaki, Laila A.;
- Al-Hathal, Muneef;
- Sadik, Doaa I.;
- Alrohaif, Hadil E.;
- Yousef, Hala Y.;
- Khallaf, Mohamed G.
Publication type:
Article
Woodhouse-Sakati syndrome in six Kuwaiti families.
Published in:
Middle East Journal of Medical Genetics, 2013, v. 2, n. 2, p. 39, doi. 10.1097/01.MXE.0000430774.84009.80
By:
- Bastaki, Laila;
- Al-Wadaani, Amal;
- Gouda, Sayed;
- Al-Aboud, Hayat;
- Elshafey, Alaa
Publication type:
Article
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02888-y
By:
- Aburezq, Maryam;
- Alahmad, Ahmad;
- Alsafi, Rasha;
- Al-Tawari, Asma;
- Ramadan, Dina;
- Shafik, Magdy;
- Abdelaty, Omar;
- Makhseed, Nawal;
- Elshafie, Reem;
- Ayed, Mariam;
- Hayat, Abrar;
- Dashti, Fatima;
- Marafi, Dana;
- Albash, Buthaina;
- Bastaki, Laila;
- Alsharhan, Hind
Publication type:
Article
GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.
Published in:
2018
By:
- Alrohaif, Hadil;
- Pogoryelova, Oksana;
- Al‐Ajmi, Abdullah;
- Aljeryan, Lulwa A.;
- Alrashidi, Nuwayer H.;
- Alefasi, Sara A.;
- Urtizberea, Andoni;
- Lochmüller, Hanns;
- Bastaki, Laila;
- Al-Ajmi, Abdullah
Publication type:
journal article
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3528, doi. 10.1093/brain/awad033
By:
- Smits, Daphne J;
- Schot, Rachel;
- Krusy, Nathalie;
- Wiegmann, Katja;
- Utermöhlen, Olaf;
- Mulder, Monique T;
- Hoedt, Sandra den;
- Yoon, Grace;
- Deshwar, Ashish R;
- Kresge, Christina;
- Pletcher, Beth;
- Mook, Maura van;
- Ferreira, Marta Serio;
- Poot, Raymond A;
- Slotman, Johan A;
- Kremers, Gert-Jan;
- Ahmad, Abeer;
- Albash, Buthaina;
- Bastaki, Laila;
- Marafi, Dana
Publication type:
Article
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Published in:
Nature Genetics, 2015, v. 47, n. 5, p. 528, doi. 10.1038/ng.3256
By:
- Akizu, Naiara;
- Ozgul, R Koksal;
- Sagıroglu, Mahmut Samil;
- Azam, Matloob;
- Selim, Laila;
- Mahmoud, Iman G;
- Abdel-Hadi, Sawsan;
- Badawy, Amera El;
- Sadek, Abdelrahim A;
- Mojahedi, Faezeh;
- Kayserili, Hulya;
- Masri, Amira;
- Bastaki, Laila;
- Müller, Ulrich;
- Cantagrel, Vincent;
- Desguerre, Isabelle;
- Casanova, Jean-Laurent;
- Dursun, Ali;
- Gunel, Murat;
- Gabriel, Stacey B
Publication type:
Article
Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.
Published in:
PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197205
By:
- Mohammed, Fawziah;
- Elshafey, Alaa;
- Al-balool, Haya;
- Alaboud, Hayat;
- Al Ben Ali, Mohammed;
- Baqer, Adel;
- Bastaki, Laila
Publication type:
Article
Novel STAMBP mutation and additional findings in an Arabic family.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 805, doi. 10.1002/ajmg.a.36782
By:
- Faqeih, Eissa A.;
- Bastaki, Laila;
- Rosti, Rasim Ozgur;
- Spencer, Emily G.;
- Zada, AbdulAli P.;
- Saleh, Mohammad A. M.;
- Um, Kyongmi;
- Gleeson, Joseph G.
Publication type:
Article
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
Published in:
2013
By:
- Harlalka, Gaurav V;
- Lehman, Anna;
- Chioza, Barry;
- Baple, Emma L;
- Maroofian, Reza;
- Cross, Harold;
- Sreekantan-Nair, Ajith;
- Priestman, David A;
- Al-Turki, Saeed;
- McEntagart, Meriel E;
- Proukakis, Christos;
- Royle, Louise;
- Kozak, Radoslaw P;
- Bastaki, Laila;
- Patton, Michael;
- Wagner, Karin;
- Coblentz, Roselyn;
- Price, Joy;
- Mezei, Michelle;
- Schlade-Bartusiak, Kamilla
Publication type:
journal article