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laila selim
laila selim
Professor of Pediatric Neurology
在 cu.edu.eg 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ...
science 343 (6170), 506-511, 2014
5602014
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ...
Brain 140 (5), 1316-1336, 2017
5182017
Exome sequencing can improve diagnosis and alter patient management
TJ Dixon-Salazar, JL Silhavy, N Udpa, J Schroth, S Bielas, AE Schaffer, ...
Science translational medicine 4 (138), 138ra78-138ra78, 2012
2982012
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
K Tuschl, E Meyer, LE Valdivia, N Zhao, C Dadswell, A Abdul-Sada, ...
Nature communications 7 (1), 11601, 2016
2842016
Characterisation of COVID-19 pandemic in paediatric age group: a systematic review and meta-analysis
NM Mustafa, LA Selim
Journal of Clinical Virology 128, 104395, 2020
2182020
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
N Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang, RO Rosti, E Dikoglu, ...
Nature genetics 47 (5), 528-534, 2015
1392015
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
SA Jones, V Valayannopoulos, E Schneider, S Eckert, M Banikazemi, ...
Genetics in Medicine 18 (5), 452-458, 2016
1072016
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
L Cif, D Demailly, JP Lin, KE Barwick, M Sa, L Abela, S Malhotra, ...
Brain 143 (11), 3242-3261, 2020
692020
Biallelic variants in KIF14 cause intellectual disability with microcephaly
P Makrythanasis, R Maroofian, A Stray-Pedersen, D Musaev, MS Zaki, ...
European journal of human genetics 26 (3), 330-339, 2018
672018
Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: the first newborn screening pilot study
FA Hassan, F El-Mougy, SA Sharaf, I Mandour, MF Morgan, LA Selim, ...
Journal of medical screening 23 (3), 124-129, 2016
632016
Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: a 5 year report
LA Selim, SAH Hassan, F Salem, A Orabi, FA Hassan, F El-Mougy, ...
Clinical biochemistry 47 (9), 823-828, 2014
542014
Molybdenum cofactor and isolated sulphite oxidase deficiencies: clinical and molecular spectrum among Egyptian patients
MS Zaki, L Selim, HT El-Bassyouni, MY Issa, I Mahmoud, S Ismail, ...
european journal of paediatric neurology 20 (5), 714-722, 2016
532016
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group
MENA Pompe Working Group, F Al Jasmi, M Al Jumah, F Alqarni, ...
BMC neurology 15, 1-17, 2015
442015
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
S Elouej, K Harhouri, M Le Mao, G Baujat, S Nampoothiri, H Kayserili, ...
Nature communications 11 (1), 4589, 2020
432020
Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder
CM Dias, J Punetha, C Zheng, N Mazaheri, A Rad, S Efthymiou, ...
The American Journal of Human Genetics 105 (5), 1048-1056, 2019
432019
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive
MS Zaki, G Bhat, T Sultan, M Issa, HJ Jung, E Dikoglu, L Selim, ...
Annals of neurology 80 (1), 59-70, 2016
412016
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients
ABP Van Kuilenburg, D Dobritzsch, J Meijer, M Krumpel, LA Selim, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1822 (7 …, 2012
392012
Lysosomal storage disorders in Egyptian children
MA Elmonem, IG Mahmoud, DA Mehaney, SA Sharaf, SA Hassan, ...
The Indian Journal of Pediatrics 83, 805-813, 2016
382016
PRRT2 mutations: exploring the phenotypical boundaries
T Djémié, S Weckhuysen, P Holmgren, K Hardies, T Van Dyck, ...
Journal of Neurology, Neurosurgery & Psychiatry 85 (4), 462-465, 2014
372014
Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation
MS Zaki, MY Issa, HM Elbendary, H El‐Karaksy, H Hosny, C Ghobrial, ...
Clinical genetics 93 (4), 905-912, 2018
312018
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