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laila selim
laila selim
Professor of Pediatric Neurology
Verified email at cu.edu.eg - Homepage
Title
Cited by
Cited by
Year
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
5592014
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
5122017
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
2942012
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
2742016
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
2152020
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
1052016
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
672020
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
622016
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
522016
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
522014
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
422019
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
422015
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
402020
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
402016
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
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
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
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
362016
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