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
3612014
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
2332012
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
1742017
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, 11601, 2016
1162016
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
742015
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
532016
PRRT2 mutations: exploring the phenotypical boundaries
T Djmi, S Weckhuysen, P Holmgren, K Hardies, T Van Dyck, ...
J Neurol Neurosurg Psychiatry 85 (4), 462-465, 2014
282014
-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
262012
-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
262012
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
232014
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
192016
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group
F Al Jasmi, M Al Jumah, F Alqarni, N Al-Sanna’a, F Al-Sharif, S Bohlega, ...
BMC neurology 15 (1), 205, 2015
182015
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
162016
Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency
SA Jones, D Bernstein, M Bialer, A Dhawan, C Hendriksz, CB Whitley, ...
Molecular Genetics and Metabolism 2 (111), S57-S58, 2014
152014
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
142016
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
132018
Lysosomal storage disorders in Egyptian children
MA Elmonem, IG Mahmoud, DA Mehaney, SA Sharaf, SA Hassan, ...
The Indian Journal of Pediatrics 83 (8), 805-813, 2016
132016
Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis
MS Zaki, L Selim, L Mansour, IG Mahmoud, AG Fenstermaker, SB Gabriel, ...
Clinical genetics 88 (1), 95-97, 2015
92015
Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients
IG Mahmoud, M Mahmoud, M Refaat, M Girgis, N Waked, A El Badawy, ...
Pediatric neurology 50 (2), 140-148, 2014
92014
Blood spot versus plasma chitotriosidase: A systematic clinical comparison
MA Elmonem, DI Ramadan, MSM Issac, LA Selim, SM Elkateb
Clinical biochemistry 47 (1-2), 38-43, 2014
92014
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Articles 1–20