Laila Abd Elmotelab
laila_selim's web site
(email)
Ghosh, S. G., M. Scala, C. Beetz, G. Helman, V. Stanley, L. Selim, and J. G. Gleeson,
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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
",
European Journal of Human Genetics
, vol. 29, pp. 271-279, 2021.
a_relatively_common_homozygous_trappc4_splicing_variant_is_associated_with_an_early-infantile_neurodegenerative_syndrome.pdf
Ghosh, S. G., Lu Wang, M. W. Breuss, J. D. Green, V. Stanley, Xiaoxu Yang, and L. Selim,
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Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly
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Journal of medical genetics,2020; 57 (4), 274-28257
, vol. 57, issue 4, pp. 274-282, 2020.
recurrent_homozygous_damaging_mutation_in_tmx2encoding_protein.pdf
Laura Cif, K. E. Barwick, J. - P. Lin, M. Sa, L. Abela, D. Demailly, S. Malhotra, Wui K Chong, D. Steel, and L. Selim,
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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
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brain
, vol. 143, issue 11, pp. 3242-3261, 2020.
kmt2b-related_disorders_expansion_of_the_phenotypic_spectrum.pdf
Elsea, S. H., A. Solyom, Kirt Martin, P. Harmatz, J. Christina, L. Mitchell, C. Grant, and L. Selim,
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ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy
",
Human mutation
, vol. 40, issue 9, pp. 1469-1487, 2020.
asah1_pathogenic_variants_associated_with_acid_ceramidase_deficiency.pdf
Makrythanasis, P., L. A. Selim9, I. G. Mahmoud9, A. Elbadwy9, 13 Stylianos E. Antonarakis1, and J. G. Gleeson7,
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Biallelic variants in KIF14 cause intellectual disability with microcephal
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European journal of human genetics
, 2017.
Selim, L. A., and H. Hassan,
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Mitochondrial Diseases as Model of Neurodegeneration
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personalised Medicine : lessons from neurodegeneration to cancer
: Springer international AG, 2017.
IG, M., M. M, R. M, S. Laila, and A. A,
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Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.
",
Pediatr Neurol
, vol. 50, issue 2, pp. 140-8, 2014.
Djémié T1, W. S, H. P, S. L, and D. J. P,
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PRRT2 mutations: exploring the phenotypical boundaries.
",
J Neurol Neurosurg Psychiatry
, vol. 85, issue 4, pp. 462-5, 2014.
G, N., F. AG, Z. MS, ٍS. L, and G. J,
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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
",
Science
, vol. 343, issue (6170), pp. 506-11, 2014.
Akizu, N., V. Cantagrel, M. S. Zaki, L. Al-Gazali, X. Wang, S. L, and G. J,
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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
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Nature genetics
, vol. 47, issue 3256, pp. 528-534, Submitted.
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