Publications

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A
Elsea, S. H., A. Solyom, Kirt Martin, P. Harmatz, J. Christina, L. Mitchell, C. Grant, and L. Selim, "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.
application/pdf iconasah1_pathogenic_variants_associated_with_acid_ceramidase_deficiency.pdf
B
Akizu, N., V. Cantagrel, M. S. Zaki, L. Al-Gazali, X. Wang, S. L, and G. J, "Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction", Nature genetics, vol. 47, issue 3256, pp. 528-534, Submitted.
Makrythanasis, P., L. A. Selim9, I. G. Mahmoud9, A. Elbadwy9, 13 Stylianos E. Antonarakis1, and J. G. Gleeson7, "Biallelic variants in KIF14 cause intellectual disability with microcephal", European journal of human genetics, 2017.
C
IG, M., M. M, R. M, S. Laila, and A. A, "Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.", Pediatr Neurol, vol. 50, issue 2, pp. 140-8, 2014.
E
Dixon-Salazar TJ, Udpa N, S. B. S. A. E. O. J. S. J., S. JL, Z. MS, A. - S. GH, M. LA, S. L, A. - H. S, and G. J, "Exome sequencing can improve diagnosis and alter patient management.", Sci Transl Med, vol. 4 (138), issue 3003544., pp. 138-178, 2012.
G, N., F. AG, Z. MS, ٍS. L, and G. J, "Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.", Science, vol. 343, issue (6170), pp. 506-11, 2014.
K
Laura Cif, K. E. Barwick, J. - P. Lin, M. Sa, L. Abela, D. Demailly, S. Malhotra, Wui K Chong, D. Steel, and L. Selim, "KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation", brain, vol. 143, issue 11, pp. 3242-3261, 2020.
application/pdf iconkmt2b-related_disorders_expansion_of_the_phenotypic_spectrum.pdf
M
Selim, L. A., and H. Hassan, "Mitochondrial Diseases as Model of Neurodegeneration ", personalised Medicine : lessons from neurodegeneration to cancer: Springer international AG, 2017.
P
Djémié T1, W. S, H. P, S. L, and D. J. P, "PRRT2 mutations: exploring the phenotypical boundaries.", J Neurol Neurosurg Psychiatry, vol. 85, issue 4, pp. 462-5, 2014.
R
Ghosh, S. G., Lu Wang, M. W. Breuss, J. D. Green, V. Stanley, Xiaoxu Yang, and L. Selim, "Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly", Journal of medical genetics,2020; 57 (4), 274-28257, vol. 57, issue 4, pp. 274-282, 2020.
application/pdf iconrecurrent_homozygous_damaging_mutation_in_tmx2encoding_protein.pdf
Ghosh, S. G., M. Scala, C. Beetz, G. Helman, V. Stanley, L. Selim, and J. G. Gleeson, "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.
application/pdf icona_relatively_common_homozygous_trappc4_splicing_variant_is_associated_with_an_early-infantile_neurodegenerative_syndrome.pdf
ß
van AB, K., Dobritzsch D, Meijer J, K. M, S. LA, R. MS, A. B, Meinsma R, and L. B., "ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.", Biochim Biophys Acta, vol. 1822, issue 7, pp. 1096-108, 2012. b_ureidopropionase_manuscript_published-_kuilenburg.pdf