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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 2
2013 3
2014 7
2015 4
2016 8
2017 2
2018 3
2019 5
2020 8
2021 3
2022 5
2023 3
2024 3

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47 results

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Page 1
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Novarino G, et al. Among authors: selim l. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363. Science. 2014. PMID: 24482476 Free PMC article.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: selim l. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D… See abstract for full author list ➔ Cif L, et al. Among authors: selim l. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.
Mahmoud IG, Elmonem MA, Elkhateeb NM, Elnaggar W, Sobhi A, Girgis MY, Kamel M, Shaheen Y, Samaha M, Ramadan A, Zaki MS, El-Hawary B, Hassan SA, Khalifa IA, Mossad F, Al-Menabawy NM, Zielke S, Gleeson JG, Rolfs A, Selim LA. Mahmoud IG, et al. Among authors: selim la. Clin Genet. 2019 Apr;95(4):537-539. doi: 10.1111/cge.13492. Epub 2019 Jan 11. Clin Genet. 2019. PMID: 30633340 Review. No abstract available.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
van der Knoop MM, Maroofian R, Fukata Y, van Ierland Y, Karimiani EG, Lehesjoki AE, Muona M, Paetau A, Miyazaki Y, Hirano Y, Selim L, de França M, Fock RA, Beetz C, Ruivenkamp CAL, Eaton AJ, Morneau-Jacob FD, Sagi-Dain L, Shemer-Meiri L, Peleg A, Haddad-Halloun J, Kamphuis DJ, Peeters-Scholte CMPCD, Kurul SH, Horvath R, Lochmüller H, Murphy D, Waldmüller S, Spranger S, Overberg D, Muir AM, Rad A, Vona B, Abdulwahad F, Maddirevula S, Povolotskaya IS, Voinova VY, Gowda VK, Srinivasan VM, Alkuraya FS, Mefford HC, Alfadhel M, Haack TB, Striano P, Severino M, Fukata M, Hilhorst-Hofstee Y, Houlden H. van der Knoop MM, et al. Among authors: selim l. Brain. 2022 Jul 29;145(7):2301-2312. doi: 10.1093/brain/awac116. Brain. 2022. PMID: 35373813 Free PMC article.
Lysosomal Storage Disorders in Egyptian Children.
Elmonem MA, Mahmoud IG, Mehaney DA, Sharaf SA, Hassan SA, Orabi A, Salem F, Girgis MY, El-Badawy A, Abdelwahab M, Salah Z, Soliman NA, Hassan FA, Selim LA. Elmonem MA, et al. Among authors: selim la. Indian J Pediatr. 2016 Aug;83(8):805-13. doi: 10.1007/s12098-015-2014-x. Epub 2016 Feb 2. Indian J Pediatr. 2016. PMID: 26830282
Organic acidurias in Egyptian children: The urge for high-risk screening.
Mehaney DA, Seliem ZS, Selim LA, Khalil MS, Abou-Youssef HS, Elsayed EM, Abdou DM, Rizzo C, Dioniasi-Vici C, Abdelazim AM, Elkady SH. Mehaney DA, et al. Among authors: selim la. Pediatr Int. 2023 Jan;65(1):e15469. doi: 10.1111/ped.15469. Pediatr Int. 2023. PMID: 36609685
PRRT2 mutations: exploring the phenotypical boundaries.
Djémié T, Weckhuysen S, Holmgren P, Hardies K, Van Dyck T, Hendrickx R, Schoonjans AS, Van Paesschen W, Jansen AC, De Meirleir L, Selim LA, Girgis MY, Buyse G, Lagae L, Smets K, Smouts I, Claeys KG, Van den Bergh V, Grisar T, Blatt I, Shorer Z, Roelens F, Afawi Z, Helbig I, Ceulemans B, De Jonghe P, Suls A. Djémié T, et al. Among authors: selim la. J Neurol Neurosurg Psychiatry. 2014 Apr;85(4):462-5. doi: 10.1136/jnnp-2013-305122. Epub 2013 Oct 7. J Neurol Neurosurg Psychiatry. 2014. PMID: 24101679
47 results