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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J; SYNAPS Study Group; Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H. Efthymiou S, et al. Among authors: el khorassani m. Brain. 2019 Oct 1;142(10):2948-2964. doi: 10.1093/brain/awz248. Brain. 2019. PMID: 31501903 Free PMC article.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group; Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Salpietro V, et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929742 Free PMC article.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration.
Efthymiou S, Kriouile Y, Salpietro V, Hajar R, Ghizlane Z, Mankad K, El Khorassani M, Aguennouz M; SYNaPS Study Group; Houlden H, Wiethoff S. Efthymiou S, et al. Among authors: el khorassani m. J Neurol Sci. 2020 Mar 15;410:116639. doi: 10.1016/j.jns.2019.116639. Epub 2019 Dec 19. J Neurol Sci. 2020. PMID: 31884352 No abstract available.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Von Willebrand's disease: case report and review of literature.
Echahdi H, El Hasbaoui B, El Khorassani M, Agadr A, Khattab M. Echahdi H, et al. Among authors: el khorassani m, el hasbaoui b. Pan Afr Med J. 2017 Jun 29;27:147. doi: 10.11604/pamj.2017.27.147.12248. eCollection 2017. Pan Afr Med J. 2017. PMID: 28904675 Free PMC article. Review.
Pediatric rhabdomyosarcoma in Morocco.
Hessissen L, Kanouni L, Kili A, Nachef MN, El Khorassani M, Benjaafar N, Khattab M, El Gueddari Bel K. Hessissen L, et al. Among authors: el khorassani m, el gueddari bel k. Pediatr Blood Cancer. 2010 Jan;54(1):25-8. doi: 10.1002/pbc.22173. Pediatr Blood Cancer. 2010. PMID: 19746454
[A hemophagocytic syndrome revealing a Griscelli syndrome type 2].
Jennane S, El Kababri M, Hessissen L, Kili A, Nachef MN, Messaoudi N, Doghmi K, Mikdame M, El Khorassani M, Khattab M. Jennane S, et al. Among authors: el khorassani m, el kababri m. Ann Biol Clin (Paris). 2013 Jul-Aug;71(4):461-4. doi: 10.1684/abc.2013.0860. Ann Biol Clin (Paris). 2013. PMID: 23906575 Free article. French.
Cytogenetic Profile of Moroccan Pediatric Acute Lymphoblastic Leukemia: Analysis of 155 Cases With a Review of the Literature.
Chebihi ZT, Belkhayat A, Chadli E, Hilal L, Skhoun H, Hessissen L, El Khorassani M, El Kababri M, Kili A, Khattab M, Bakri Y, Dakka N. Chebihi ZT, et al. Among authors: el khorassani m, el kababri m. Clin Lymphoma Myeloma Leuk. 2018 Jun;18(6):e241-e248. doi: 10.1016/j.clml.2018.04.004. Epub 2018 Apr 25. Clin Lymphoma Myeloma Leuk. 2018. PMID: 29748040 Review.
29 results