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ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B, Distelmaier F, Haack TB. Laugwitz L, et al. Among authors: maroofian r. Brain. 2024 Feb 22:awae058. doi: 10.1093/brain/awae058. Online ahead of print. Brain. 2024. PMID: 38386308
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. Zollo M, et al. Among authors: maroofian r. Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014. Brain. 2017. PMID: 28334956 Free PMC article.
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G. Charif M, et al. Among authors: maroofian r. JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065. JAMA Neurol. 2018. PMID: 29181510 Free PMC article.
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.
Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M. Muto V, et al. Among authors: maroofian r. Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29. Neurology. 2018. PMID: 29959261 Free PMC article.
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.
Helal M, Mazaheri N, Shalbafan B, Malamiri RA, Dilaver N, Buchert R, Mohammadiasl J, Golchin N, Sedaghat A, Mehrjardi MYV, Haack TB, Riess O, Chung WK, Galehdari H, Shariati G, Maroofian R. Helal M, et al. Among authors: maroofian r. Neurol Sci. 2018 Nov;39(11):1917-1925. doi: 10.1007/s10072-018-3526-8. Epub 2018 Aug 21. Neurol Sci. 2018. PMID: 30128655 Free article.
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP. Jones EG, et al. Among authors: maroofian r. Sci Rep. 2019 Jun 21;9(1):9038. doi: 10.1038/s41598-019-44987-6. Sci Rep. 2019. PMID: 31227780 Free PMC article.
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: maroofian r. Brain. 2019 Oct 1;142(10):2948-2964. doi: 10.1093/brain/awz248. Brain. 2019. PMID: 31501903 Free PMC article.
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
Dias CM, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Polla DL, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R. Dias CM, et al. Among authors: maroofian r. Am J Hum Genet. 2019 Nov 7;105(5):1048-1056. doi: 10.1016/j.ajhg.2019.09.025. Epub 2019 Oct 24. Am J Hum Genet. 2019. PMID: 31668703 Free PMC article.
213 results