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Page 1
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis.
Wong KM, Maroofian R, Meier K, Diegmann S, Tkemaladze T, Alvi JR, Tasharrofi B, Efthymiou S, Munchau A, Korenke GC, Almontashiri N, Eyaid W, Kashgari A, Alotaibi M, Gärtner J, Huppke B, Asadollahi M, Chikvinidze G, Keramatipour M, Sultan T, Thiele H, Nürnberg P, Gräler MH, Houlden H, Huppke P. Wong KM, et al. Among authors: maroofian r. Mov Disord. 2025 Jul 1. doi: 10.1002/mds.30258. Online ahead of print. Mov Disord. 2025. PMID: 40590574
ELFN1 Deficiency: the mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Dore R, Chang CT, Declève A, Brunori G, Ludlam WG, Huang A, Movahedinia M, Damseh NS, Anwar I, Vahidi Mehrjardi MY, Ny A, Khorrami M, Kheirollahi M, Frederiksen H, Eghbal F, Mirjalili MR, Dehghani M, Karimiani EG, Oreshkov S, Alves C, Striano P, Suri M, Martinez-Agosto J, Ansar M, Zahid M, Akram S, Ansar M, Nelson SF; Undiagnosed Diseases Network; Antonarakis SE, Houlden H, Copmans D, Martemyanov KA, Maroofian R. Dore R, et al. Among authors: maroofian r. Genet Med. 2025 Jun 23:101506. doi: 10.1016/j.gim.2025.101506. Online ahead of print. Genet Med. 2025. PMID: 40576023 Free article.
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Jacob M, Kölbel H, Harrer P, Kopajtich R, Munot P, Achleitner MT, Badmann S, Brugger M, Brunet T, Bonne G, Codina M, Ebner L, Eshraghi P, Eyring K, Farhat AS, Feichtinger RG, Graf E, Marcé-Grau A, Hahn A, Houlden H, Karimiani EG, Manel V, Mayerhanser K, Nectoux J, Nelson I, Phadke R, Prokisch H, Sadeghian S, Saparov A, Schänzer A, Schara-Schmidt U, Schmidt J, Schuler R, Sewry C, Shariati G, Slanz S, Smirnov D, Sukenik-Halevy R, Tajsharghi H, Toosi MB, Trujillano L, Weis J, Wilson LC, Ben Yaou R, Zamani M, Zech M, Zschüntzsch J, Kornak U, Goméz-Andrés D, Maroofian R, Winkelmann J, Roos A, Distelmaier F, Mayr JA, Wagner M. Jacob M, et al. Among authors: maroofian r. Brain. 2025 Jun 11:awaf227. doi: 10.1093/brain/awaf227. Online ahead of print. Brain. 2025. PMID: 40497796
Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.
Poleg T, Hadar N, Kristal E, Roberts NY, Dolgin V, Aminov I, Safran A, Agam N, Jean M, Freund O, Sheridan EG, Poulter JA, Thompson ML, Algoos Y, Al-Qahtani S, AlAbdi L, Maddirevula S, Hartill V, Houlden H, Maroofian R, Nahum A, Birk OS. Poleg T, et al. Among authors: maroofian r. Mov Disord. 2025 Jun 10. doi: 10.1002/mds.30249. Online ahead of print. Mov Disord. 2025. PMID: 40492975 Free article.
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Jamra RA, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: maroofian r. Ann Neurol. 2025 Jun 5:10.1002/ana.27277. doi: 10.1002/ana.27277. Online ahead of print. Ann Neurol. 2025. PMID: 40468825
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.
Hirano Y, Miyazaki Y, Ishikawa D, Inahashi H, Al-Hassnan ZN, Zifarelli G, Bauer P, Alvi JR, Sultan T, Thompson ML, Sezer A, Konuşkan B, Hajir RS, El-Hattab AW, Efthymiou S, Ishida A, Yokoi N, Kornau HC, Schmitz D, Prüss H, Houlden H, Ikegaya Y, Fukata Y, Fukata M, Maroofian R. Hirano Y, et al. Among authors: maroofian r. Brain. 2025 Jun 2:awaf202. doi: 10.1093/brain/awaf202. Online ahead of print. Brain. 2025. PMID: 40455867
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
Hildonen M, Ciolfi A, Ferilli M, Cappelletti C, Al Alam C, Amor DJ, Barakat TS, Benoit V, Birk OS, Callewaert B, Cazurro-Gutiérrez A, De Wachter M, Doco-Fenzy M, Gómez-Puertas P, Hammer TB, Jamra RA, Kaiyrzhanov R, Kameyama S, Keren B, Kresge C, Krey I, Lederer D, Marcos-Alcalde I, Maroofian R, Matsumoto N, Mizuguchi T, Moey LH, Morgan A, Munell F, Platzer K, Pletcher BA, Ros-Pardo D, Rumping L, Szakszon K, Van Schil K, Verdura E, Vogt J, Wassmer E, Zamani M, Tümer Z, Tartaglia M. Hildonen M, et al. Among authors: maroofian r. Eur J Hum Genet. 2025 Jul;33(7):896-903. doi: 10.1038/s41431-025-01876-z. Epub 2025 May 23. Eur J Hum Genet. 2025. PMID: 40410387
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.
Mencacci NE, Minakaki G, Maroofian R, De Pace R, Paimboeuf A, Shannon P, Chitayat D, Magrinelli F, Peng WJ, Chatterjee D, Eldessouky SH, Baptista J, Marton T, Vogt J, Ortigoza-Escobar JD, Martorell L, Gómez-Chiari M, Wentzensen IM, Kamsteeg EJ, Zaki MS, Scardamaglia A, Zifarelli G, Al-Hassnan ZN, Miller E, Shinar S, Matsa LS, Appikonda SHC, Schwake M, Severino M, Houlden H, Patten SA, Bonifacino JS, Bhatia KP, Krainc D. Mencacci NE, et al. Among authors: maroofian r. medRxiv [Preprint]. 2025 May 7:2025.04.30.25326597. doi: 10.1101/2025.04.30.25326597. medRxiv. 2025. PMID: 40385417 Free PMC article. Preprint.
Parp1 deletion rescues cerebellar hypotrophy in xrcc1 mutant zebrafish.
Semenova SA, Nammi D, Garrett GB, Margolin G, Sinclair JL, Maroofian R, Caldecott KW, Burgess HA. Semenova SA, et al. Among authors: maroofian r. Sci Rep. 2025 May 16;15(1):17043. doi: 10.1038/s41598-025-01870-x. Sci Rep. 2025. PMID: 40379758 Free PMC article.
263 results