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Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms.
Kalani L, Kim BH, de Chavez AR, Roemer A, Mikhailov A, Merritt JK, Good KV, Chow RL, Delaney KR, Hendzel MJ, Zhou Z, Neul JL, Vincent JB, Ausió J. Kalani L, et al. Among authors: neul jl. Hum Mol Genet. 2024 Aug 14:ddae119. doi: 10.1093/hmg/ddae119. Online ahead of print. Hum Mol Genet. 2024. PMID: 39137370
Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.
Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Oosterholt S, Della Pasqua O, Glass L, Jones NE, Percy AK; Rett 002 Study Group. Glaze DG, et al. Among authors: neul jl. Neurology. 2019 Apr 16;92(16):e1912-e1925. doi: 10.1212/WNL.0000000000007316. Epub 2019 Mar 27. Neurology. 2019. PMID: 30918097 Free PMC article. Clinical Trial.
Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels.
Bajikar SS, Sztainberg Y, Trostle AJ, Tirumala HP, Wan YW, Harrop CL, Bengtsson JD, Carvalho CMB, Pehlivan D, Suter B, Neul JL, Liu Z, Jafar-Nejad P, Rigo F, Zoghbi HY. Bajikar SS, et al. Among authors: neul jl. Hum Mol Genet. 2024 Sep 15:ddae135. doi: 10.1093/hmg/ddae135. Online ahead of print. Hum Mol Genet. 2024. PMID: 39277796
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Nejad-Rashidi A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer MZ, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Maia ER, Mansoor S, Vivek J, Tawde S, Santhosh R Challa V, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, Ei-Awady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Jave… See abstract for full author list ➔ Cali E, et al. Among authors: neul jl. Genet Med. 2024 Sep 10:101251. doi: 10.1016/j.gim.2024.101251. Online ahead of print. Genet Med. 2024. PMID: 39275948 Free article.
Rett Syndrome: The Emerging Landscape of Treatment Strategies.
Percy AK, Ananth A, Neul JL. Percy AK, et al. Among authors: neul jl. CNS Drugs. 2024 Nov;38(11):851-867. doi: 10.1007/s40263-024-01106-y. Epub 2024 Sep 9. CNS Drugs. 2024. PMID: 39251501 Free PMC article. Review.
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.
Kaufmann WE, Percy AK, Neul JL, Downs J, Leonard H, Nues P, Sharma GD, Bartolotta TE, Townend GS, Curfs LMG, Mariotti O, Buda C, O'Leary HM, Oberman LM, Vogel-Farley V, Barnes KV, Missling CU. Kaufmann WE, et al. Among authors: neul jl. Orphanet J Rare Dis. 2024 Aug 13;19(1):296. doi: 10.1186/s13023-024-03313-8. Orphanet J Rare Dis. 2024. PMID: 39138481 Free PMC article.
122 results