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Page 1
Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD.
Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C; Tourette International Collaborative Genetics (TIC Genetics); Bal VH, Langley K, Martin J, Hoekstra PJ, Dietrich A, Xing J, Heiman GA, Tischfield JA, Fernandez TV, Owen MJ, O'Donovan MC, Thapar A, State MW, Willsey AJ. Wang S, et al. Nat Commun. 2023 Dec 6;14(1):8077. doi: 10.1038/s41467-023-43776-0. Nat Commun. 2023. PMID: 38057346 Free PMC article.
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Henzi BC, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, Putananickal N, Stimpson G; North Star Consortium; Amthor H, Childs AM, Deconinck N, de Groot I, Horrocks I, Houwen-van Opstal S, Laugel V, Lopez Lobato M, Madruga Garrido M, Nascimento Osorio A, Schara-Schmidt U, Spinty S, von Moers A, Lawrence F, Hafner P, Dorchies OM, Fischer D. Henzi BC, et al. Among authors: madruga garrido m. Lancet Neurol. 2023 Oct;22(10):890-899. doi: 10.1016/S1474-4422(23)00285-5. Lancet Neurol. 2023. PMID: 37739572 Clinical Trial.
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.
Jain P, Miller-Fleming T, Topaloudi A, Yu D, Drineas P, Georgitsi M, Yang Z, Rizzo R, Müller-Vahl KR, Tumer Z, Mol Debes N, Hartmann A, Depienne C, Worbe Y, Mir P, Cath DC, Boomsma DI, Roessner V, Wolanczyk T, Janik P, Szejko N, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Buxbaum JD, Grice D, Glennon J, Stefansson H, Hengerer B, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Morer A, Mueller N, Munchau A, Plessen KJ, Porcelli C, Walitza S, Schrag A, Martino D; Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS); EMTICS collaborative group; Dietrich A; TS-EUROTRAIN Network; Mathews CA, Scharf JM, Hoekstra PJ, Davis LK, Paschou P. Jain P, et al. Transl Psychiatry. 2023 Feb 23;13(1):69. doi: 10.1038/s41398-023-02341-5. Transl Psychiatry. 2023. PMID: 36823209 Free PMC article.
Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.
Tsetsos F, Topaloudi A, Jain P, Yang Z, Yu D, Kolovos P, Tumer Z, Rizzo R, Hartmann A, Depienne C, Worbe Y, Müller-Vahl KR, Cath DC, Boomsma DI, Wolanczyk T, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Padmanabhuni SS, Buxbaum JD, Grice D, Glennon J, Stefansson H, Hengerer B, Yannaki E, Stamatoyannopoulos JA, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Mir P, Morer A, Mueller N, Munchau A, Plessen KJ, Porcelli C, Roessner V, Walitza S, Schrag A, Martino D; PGC TS Working Group; TSAICG; TSGeneSEE Initiative; EMTICS Collaborative Group; TS-EUROTRAIN Network; TIC Genetics Collaborative Group; Tischfield JA, Heiman GA, Willsey AJ, Dietrich A, Davis LK, Crowley JJ, Mathews CA, Scharf JM, Georgitsi M, Hoekstra PJ, Paschou P. Tsetsos F, et al. Biol Psychiatry. 2023 Feb 2:S0006-3223(23)00051-3. doi: 10.1016/j.biopsych.2023.01.023. Online ahead of print. Biol Psychiatry. 2023. PMID: 36738982
Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study.
Vázquez-Costa JF, Branas-Pampillón M, Medina-Cantillo J, Povedano M, Pitarch-Castellano I, López-Lobato M, Fernández-Ramos JA, Lafuente-Hidalgo M, Rojas-García R, Caballero-Caballero JM, Málaga I, Eirís-Puñal J, De Lemus M, Cattinari MG, Cabello-Moruno R, Díaz-Abós P, Sánchez-Menéndez V, Rebollo P, Maurino J, Madruga-Garrido M. Vázquez-Costa JF, et al. Among authors: madruga garrido m. Neurol Ther. 2023 Feb;12(1):89-105. doi: 10.1007/s40120-022-00411-2. Epub 2022 Oct 21. Neurol Ther. 2023. PMID: 36269538 Free PMC article.
Treatment of spinal muscular atrophy in European countries: A call to action.
Vázquez-Costa JF, Martínez-Moreno M, Madruga-Garrido M, Munell F, Nascimento A, Pitarch-Castellano I, Pascual-Pascual SI, Povedano M, Cattinari MG. Vázquez-Costa JF, et al. Among authors: madruga garrido m. Eur J Neurol. 2022 Nov;29(11):3475-3477. doi: 10.1111/ene.15522. Epub 2022 Aug 22. Eur J Neurol. 2022. PMID: 35971869 No abstract available.
Tic disorders and premonitory urges: validation of the Spanish-language version of the Premonitory Urge for Tics Scale in children and adolescents.
Forcadell E, Garcia-Delgar B, Nicolau R, Pérez-Vigil A, Cordovilla C, Lázaro L, Ibáñez L, Mir P, Madruga-Garrido M, Correa-Vela M, Morer A. Forcadell E, et al. Among authors: madruga garrido m. Neurologia (Engl Ed). 2023 Jun;38(5):319-325. doi: 10.1016/j.nrleng.2020.09.005. Epub 2022 Jul 9. Neurologia (Engl Ed). 2023. PMID: 35820636 Free article.
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).
Pitarch Castellano I, Cabrera-Serrano M, Calvo Medina R, Cattinari MG, Espinosa García S, Fernández-Ramos JA, García Campos O, Gómez-Andrés D, Grimalt Calatayud MA, Gutiérrez Martínez AJ, Ibáñez Albert E, Kapetanovic García S, Madruga-Garrido M, Martínez-Moreno M, Medina Cantillo J, Melián Suárez AI, Moreno Escribano A, Munell F, Nascimento Osorio A, Pascual-Pascual SI, Povedano M, Santana Casiano IM, Vázquez-Costa JF. Pitarch Castellano I, et al. Among authors: madruga garrido m. Neurologia (Engl Ed). 2022 Apr;37(3):216-228. doi: 10.1016/j.nrleng.2021.07.002. Epub 2022 Feb 28. Neurologia (Engl Ed). 2022. PMID: 35241415 Free article.
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
Mercuri E, Deconinck N, Mazzone ES, Nascimento A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW; SUNFISH Study Group. Mercuri E, et al. Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Lancet Neurol. 2022. PMID: 34942136
64 results