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EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. Kuipers DJS, et al. Among authors: carecchio m. Ann Neurol. 2021 Mar;89(3):485-497. doi: 10.1002/ana.25973. Epub 2020 Dec 15. Ann Neurol. 2021. PMID: 33236446 Free PMC article.
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW. Mencacci NE, et al. Among authors: carecchio m. Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983243 Free PMC article.
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.
Mencacci NE, R'bibo L, Bandres-Ciga S, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Batla A, Bhatia KP, Pittman AM, Hardy J, Weissbach A, Klein C, Gasser T, Lohmann E, Wood NW. Mencacci NE, et al. Among authors: carecchio m. Hum Mol Genet. 2015 Sep 15;24(18):5326-9. doi: 10.1093/hmg/ddv255. Epub 2015 Jul 8. Hum Mol Genet. 2015. PMID: 26157024 Free PMC article.
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP. Mencacci NE, et al. Among authors: carecchio m. Am J Hum Genet. 2016 Apr 7;98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015. Am J Hum Genet. 2016. PMID: 27058447 Free PMC article.
Recent advances in genetics of chorea.
Mencacci NE, Carecchio M. Mencacci NE, et al. Among authors: carecchio m. Curr Opin Neurol. 2016 Aug;29(4):486-95. doi: 10.1097/WCO.0000000000000352. Curr Opin Neurol. 2016. PMID: 27257945 Free PMC article. Review.
DYT2 screening in early-onset isolated dystonia.
Carecchio M, Reale C, Invernizzi F, Monti V, Petrucci S, Ginevrino M, Morgante F, Zorzi G, Zibordi F, Bentivoglio AR, Valente EM, Nardocci N, Garavaglia B. Carecchio M, et al. Eur J Paediatr Neurol. 2017 Mar;21(2):269-271. doi: 10.1016/j.ejpn.2016.10.001. Epub 2016 Oct 13. Eur J Paediatr Neurol. 2017. PMID: 27771228
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.
Carecchio M, Mencacci NE, Iodice A, Pons R, Panteghini C, Zorzi G, Zibordi F, Bonakis A, Dinopoulos A, Jankovic J, Stefanis L, Bhatia KP, Monti V, R'Bibo L, Veneziano L, Garavaglia B, Fusco C, Wood N, Stamelou M, Nardocci N. Carecchio M, et al. Parkinsonism Relat Disord. 2017 Aug;41:37-43. doi: 10.1016/j.parkreldis.2017.05.004. Epub 2017 May 10. Parkinsonism Relat Disord. 2017. PMID: 28511835 Free PMC article.
95 results