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107 results

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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.
Movement disorders in adult patients with classical galactosemia.
Rubio-Agusti I, Carecchio M, Bhatia KP, Kojovic M, Parees I, Chandrashekar HS, Footitt EJ, Burke D, Edwards MJ, Lachmann RH, Murphy E. Rubio-Agusti I, et al. Among authors: carecchio m. Mov Disord. 2013 Jun;28(6):804-10. doi: 10.1002/mds.25348. Epub 2013 Feb 11. Mov Disord. 2013. PMID: 23400815
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP. Kojovic M, et al. Among authors: carecchio m. Mov Disord. 2013 Jun;28(6):795-803. doi: 10.1002/mds.25394. Epub 2013 Feb 15. Mov Disord. 2013. PMID: 23418071
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.
Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay.
Heywood WE, Galimberti D, Bliss E, Sirka E, Paterson RW, Magdalinou NK, Carecchio M, Reid E, Heslegrave A, Fenoglio C, Scarpini E, Schott JM, Fox NC, Hardy J, Bhatia K, Heales S, Sebire NJ, Zetterberg H, Mills K. Heywood WE, et al. Among authors: carecchio m. Mol Neurodegener. 2015 Dec 1;10:64. doi: 10.1186/s13024-015-0059-y. Mol Neurodegener. 2015. PMID: 26627638 Free PMC article.
107 results