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Did you mean m checchio[Author] (2 results)?
GPi-DBS for KMT2B-Associated Dystonia: Systematic Review and Meta-Analysis.
Rajan R, Garg K, Saini A, Radhakrishnan DM, Carecchio M, Bk B, Singh M, Srivastava AK. Rajan R, et al. Among authors: carecchio m. Mov Disord Clin Pract. 2021 Dec 4;9(1):31-37. doi: 10.1002/mdc3.13374. eCollection 2022 Jan. Mov Disord Clin Pract. 2021. PMID: 35005062 Free PMC article. Review.
The median follow-up was 12 months (range: 1-264 months). GPi-DBS resulted in median BFMDRS-M improvement of 42.7% (range: -103.5% to 95.9%) postoperatively. Pooled proportion of patients experiencing clinical improvement >50% on BFMDRS-M was 41% (95% CI: 27%-57% …
The median follow-up was 12 months (range: 1-264 months). GPi-DBS resulted in median BFMDRS-M improvement of 42.7% (range: -103.5% to …
Adult diagnosis of Cockayne syndrome.
Cocco A, Calandrella D, Carecchio M, Garavaglia B, Albanese A. Cocco A, et al. Among authors: carecchio m. Neurology. 2019 Nov 5;93(19):854-855. doi: 10.1212/WNL.0000000000008449. Neurology. 2019. PMID: 31685704 No abstract available.
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.
Clinical, cognitive, and morphometric profiles of progressive supranuclear palsy phenotypes.
Campagnolo M, Weis L, Fogliano C, Cianci V, Garon M, Fiorenzato E, Carecchio M, Ferreri F, Bisiacchi P, Antonini A, Biundo R. Campagnolo M, et al. Among authors: carecchio m. J Neural Transm (Vienna). 2023 Feb;130(2):97-109. doi: 10.1007/s00702-023-02591-z. Epub 2023 Jan 26. J Neural Transm (Vienna). 2023. PMID: 36701008 Free PMC article.
All MRI parameters had good discriminative efficacy vs. HCs, with P/M 2.0 discriminating PSP-PGF from PSP-RS and PSP-Cog. We highlighted discrete clinical and imaging patterns that best characterize different PSP phenotypes. ...
All MRI parameters had good discriminative efficacy vs. HCs, with P/M 2.0 discriminating PSP-PGF from PSP-RS and PSP-Cog. We highligh …
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.
(Arg145His) as the only segregating variant in a dominant British pedigree with seven subjects affected by M-D. A subsequent screening in a cohort of M-D cases without mutations in SGCE revealed the same KCTD17 variant in a German family. ...In conclusion, we demons …
(Arg145His) as the only segregating variant in a dominant British pedigree with seven subjects affected by M-D. A subsequent screenin …
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.
Myoclonus-dystonia (M-D) is a very rare movement disorder, caused in 30-50% of cases by mutations in SGCE. ...The variant was detected in a single sporadic case with M-D, but in none of the 146 probands with familial M-D. Overall, the variant was present at c …
Myoclonus-dystonia (M-D) is a very rare movement disorder, caused in 30-50% of cases by mutations in SGCE. ...The variant was detecte …
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.
Chelban V, Carecchio M, Rea G, Bowirrat A, Kirmani S, Magistrelli L, Efthymiou S, Schottlaender L, Vandrovcova J, Salpietro V, Salsano E, Pareyson D, Chiapparini L, Jan F, Ibrahim S, Khan F, Qarnain Z, Groppa S, Bajaj N, Balint B, Bhatia KP, Lees A, Morrison PJ, Wood NW, Garavaglia B, Houlden H. Chelban V, et al. Among authors: carecchio m. Neurol Genet. 2020 Feb 20;6(2):e399. doi: 10.1212/NXG.0000000000000399. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32211515 Free PMC article.
Effect of Intensive Rehabilitation Program in Thermal Water on a Group of People with Parkinson's Disease: A Retrospective Longitudinal Study.
Di Marco R, Pistonesi F, Cianci V, Biundo R, Weis L, Tognolo L, Baba A, Rubega M, Gentile G, Tedesco C, Carecchio M, Antonini A, Masiero S. Di Marco R, et al. Among authors: carecchio m. Healthcare (Basel). 2022 Feb 14;10(2):368. doi: 10.3390/healthcare10020368. Healthcare (Basel). 2022. PMID: 35206982 Free PMC article.
Cognitive and motor status, functional abilities and quality of life were assessed at baseline and after an intensive rehabilitation program in thermal water (12 sessions of 45 min in a 1.4 m depth pool at 32-36 C). The Mini Balance Evaluation System Test (Mini-BESTest) an …
Cognitive and motor status, functional abilities and quality of life were assessed at baseline and after an intensive rehabilitation program …
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
Carecchio M, Magliozzi M, Copetti M, Ferraris A, Bernardini L, Bonetti M, Defazio G, Edwards MJ, Torrente I, Pellegrini F, Comi C, Bhatia KP, Valente EM. Carecchio M, et al. Mov Disord. 2013 Jun;28(6):787-94. doi: 10.1002/mds.25506. Epub 2013 May 15. Mov Disord. 2013. PMID: 23677909
Mutations or exon deletions of the epsilon-sarcoglycan (SGCE) gene cause myoclonus-dystonia (M-D), but a subset of M-D patients are mutation-negative and the sensitivity and specificity of current genetic testing criteria are unknown. We screened 46 newly enrolled …
Mutations or exon deletions of the epsilon-sarcoglycan (SGCE) gene cause myoclonus-dystonia (M-D), but a subset of M-D patient …
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A, Zampieri S, Gellera C, Carrozzo R, Cattarossi S, Peruzzo P, Dariol R, Sechi A, Deodato F, Caccia C, Verrigni D, Gasperini S, Fiumara A, Fecarotta S, Carecchio M, Filosto M, Santoro L, Borroni B, Bordugo A, Brancati F, Russo CV, Di Rocco M, Toscano A, Scarpa M, Bembi B. Dardis A, et al. Among authors: carecchio m. J Clin Med. 2020 Mar 3;9(3):679. doi: 10.3390/jcm9030679. J Clin Med. 2020. PMID: 32138288 Free PMC article.