CARECCHIO, MIRYAM
CARECCHIO, MIRYAM
Dipartimento di Neuroscienze - DNS
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
2015 Mencacci, N. E.; Rubio-Agusti, I.; Zdebik, A.; Asmus, F.; Ludtmann, M. H. R.; Ryten, M.; Plagnol, V.; Hauser, A. -K.; Bandres-Ciga, S.; Bettencourt, C.; Forabosco, P.; Hughes, D.; Soutar, M. M. P.; Peall, K.; Morris, H. R.; Trabzuni, D.; Tekman, M.; Stanescu, H. C.; Kleta, R.; Carecchio, M.; Zorzi, G.; Nardocci, N.; Garavaglia, B.; Lohmann, E.; Weissbach, A.; Klein, C.; Hardy, J.; Pittman, A. M.; Foltynie, T.; Abramov, A. Y.; Gasser, T.; Bhatia, K. P.; Wood, N. W.
A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome
2022 Lenzini, L.; Carecchio, M.; Iori, E.; Legati, A.; Lamantea, E.; Avogaro, A.; Vitturi, N.
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b
2016 Corrado, Lara; Magri, S.; Bagarotti, A.; Carecchio, M.; Piscosquito, G.; Pareyson, D.; Varrasi, C.; Vecchio, D.; Zonta, A.; Cantello, R.; Taroni, F.; D'Alfonso, S.
A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations
2017 Esposito, S.; Carecchio, M.; Tonduti, D.; Saletti, V.; Panteghini, C.; Chiapparini, L.; Zorzi, G.; Pantaleoni, C.; Garavaglia, B.; Krainc, D.; Lubbe, S. J.; Nardocci, N.; Mencacci, N. E.
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients
2017 Carecchio, M.; Mencacci, N. E.; Iodice, A.; Pons, R.; Panteghini, C.; Zorzi, G.; Zibordi, F.; Bonakis, A.; Dinopoulos, A.; Jankovic, J.; Stefanis, L.; Bhatia, K. P.; Monti, V.; R'Bibo, L.; Veneziano, L.; Garavaglia, B.; Fusco, C.; Wood, N.; Stamelou, M.; Nardocci, N.
Adult diagnosis of Cockayne syndrome
2019 Cocco, A.; Calandrella, D.; Carecchio, M.; Garavaglia, B.; Albanese, A.
Adult-Onset Focal Chorea in Fahr's Disease Resulting From SLC20A2 Mutation: A Novel Phenotype
2015 Carecchio, M.; Barzaghi, C.; Varrasi, C.; Cantello, R.; Garavaglia, B.
An adult patient with 3-methylglutaconic aciduria type 1 and movement disorders
2022 Mainardi, M; Lerjefors, L; Bonato, G; Bertolin, C; Salviati, L; Carecchio, M
Antiphospholipid-Related Chorea: Two Case Reports and Role of Metabolic Imaging
2022 Lerjefors, Lisa; Andretta, Silvia; Bonato, Giulia; Mainardi, Michele; Carecchio, Miryam; Antonini, Angelo
ATP1A3-related disorders: An update
2018 Carecchio, M.; Zorzi, G.; Ragona, F.; Zibordi, F.; Nardocci, N.
Atypical Parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review
2010 Alonso-Canovas, A.; Katschnig, P.; Tucci, A.; Carecchio, M.; Wood, N. W.; Edwards, M.; Martinez Castrillo, J. C.; Burke, D.; Heales, S.; Bhatia, K. P.
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients
2010 Alazami, A. M.; Schneider, S. A.; Bonneau, D.; Pasquier, L.; Carecchio, M.; Kojovic, M.; Steindl, K.; De Kerdanet, M.; Nezarati, M. M.; Bhatia, K. P.; Degos, B.; Goh, E.; Alkuraya, F. S.
CANS: Childhood acute neuropsychiatric syndromes
2018 Zibordi, F.; Zorzi, G; Carecchio, M; Nardocci, N.
Cerebellar and cortical hypometabolism in progressive stimulus-sensitive limb myoclonus in celiac disease
2021 Mozzetta, S.; Carecchio, M.; Gazzola, G.; Cecchin, D.; Cagnin, A.
Cerebellar and cortical hypometabolism in progressive stimulus-sensitive limb myoclonus in celiac disease (Apr, 10.1007/s10072-021-05264-5, 2021)
2021 Mozzetta, S; Carecchio, M; Gazzola, G; Cecchin, D; Cagnin, A
Cerebrospinal fluid biomarkers in progranulin mutations carriers
2011 Carecchio, M.; Fenoglio, C.; Cortini, F.; Comi, C.; Benussi, L.; Ghidoni, R.; Borroni, B.; De Riz, M.; Serpente, M.; Cantoni, C.; Franceschi, M.; Albertini, V.; Monaco, F.; Rainero, I.; Binetti, G.; Padovani, A.; Bresolin, N.; Scarpini, E.; Galimberti, D.
Complex movement disorders in primary antiphospholipid syndrome: A case report
2009 Carecchio, M.; Comi, C.; Varrasi, C.; Stecco, A.; Sainaghi, P. P.; Bhatia, K.; Carriero, A.; Cantello, R.; Monaco, F.
Correction to: Long-term safety, discontinuation and mortality in an Italian cohort with advanced Parkinson’s disease on levodopa/carbidopa intestinal gel infusion (Journal of Neurology, (2022), 269, 10, (5606-5614), 10.1007/s00415-022-11269-7)
2022 Garri, F.; Russo, F. P.; Carrer, T.; Weis, L.; Pistonesi, F.; Mainardi, M.; Sandre, M.; Savarino, E.; Farinati, F.; Del Sorbo, F.; Soliveri, P.; Calandrella, D.; Biundo, R.; Carecchio, M.; Zecchinelli, A. L.; Pezzoli, G.; Antonini, A.
Corrigendum to “Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum” (Brain and Development (2019) 41(3) (250–256), (S0387760418304959), (10.1016/j.braindev.2018.10.001))
2019 Iodice, A.; Carecchio, M.; Zorzi, G.; Garavaglia, B.; Spagnoli, C.; Salerno, G. G.; Frattini, D.; Mencacci, N. E.; Invernizzi, F.; Veneziano, L.; Mantuano, E.; Angriman, M.; Fusco, C.
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
2016 Mencacci, N. E.; Kamsteeg, E. -J.; Nakashima, K.; R'Bibo, L.; Lynch, D. S.; Balint, B.; Willemsen, M. A. A. P.; Adams, M. E.; Wiethoff, S.; Suzuki, K.; Davies, C. H.; Ng, JULIA CHI YAN; Meyer, E.; Veneziano, L.; Giunti, P.; Hughes, D.; Raymond, F. L.; Carecchio, M.; Zorzi, G.; Nardocci, N.; Barzaghi, C.; Garavaglia, B.; Salpietro, V.; Hardy, J.; Pittman, A. M.; Houlden, H.; Kurian, M. A.; Kimura, H.; Vissers, L. E. L. M.; Wood, N. W.; Bhatia, K. P.