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Page 1
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G, Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'Angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S, Pandolfo M, Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT. Crippa F, et al. Among authors: martinuzzi a. Arch Neurol. 2006 May;63(5):750-5. doi: 10.1001/archneur.63.5.750. Arch Neurol. 2006. PMID: 16682546
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
Arnoldi A, Tonelli A, Crippa F, Villani G, Pacelli C, Sironi M, Pozzoli U, D'Angelo MG, Meola G, Martinuzzi A, Crimella C, Redaelli F, Panzeri C, Renieri A, Comi GP, Turconi AC, Bresolin N, Bassi MT. Arnoldi A, et al. Among authors: martinuzzi a. Hum Mutat. 2008 Apr;29(4):522-31. doi: 10.1002/humu.20682. Hum Mutat. 2008. PMID: 18200586
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.
Martinuzzi A, Montanaro D, Vavla M, Paparella G, Bonanni P, Musumeci O, Brighina E, Hlavata H, Rossi G, Aghakhanyan G, Martino N, Baratto A, D'Angelo MG, Peruch F, Fantin M, Arnoldi A, Citterio A, Vantaggiato C, Rizzo V, Toscano A, Bresolin N, Bassi MT. Martinuzzi A, et al. PLoS One. 2016 Apr 14;11(4):e0153283. doi: 10.1371/journal.pone.0153283. eCollection 2016. PLoS One. 2016. PMID: 27077743 Free PMC article.
Functional and Structural Brain Damage in Friedreich's Ataxia.
Vavla M, Arrigoni F, Nordio A, De Luca A, Pizzighello S, Petacchi E, Paparella G, D'Angelo MG, Brighina E, Russo E, Fantin M, Colombo P, Martinuzzi A. Vavla M, et al. Among authors: martinuzzi a. Front Neurol. 2018 Sep 6;9:747. doi: 10.3389/fneur.2018.00747. eCollection 2018. Front Neurol. 2018. PMID: 30237783 Free PMC article.
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A. Coarelli G, et al. Among authors: martinuzzi a. Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8. Neurology. 2019. PMID: 31068484 Free PMC article.
224 results