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Page 1
Adult-onset KMT2B-related dystonia.
Monfrini E, Ciolfi A, Cavallieri F, Ferilli M, Soliveri P, Pedace L, Erro R, Del Sorbo F, Valzania F, Fioravanti V, Cossu G, Pellegrini M, Salviati L, Invernizzi F, Oppo V, Murgia D, Giometto B, Picillo M, Garavaglia B, Morgante F, Tartaglia M, Carecchio M, Di Fonzo A. Monfrini E, et al. Among authors: del sorbo f. Brain Commun. 2022 Oct 26;4(6):fcac276. doi: 10.1093/braincomms/fcac276. eCollection 2022. Brain Commun. 2022. PMID: 36483457 Free PMC article.
EFAS/EAN survey on the influence of the COVID-19 pandemic on European clinical autonomic education and research.
Fanciulli A, Skorić MK, Leys F, Carneiro DR, Campese N, Calandra-Buonaura G, Camaradou J, Chiaro G, Cortelli P, Falup-Pecurariu C, Granata R, Guaraldi P, Helbok R, Hilz MJ, Iodice V, Jordan J, Kaal ECA, Kamondi A, Le Traon AP, Rocha I, Sellner J, Senard JM, Terkelsen A, Wenning GK, Moro E, Berger T, Thijs RD, Struhal W, Habek M; Collaborators of European Network of Neurological Autonomic Laboratories. Fanciulli A, et al. Clin Auton Res. 2023 Dec;33(6):777-790. doi: 10.1007/s10286-023-00985-3. Epub 2023 Oct 4. Clin Auton Res. 2023. PMID: 37792127 Free PMC article.
Development and Validation of a Prognostic Model to Predict Overall Survival in Multiple System Atrophy.
Eschlboeck S, Goebel G, Eckhardt C, Fanciulli A, Raccagni C, Boesch S, Djamshidian A, Heim B, Mahlknecht P, Mair K, Nachbauer W, Scherfler C, Stockner H, Poewe W, Seppi K, Kiechl S, Wenning G, Krismer F; and the EMSA‐SG NHS Investigators; Barone P, Pellecchia MT, Quinn NP, Fowler CJ, Schrag A, Giladi N, Gurevich T, Ostergaard K, Widner H, Oertel W, Albanese A, Tolosa E, Deuschl G, Klockgether T, Dodel R, Sampaio C, Melamed E, Gasser T, Colosimo C, Rascol O, Meissner W, Tison F, Geser F, Duerr S, Boesch S, Köllensperger M, Koukouni V, Mathias CJ, Dupont E, Nilsson CF, Eggert KM, Del Sorbo F, Cardozo A, Hellriegel H, Coelho M, Djaldetti R, Kamm C, Meco G. Eschlboeck S, et al. Among authors: del sorbo f. Mov Disord Clin Pract. 2023 Jul 17;10(9):1368-1376. doi: 10.1002/mdc3.13822. eCollection 2023 Sep. Mov Disord Clin Pract. 2023. PMID: 37772304 Free PMC article.
Mutant COQ2 in multiple-system atrophy.
Sharma M, Wenning G, Krüger R; European Multiple-System Atrophy Study Group (EMSA-SG). Sharma M, et al. N Engl J Med. 2014 Jul 3;371(1):80-1. doi: 10.1056/NEJMc1311763. N Engl J Med. 2014. PMID: 24988568 No abstract available.
Excessive daytime sleepiness in multiple system atrophy (SLEEMSA study).
Moreno-López C, Santamaría J, Salamero M, Del Sorbo F, Albanese A, Pellecchia MT, Barone P, Overeem S, Bloem B, Aarden W, Canesi M, Antonini A, Duerr S, Wenning GK, Poewe W, Rubino A, Meco G, Schneider SA, Bhatia KP, Djaldetti R, Coelho M, Sampaio C, Cochen V, Hellriegel H, Deuschl G, Colosimo C, Marsili L, Gasser T, Tolosa E. Moreno-López C, et al. Among authors: del sorbo f. Arch Neurol. 2011 Feb;68(2):223-30. doi: 10.1001/archneurol.2010.359. Arch Neurol. 2011. PMID: 21320989
SNCA variants are associated with increased risk for multiple system atrophy.
Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T. Scholz SW, et al. Among authors: del sorbo f. Ann Neurol. 2009 May;65(5):610-4. doi: 10.1002/ana.21685. Ann Neurol. 2009. PMID: 19475667 Free PMC article.
The natural history of multiple system atrophy: a prospective European cohort study.
Wenning GK, Geser F, Krismer F, Seppi K, Duerr S, Boesch S, Köllensperger M, Goebel G, Pfeiffer KP, Barone P, Pellecchia MT, Quinn NP, Koukouni V, Fowler CJ, Schrag A, Mathias CJ, Giladi N, Gurevich T, Dupont E, Ostergaard K, Nilsson CF, Widner H, Oertel W, Eggert KM, Albanese A, del Sorbo F, Tolosa E, Cardozo A, Deuschl G, Hellriegel H, Klockgether T, Dodel R, Sampaio C, Coelho M, Djaldetti R, Melamed E, Gasser T, Kamm C, Meco G, Colosimo C, Rascol O, Meissner WG, Tison F, Poewe W; European Multiple System Atrophy Study Group. Wenning GK, et al. Among authors: del sorbo f. Lancet Neurol. 2013 Mar;12(3):264-74. doi: 10.1016/S1474-4422(12)70327-7. Epub 2013 Feb 5. Lancet Neurol. 2013. PMID: 23391524 Free PMC article.
Isolated limb dystonia as presenting feature of Parkin disease.
Elia AE, Del Sorbo F, Romito LM, Barzaghi C, Garavaglia B, Albanese A. Elia AE, et al. Among authors: del sorbo f. J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):827-8. doi: 10.1136/jnnp-2013-307294. Epub 2014 Mar 21. J Neurol Neurosurg Psychiatry. 2014. PMID: 24659796 No abstract available.
Mutational analysis of COQ2 in patients with MSA in Italy.
Ronchi D, Di Biase E, Franco G, Melzi V, Del Sorbo F, Elia A, Barzaghi C, Garavaglia B, Bergamini C, Fato R, Mora G, Del Bo R, Fortunato F, Borellini L, Trezzi I, Compagnoni GM, Monfrini E, Frattini E, Bonato S, Cogiamanian F, Ardolino G, Priori A, Bresolin N, Corti S, Comi GP, Di Fonzo A. Ronchi D, et al. Among authors: del bo r, del sorbo f. Neurobiol Aging. 2016 Sep;45:213.e1-213.e2. doi: 10.1016/j.neurobiolaging.2016.05.022. Epub 2016 Jun 7. Neurobiol Aging. 2016. PMID: 27394078
44 results