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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1947 1
1949 1
1950 4
1952 1
1956 1
1957 1
1958 1
1960 2
1967 1
1968 1
1969 1
1971 1
1972 1
1975 3
1976 2
1977 3
1978 4
1979 4
1980 3
1981 1
1982 2
1983 5
1984 3
1985 2
1986 3
1987 3
1988 2
1989 6
1990 7
1991 5
1992 6
1993 7
1994 5
1995 5
1996 9
1997 6
1998 13
1999 10
2000 7
2001 9
2002 6
2003 11
2004 15
2005 12
2006 18
2007 13
2008 15
2009 12
2010 12
2011 14
2012 19
2013 24
2014 19
2015 16
2016 14
2017 14
2018 19
2019 20
2020 19
2021 15
2022 14
2023 18
2024 6

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Search Results

445 results

Results by year

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Page 1
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium; Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. Van de Vondel L, et al. Among authors: de michele g. Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12. Mov Disord. 2022. PMID: 35150594 Free PMC article.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, Fico T, Fiorillo C, Galosi S, Lieto M, Malandrini A, Melone MAB, Mignarri A, Natale G, Pegoraro E, Petrucci A, Ricca I, Riso V, Rossi S, Rubegni A, Scarlatti A, Tinelli F, Trovato R, Tedeschi G, Tessa A, Filla A, Santorelli FM. Galatolo D, et al. Among authors: de michele g. Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490. Int J Mol Sci. 2021. PMID: 34445196 Free PMC article.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: de michele g. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tu… See abstract for full author list ➔ Vollstedt EJ, et al. Among authors: de michele g. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Fevga C, Tesson C, Carreras Mascaro A, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, Kessissoglou IA, Kuipers DJS, Quadri M; French and Mediterranean Parkinson disease Genetics Study Group; International Parkinsonism Genetics Network; Corvol JC, Mhiri C, Hassan BA, Breedveld GJ, Lesage S, Mandemakers W, Brice A, Bonifati V. Fevga C, et al. Brain. 2023 Apr 19;146(4):1496-1510. doi: 10.1093/brain/awac326. Brain. 2023. PMID: 36073231 Free PMC article.
Visceral adipose tissue and residual cardiovascular risk: a pathological link and new therapeutic options.
Cesaro A, De Michele G, Fimiani F, Acerbo V, Scherillo G, Signore G, Rotolo FP, Scialla F, Raucci G, Panico D, Gragnano F, Moscarella E, Scudiero O, Mennitti C, Calabrò P. Cesaro A, et al. Among authors: de michele g. Front Cardiovasc Med. 2023 Jul 27;10:1187735. doi: 10.3389/fcvm.2023.1187735. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37576108 Free PMC article. Review.
Spinocerebellar ataxia type 48: last but not least.
De Michele G, Galatolo D, Barghigiani M, Dello Iacovo D, Trovato R, Tessa A, Salvatore E, Filla A, De Michele G, Santorelli FM. De Michele G, et al. Neurol Sci. 2020 Sep;41(9):2423-2432. doi: 10.1007/s10072-020-04408-3. Epub 2020 Apr 27. Neurol Sci. 2020. PMID: 32342324 Review.
Antiphospholipid-related chorea.
Peluso S, Antenora A, De Rosa A, Roca A, Maddaluno G, Brescia Morra V, De Michele G. Peluso S, et al. Among authors: de michele g. Front Neurol. 2012 Oct 22;3:150. doi: 10.3389/fneur.2012.00150. eCollection 2012. Front Neurol. 2012. PMID: 23097646 Free PMC article.
Incidence and Long-term Functional Outcome of Neurologic Disorders in Hospitalized Patients With COVID-19 Infected With Pre-Omicron Variants.
Beretta S, Cristillo V, Camera G, Morotti Colleoni C, Pellitteri G, Viti B, Bianchi E, Gipponi S, Grimoldi M, Valente M, Guttmann S, Cotelli MS, Palumbo P, Gelosa G, Meletti S, Schenone C, Ottaviani D, Filippi M, Zini A, Basilico P, Tancredi L, Cortelli P, Braga M, De Giuli V, Servidei S, Paolicelli D, Verde F, Caproni S, Pisani A, Lo Re V, Massacesi L, Roccatagliata DV, Manganotti P, Spitaleri D, Formenti A, Piccioli M, Marino S, Polverino P, Aguglia U, Ornello R, Perego E, Siciliano G, Merlo P, Capobianco M, Pantoni L, Lugaresi A, Angelocola S, De Rosa A, Sessa M, Beghi E, Agostoni EC, Monaco S, Padovani A, Priori A, Silani V, Tedeschi G, Ferrarese C; for Neuro-COVID Italy. Beretta S, et al. Neurology. 2023 Aug 29;101(9):e892-e903. doi: 10.1212/WNL.0000000000207534. Epub 2023 Jul 6. Neurology. 2023. PMID: 37414564 Free PMC article.
445 results