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

Year Number of Results
2001 1
2002 4
2003 5
2004 3
2005 9
2006 10
2007 2
2008 10
2009 18
2010 5
2011 4
2012 6
2013 8
2014 12
2015 5
2016 6
2017 3
2018 5
2019 4
2020 14
2021 9
2022 13
2023 11
2024 1

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146 results

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Page 1
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy.
Danese A, Patergnani S, Maresca A, Peron C, Raimondi A, Caporali L, Marchi S, La Morgia C, Del Dotto V, Zanna C, Iannielli A, Segnali A, Di Meo I, Cavaliere A, Lebiedzinska-Arciszewska M, Wieckowski MR, Martinuzzi A, Moraes-Filho MN, Salomao SR, Berezovsky A, Belfort R Jr, Buser C, Ross-Cisneros FN, Sadun AA, Tacchetti C, Broccoli V, Giorgi C, Tiranti V, Carelli V, Pinton P. Danese A, et al. Among authors: martinuzzi a. Cell Rep. 2022 Jul 19;40(3):111124. doi: 10.1016/j.celrep.2022.111124. Cell Rep. 2022. PMID: 35858578 Free PMC article.
20 Years of ICF-International Classification of Functioning, Disability and Health: Uses and Applications around the World.
Leonardi M, Lee H, Kostanjsek N, Fornari A, Raggi A, Martinuzzi A, Yáñez M, Almborg AH, Fresk M, Besstrashnova Y, Shoshmin A, Castro SS, Cordeiro ES, Cuenot M, Haas C, Maart S, Maribo T, Miller J, Mukaino M, Snyman S, Trinks U, Anttila H, Paltamaa J, Saleeby P, Frattura L, Madden R, Sykes C, Gool CHV, Hrkal J, Zvolský M, Sládková P, Vikdal M, Harðardóttir GA, Foubert J, Jakob R, Coenen M, Kraus de Camargo O. Leonardi M, et al. Among authors: martinuzzi a. Int J Environ Res Public Health. 2022 Sep 8;19(18):11321. doi: 10.3390/ijerph191811321. Int J Environ Res Public Health. 2022. PMID: 36141593 Free PMC article. Review.
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: martinuzzi a. 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.
Respiratory Function in Friedreich's Ataxia.
Vinante E, Colombo E, Paparella G, Martinuzzi M, Martinuzzi A. Vinante E, et al. Among authors: martinuzzi a. Children (Basel). 2022 Aug 29;9(9):1319. doi: 10.3390/children9091319. Children (Basel). 2022. PMID: 36138628 Free PMC article.
Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia.
Rezende TJR, Adanyeguh IM, Arrigoni F, Bender B, Cendes F, Corben LA, Deistung A, Delatycki M, Dogan I, Egan GF, Göricke SL, Georgiou-Karistianis N, Henry PG, Hutter D, Jahanshad N, Joers JM, Lenglet C, Lindig T, Martinez ARM, Martinuzzi A, Paparella G, Peruzzo D, Reetz K, Romanzetti S, Schöls L, Schulz JB, Synofzik M, Thomopoulos SI, Thompson PM, Timmann D, Harding IH, França MC Jr. Rezende TJR, et al. Among authors: martinuzzi a. Mov Disord. 2023 Jan;38(1):45-56. doi: 10.1002/mds.29261. Epub 2022 Oct 29. Mov Disord. 2023. PMID: 36308733 Free PMC article.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Ebrahimi-Fakhari D, et al. Among authors: martinuzzi a. Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. Brain. 2020. PMID: 32979048 Free PMC article.
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.
Karazi W, Scalco RS, Stemmerik MG, Løkken N, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, Toscano A, Musumeci O, Kouwenberg CV, Laforêt P, Millán BS, Vieitez I, Siciliano G, Kühnle E, Trost R, Sacconi S, Durmus H, Kierdaszuk B, Wakelin A, Andreu AL, Pinós T, Marti R, Quinlivan R, Vissing J, Voermans NC; EUROMAC Consortium. Karazi W, et al. Among authors: martinuzzi a. Orphanet J Rare Dis. 2023 Jul 25;18(1):210. doi: 10.1186/s13023-023-02825-z. Orphanet J Rare Dis. 2023. PMID: 37488619 Free PMC article.
146 results