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

Year Number of Results
1984 1
1986 1
1987 4
1988 3
1989 1
1990 3
1991 2
1992 5
1993 3
1995 3
1996 2
1998 1
1999 2
2000 1
2001 1
2002 4
2003 8
2004 5
2005 10
2006 12
2007 3
2008 11
2009 19
2010 6
2011 8
2012 13
2013 8
2014 14
2015 6
2016 7
2017 4
2018 5
2019 4
2020 15
2021 10
2022 14
2023 13
2024 10
2025 7

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223 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.
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.
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.
Very Low Calorie Ketogenic Diet: What Effects on Lipid Metabolism?
Suarez R, Chapela S, Llobera ND, Montalván M, Vásquez CA, Martinuzzi ALN, Katsanos CS, Verde L, Frias-Toral E, Barrea L, Muscogiuri G. Suarez R, et al. Among authors: martinuzzi aln. Curr Nutr Rep. 2024 Sep;13(3):516-526. doi: 10.1007/s13668-024-00556-6. Epub 2024 Jul 15. Curr Nutr Rep. 2024. PMID: 39008211 Free PMC article. Review.
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Vecchia SD, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Cioffi E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM. Vecchia SD, et al. Among authors: martinuzzi a. J Neurol. 2022 Jan;269(1):437-450. doi: 10.1007/s00415-021-10792-3. Epub 2021 Sep 6. J Neurol. 2022. PMID: 34487232
Obesity and Obesity-Related Thyroid Dysfunction: Any Potential Role for the Very Low-Calorie Ketogenic Diet (VLCKD)?
Chapela SP, Simancas-Racines A, Ceriani F, Martinuzzi ALN, Russo MP, Zambrano AK, Simancas-Racines D, Verde L, Muscogiuri G, Katsanos CS, Frias-Toral E, Barrea L. Chapela SP, et al. Among authors: martinuzzi aln. Curr Nutr Rep. 2024 Jun;13(2):194-213. doi: 10.1007/s13668-024-00528-w. Epub 2024 Mar 25. Curr Nutr Rep. 2024. PMID: 38526760 Free PMC article. Review.
Functional MRI Studies in Friedreich's Ataxia: A Systematic Review.
Vavla M, Arrigoni F, Peruzzo D, Montanaro D, Frijia F, Pizzighello S, De Luca A, Della Libera E, Tessarotto F, Guerra P, Harding IH, Martinuzzi A. Vavla M, et al. Among authors: martinuzzi a. Front Neurol. 2022 Mar 10;12:802496. doi: 10.3389/fneur.2021.802496. eCollection 2021. Front Neurol. 2022. PMID: 35360279 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.
223 results