Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ... autophagy 17 (1), 1-382, 2021 | 10682 | 2021 |
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease A Di Fonzo, CF Rohé, J Ferreira, HF Chien, L Vacca, F Stocchi, L Guedes, ... The Lancet 365 (9457), 412-415, 2005 | 672 | 2005 |
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome AD Fonzo, MCJ Dekker, P Montagna, A Baruzzi, EH Yonova, LC Guedes, ... Neurology 72 (3), 240-245, 2009 | 456 | 2009 |
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease A Di Fonzo, HF Chien, M Socal, S Giraudo, C Tassorelli, G Iliceto, ... Neurology 68 (19), 1557-1562, 2007 | 447 | 2007 |
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan A Di Fonzo, YH Wu-Chou, CS Lu, M Van Doeselaar, EJ Simons, CF Rohé, ... neurogenetics 7, 133-138, 2006 | 283 | 2006 |
GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic Approaches GM Riboldi, AB Di Fonzo Cells 8 (4), 364, 2019 | 253 | 2019 |
The role of mitochondria in neurodegenerative diseases: the lesson from Alzheimer’s disease and Parkinson’s disease G Monzio Compagnoni, A Di Fonzo, S Corti, GP Comi, N Bresolin, ... Molecular neurobiology 57, 2959-2980, 2020 | 237 | 2020 |
The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson’s disease and originates from a common ancestor S Goldwurm, A Di Fonzo, EJ Simons, CF Rohe, M Zini, M Canesi, S Tesei, ... Journal of Medical Genetics 42 (11), e65-e65, 2005 | 226 | 2005 |
Adaptive deep brain stimulation in a freely moving parkinsonian patient M Rosa, M Arlotti, G Ardolino, F Cogiamanian, S Marceglia, A Di Fonzo, ... Movement Disorders 30 (7), 1003, 2015 | 225 | 2015 |
Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease A Di Fonzo, C Tassorelli, M De Mari, HF Chien, J Ferreira, CF Rohé, ... European journal of human genetics 14 (3), 322-331, 2006 | 214 | 2006 |
The LRRK2 Gly2385Arg variant is associated with Parkinson’s disease: genetic and functional evidence EK Tan, Y Zhao, L Skipper, MG Tan, A Di Fonzo, L Sun, S Fook-Chong, ... Human genetics 120, 857-863, 2007 | 189 | 2007 |
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency A Di Fonzo, D Ronchi, T Lodi, E Fassone, M Tigano, C Lamperti, S Corti, ... The American Journal of Human Genetics 84 (5), 594-604, 2009 | 153 | 2009 |
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability D Ronchi, A Di Fonzo, W Lin, A Bordoni, C Liu, E Fassone, S Pagliarani, ... The American Journal of Human Genetics 92 (2), 293-300, 2013 | 150 | 2013 |
Cerebellar and motor cortical transcranial stimulation decrease levodopa-induced dyskinesias in Parkinson’s disease R Ferrucci, F Cortese, M Bianchi, D Pittera, R Turrone, T Bocci, B Borroni, ... The Cerebellum 15, 43-47, 2016 | 133 | 2016 |
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study M Quadri, W Mandemakers, MM Grochowska, R Masius, H Geut, ... The Lancet Neurology 17 (7), 597-608, 2018 | 126 | 2018 |
LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample S Goldwurm, M Zini, A Di Fonzo, D De Gaspari, C Siri, EJ Simons, ... Parkinsonism & related disorders 12 (7), 410-419, 2006 | 121 | 2006 |
Adaptive deep brain stimulation controls levodopa‐induced side effects in Parkinsonian patients M Rosa, M Arlotti, S Marceglia, F Cogiamanian, G Ardolino, A Di Fonzo, ... Movement Disorders 32 (4), 628, 2017 | 119 | 2017 |
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions AD Fonzo, A Bordoni, M Crimi, G Sara, RD Bo, N Bresolin, GP Comi Human mutation 22 (6), 498-499, 2003 | 119 | 2003 |
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability L Santoro, GJ Breedveld, F Manganelli, R Iodice, C Pisciotta, M Nolano, ... Neurogenetics 12, 33-39, 2011 | 112 | 2011 |
GBA‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort S Petrucci, M Ginevrino, I Trezzi, E Monfrini, L Ricciardi, A Albanese, ... Movement Disorders 35 (11), 2106-2111, 2020 | 102 | 2020 |