Alessio Di Fonzo
Alessio Di Fonzo
IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Dino Ferrari Center
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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
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
A Di Fonzo, MCJ Dekker, P Montagna, A Baruzzi, EH Yonova, LC Guedes, ...
Neurology 72 (3), 240-245, 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
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 (3), 133-138, 2006
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
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
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 (6), 857-863, 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
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
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
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
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
The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease
CS Lu, EJ Simons, YH Wu-Chou, A Di Fonzo, HC Chang, RS Chen, ...
Parkinsonism & related disorders 11 (8), 521-522, 2005
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 (1), 33-39, 2011
High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal
JJ Ferreira, LC Guedes, MM Rosa, M Coelho, M Van Doeselaar, ...
Movement Disorders 22 (8), 1194-1201, 2007
Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain
R Del Bo, A Bordoni, M Sciacco, A Di Fonzo, S Galbiati, M Crimi, ...
Neurology 61 (7), 903-908, 2003
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 (1), 43-47, 2016
The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population
CS Lu, YH Wu-Chou, M Van Doeselaar, EJ Simons, HC Chang, ...
Neurogenetics 9 (4), 271, 2008
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
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
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