Alessio Di Fonzo
Alessio Di Fonzo
IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Dino Ferrari Center
Email verificata su policlinico.mi.it
Titolo
Citata da
Citata da
Anno
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
74332021
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
5792005
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
3582009
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
3322007
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
2522006
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
2012005
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
1842006
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
1692007
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), 1003-1005, 2015
1342015
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
1302009
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
1122013
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
1082003
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
1072006
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
882011
The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease.
CS Lu, EJ Simons, YH Wu-Chou, AD Fonzo, HC Chang, RS Chen, ...
Parkinsonism & related disorders 11 (8), 521-522, 2005
882005
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
832016
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
802007
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
782003
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
702008
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
602018
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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