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Pubblicazioni 2017

Mutations in TMEM230 are rare in autosomal dominant Parkinson’s disease.

Buongarzone G., Monfrini E., Franco G., Trezzi I., Borellini L., Frattini E., Melzi V., Di Caprio A.C., Ronchi D., Monzio Compagnoni G., Cogiamanian F., Ardolino G., Bresolin N., Comi G.P., Corti S., Di Fonzo A (2017). Parkinsonism & Related Disorders, 39, 87-88.

- 15/10/2017

The role of glucocerebrosidase in neurodegeneration associated to Gaucher’s Disease and other neurodegenerative diseases

Trezzi, I., Frattini, E., Monfrini, E., Compagnoni, G.M., Arienti, F., Bordoni, A., Salani, S., Bitetto, G., Cassinerio, E., Motta, I., Nascimbeni, F., Carubbi, F., Scarpini, E., Bresolin, N., Comi, G., Corti, S., Cappellini, M., Di Fonzo, A. (XLVIII CONGRESSO NAZIONALE SIN, 14-17 OTTOBRE 2017, NAPOLI).

- 14/10/2017

A de novo C19orf12 heterozygous mutation in a patient with MPAN

Monfrini, E., Buongarzone, G., Dilena, R., Di Fonzo, A. Verona 2017 - III Congresso Accademia LIMPE-DISMOV.

- 10/10/2017

Linkage to chromosome 2q36 in a large pedigree with Parkinson’s disease

Vietnam 2017-XXII World Congress on Parkinson’s Disease and Related Disorders

- 01/01/2017

Glucocerebrosidase mutations in neurodegenerative disorders other than Parkinson’s Disease.

Buongarzone G., Fenoglio, C., Nicoli, J., Monfrini, E., Trezzi, I., Arighi, A., ... & Corti, S. (2017). In MOVEMENT DISORDERS (Vol. 32). 111 RIVER ST, HOBOKEN07030-5774, NJUSA: WILEY.

- 01/01/2017

Identification of a novel de novo heterozygous C19orf12 frameshift mutation in a young woman with Neurodegeneration with Brain Iron Accumulation (NBIA).

Monfrini, E., Buongarzone, G., Dilena, R., Di Fonzo, A. Verona 2017 - III Congresso Accademia LIMPE-DISMOV.

- 01/01/2017

TMEM230 mutations are not frequent in Italian patients with autosomal dominant Parkinson’s disease.

Buongarzone, G., Monfrini, E., Franco, G., Trezzi, I., Borrellini, L., Frattini, E., Ardolino, G., Cogiamanian, F., Di Fonzo, A. Verona 2017 - III Congresso Accademia LIMPE-DISMOV.

- 01/01/2017

A novel RAB39B gene mutation in an Italian family

Ciammola, A., Carrera, P., Cinnante, C., Villa, R., Poletti, B., Girotti, F., Buongarzone, G.,Monfrini, E., Sassone, J., Silani, V., D’Adamo, P., Di Fonzo, A., Bonati, M. T. Verona 2017 - III Congresso Accademia LIMPE-DISMOV

- 01/01/2017

SNCA duplication and heterozygous STUB1 mutation in a patient whit spastic ataxia.

Malaguti, M.C., Monfrini, E., Straniero, L., Duga, S., Di Fonzo, A. Verona 2017 - III Congresso Accademia LIMPE-DISMOV.

- 01/01/2017

Pubblicazioni 2016

Mutations in endocytic recycling protein Rab11FIP3 are associated with ataxia and intellectual disability

Monfrini E, Ronchi D, Di Biase E, Franco G, Melzi V, Bordoni A, Borellini L, Trezzi I, Compagnoni GM, Frattini E, Bonato S, Bresolin N, Corti S, Comi GP, Di Fonzo A. Scientific Reports, submitted

Neurobiol Aging - 22/05/2016

Evaluation of mitochondrial dysfunction in fibroblasts and iPSC-derived dopaminergic neurons of patients affected by Multiple System Atrophy

Compagnoni GM, Frattini E, Fortunato F, Ronchi D, Bordoni A, Garbellini M, Salani S, Guida M, Bresolin N, Corti S, Comi GP, Di Fonzo A. (2017). In MOVEMENT DISORDERS (Vol. 32). 111 RIVER ST, HOBOKEN07030-5774, NJUSA: WILEY.

- 01/05/2016

Pubblicazioni 2015

Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation

Martino D., Melzi V., Franco G., Kandasamy N., Monfrini E., Di Fonzo A.

Parkinsonism Relat Disord. 2015 - 22/09/2015

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

Di Fonzo A, Ronchi D, Gallia F, Cribiù FM, Trezzi I, Vetro A, Della Mina E, Limongelli I, Bellazzi R, Ricca I, Micieli G, Fassone E, Rizzuti M, Bordoni A, Fortunato F, Salani S, Mora G, Corti S, Ceroni M, Bosari S, Zuffardi O, Bresolin N, Nobile-Orazio E, Comi GP.

Neurology 2014 - 25/05/2015

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism

Malaguti MC, Melzi V, Di Giacopo R, Monfrini E, Di Biase E, Franco G, Borellini L, Trezzi I, Monzio Compagnoni G, Fortis P, Feraco P, Orrico D, Cucurachi L, Donner D, Rizzuti M, Ronchi D, Bonato S, Bresolin N, Corti S, Comi GP, Di Fonzo A.

Parkinsonism Relat Disord. 2015 - 25/05/2015

Pubblicazioni 2013

PINK1 parkinsonism and Parkinson disease: distinguishable brain mitochondrial function and metabolomics.

Rango M, Arighi A, Marotta G, Ronchi D, Bresolin N.

Mitochondrion. 2013 Jan - 31/01/2013

Pubblicazioni 2011

Mitochondrial defect and PGC-1α dysfunction in parkin-associated familial Parkinson’s disease.

Pacelli C, De Rasmo D, Signorile A, Grattagliano I, di Tullio G, D'Orazio A,Nico B, Comi GP, Ronchi D, Ferranini E, Pirolo D, Seibel P, Schubert S, Gaballo A, Villani G, Cocco T.

Biochim Biophys Acta. 2011 Aug - 31/08/2011

Pubblicazioni 2010

Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred.

Sas AM, Di Fonzo A, Bakker SL, Simons EJ, Oostra BA, Maat-Kievit AJ, Boon AJ, Bonifati V.

Mov Disord. 2010 Aug 15 - 15/08/2010

Pubblicazioni 2009

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.

Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappatà S, Di Fonzo A, Oostra BA, Bonifati V.

Neurogenetics. 2011 Feb - 30/11/2009

GIGYF2 mutations are not a frequent cause of familial Parkinson’s disease.

Di Fonzo A, Fabrizio E, Thomas A, Fincati E, Marconi R, Tinazzi M, Breedveld GJ, Simons EJ, Chien HF, Ferreira JJ, Horstink MW, Abbruzzese G, Borroni B, Cossu G, Dalla Libera A, Fabbrini G, Guidi M, De Mari M, Lopiano L, Martignoni E, Marini P, Onofrj M, Padovani A, Stocchi F, Toni V, Sampaio C, Barbosa ER, Meco G;Italian Parkinson Genetics Network, Oostra BA, Bonifati V.

Parkinsonism Relat Disord. 2009 Nov; - 30/11/2009

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.

Di Fonzo A, Dekker MC, Montagna P, Baruzzi A, Yonova EH, Correia Guedes L, Szczerbinska A, Zhao T, Dubbel-Hulsman LO, Wouters CH, de Graaff E, Oyen WJ, Simons EJ, Breedveld GJ, Oostra BA, Horstink MW, Bonifati V.

Neurology. 2009 Jan 20 - 20/01/2009

Pseudo-orthostatic and resting leg tremor in a large Spanish family with homozygous truncating parkin mutation.

Infante J, Berciano J, Sánchez-Juan P, García A, Di Fonzo A, Breedveld G, Oostra B, Bonifati V.

Mov Disord. 2009 Jan 15 - 15/01/2009

Pubblicazioni 2008

The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population.

Lu CS, Wu-Chou YH, van Doeselaar M, Simons EJ, Chang HC, Breedveld GJ, Di Fonzo A, Chen RS, Weng YH, Lai SC, Oostra BA, Bonifati V.

Neurogenetics.2008 Oct - 31/10/2008

International LRRK2 Consortium. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson’s disease: a case-control study.

Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK, Berciano J, Schapira AH, Lynch T, Bhatia KP, Gasser T, Lees AJ, Wood NW.

Lancet Neurol. 2008 Jul - 31/07/2008

Pubblicazioni 2007

High prevalence of LRRK2 mutations in familial and sporadic Parkinson’s disease in Portugal.

Ferreira JJ, Guedes LC, Rosa MM, Coelho M, van Doeselaar M, Schweiger D, Di Fonzo A, Oostra BA, Sampaio C, Bonifati V.

Mov Disord. 2007 Jun 15 - 15/06/2007

Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson’s disease.

Ghione I, Di Fonzo A, Saladino F, Del Bo R, Bresolin N, Comi GP, Rango M.

Neurotoxicology. 2007 May - 31/05/2007

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, Oostra BA, Barbosa ER; Italian Parkinson Genetics Network, Bonifati V.

Neurology. 2007 May 8 - 08/05/2007

LRRK2 mutations and Parkinson’s disease in Sardinia–A Mediterranean genetic isolate.

Cossu G, van Doeselaar M, Deriu M, Melis M, Molari A, Di Fonzo A, Oostra BA, Bonifati V.

Parkinsonism Relat Disord. 2007 Feb - 28/02/2007

Neuropathology of Parkinson’s disease associated with the LRRK2 Ile1371Val mutation.

Giordana MT, D'Agostino C, Albani G, Mauro A, Di Fonzo A, Antonini A, Bonifati V.

Mov Disord. 2007 Jan 15 - 15/01/2007

Pubblicazioni 2006

Striatal dopamine transporter binding in Parkinson’s disease associated with the LRRK2 Gly2019Ser mutation.

Isaias IU, Benti R, Goldwurm S, Zini M, Cilia R, Gerundini P, Di Fonzo A, Bonifati V, Pezzoli G, Antonini A.

Mov Disord. 2006 Aug - 31/10/2006

LRRK2 G2019S mutation and Parkinson’s disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample.

Goldwurm S, Zini M, Di Fonzo A, De Gaspari D, Siri C, Simons EJ, van Doeselaar M, Tesei S, Antonini A, Canesi M, Zecchinelli A, Mariani C, Meucci N, Sacilotto G, Cilia R, Isaias IU, Bonetti A, Sironi F, Ricca S, Oostra BA,Bonifati V, Pezzoli G.

Parkinsonism Relat Disord. 2006 Oct - 31/10/2006

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan.

Di Fonzo A, Wu-Chou YH, Lu CS, van Doeselaar M, Simons EJ, Rohé CF, Chang HC, Chen RS, Weng YH, Vanacore N, Breedveld GJ, Oostra BA, Bonifati V.

Neurogenetics. 2006 Jul - 31/07/2006

Italian Parkinson’s Genetics Network. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson’s disease.

Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohé CF, Riboldazzi G, Antonini A, Albani G, Mauro A, Marconi R, Abbruzzese G, Lopiano L, Fincati E, Guidi M, Marini P, Stocchi F, Onofrj M, Toni V, Tinazzi M, Fabbrini G, Lamberti P, Vanacore N, Meco G, Leitner P, Uitti RJ, Wszolek ZK, Gasser T, Simons EJ, Breedveld GJ, Goldwurm S, Pezzoli G, Sampaio C, Barbosa E, Martignoni E, Oostra BA, Bonifati V.

Parkinsonism Relat Disord. 2009 Nov; - 31/03/2006

Pubblicazioni 2005

The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson’s disease and originates from a common ancestor.

Goldwurm S, Di Fonzo A, Simons EJ, Rohé CF, Zini M, Canesi M, Tesei S, Zecchinelli A, Antonini A, Mariani C, Meucci N, Sacilotto G, Sironi F, Salani G, Ferreira J, Chien HF, Fabrizio E, Vanacore N, Dalla Libera A, Stocchi F, Diroma C, Lamberti P, Sampaio C, Meco G, Barbosa E, Bertoli-Avella AM, Breedveld GJ, Oostra BA, Pezzoli G, Bonifati V.

J Med Genet. 2005 Nov - 30/09/2005

Italian Parkinson Genetics Network. A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson’s disease.

Di Fonzo A, Rohé CF, Ferreira J, Chien HF, Vacca L, Stocchi F, Guedes L, Fabrizio E, Manfredi M, Vanacore N, Goldwurm S, Breedveld G, Sampaio C, Meco G, Barbosa E, Oostra BA, Bonifati V.

Lancet. 2005 Jan 29-Feb 4 - 29/01/2005

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