Franco Taroni
Franco Taroni
Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
CH Wu, C Fallini, N Ticozzi, PJ Keagle, PC Sapp, K Piotrowska, P Lowe, ...
Nature 488 (7412), 499-503, 2012
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis
J Yang, P Cavadini, C Gellera, B Lonnerdal, F Taroni, G Cortopassi
Human molecular genetics 8 (3), 425-430, 1999
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
BN Smith, N Ticozzi, C Fallini, AS Gkazi, S Topp, KP Kenna, EL Scotter, ...
Neuron 84 (2), 324-331, 2014
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
D Di Bella, F Lazzaro, A Brusco, M Plumari, G Battaglia, A Pastore, ...
Nature genetics 42 (4), 313-321, 2010
Pathways to motor incoordination: the inherited ataxias
F Taroni, S DiDonato
Nature Reviews Neuroscience 5 (8), 641-655, 2004
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi, BJ Kenna, ...
Nature genetics 48 (9), 1037-1042, 2016
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis
L Corrado, A Ratti, C Gellera, E Buratti, B Castellotti, Y Carlomagno, ...
Human mutation 30 (4), 688-694, 2009
The C9ORF72 expansion mutation is a common cause of ALS+/− FTD in Europe and has a single founder
BN Smith, S Newhouse, A Shatunov, C Vance, S Topp, L Johnson, ...
European Journal of Human Genetics 21 (1), 102-108, 2013
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients
F Taroni, E Verderio, F Dworzak, PJ Willems, P Cavadini, S DiDonato
Nature genetics 4 (3), 314-320, 1993
Alpha-lipoic acid prevents mitochondrial damage and neurotoxicity in experimental chemotherapy neuropathy
G Melli, M Taiana, F Camozzi, D Triolo, P Podini, A Quattrini, F Taroni, ...
Experimental neurology 214 (2), 276-284, 2008
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families
A Brusco, C Gellera, C Cagnoli, A Saluto, A Castucci, C Michielotto, ...
Archives of neurology 61 (5), 727-733, 2004
cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.
G Finocchiaro, F Taroni, M Rocchi, AL Martin, I Colombo, GT Tarelli, ...
Proceedings of the National Academy of Sciences 88 (2), 661-665, 1991
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.
F Taroni, E Verderio, S Fiorucci, P Cavadini, G Finocchiaro, G Uziel, ...
Proceedings of the National Academy of Sciences 89 (18), 8429-8433, 1992
Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort
N Ticozzi, V Silani, AL LeClerc, P Keagle, C Gellera, A Ratti, F Taroni, ...
Neurology 73 (15), 1180-1185, 2009
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11. 22–q11. 2
C Cagnoli, C Mariotti, F Taroni, M Seri, A Brussino, C Michielotto, ...
Brain 129 (1), 235-242, 2006
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias
A Matilla-Dueñas, T Ashizawa, A Brice, S Magri, KN McFarland, ...
The Cerebellum 13, 269-302, 2014
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia
A Campanella, E Rovelli, P Santambrogio, A Cozzi, F Taroni, S Levi
Human molecular genetics 18 (1), 1-11, 2009
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48
V Pensato, B Castellotti, C Gellera, D Pareyson, C Ciano, L Nanetti, ...
Brain 137 (7), 1907-1920, 2014
Two-step processing of human frataxin by mitochondrial processing peptidase: precursor and intermediate forms are cleaved at different rates
P Cavadini, J Adamec, F Taroni, O Gakh, G Isaya
Journal of Biological Chemistry 275 (52), 41469-41475, 2000
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