Search Results - Franco Taroni
- Showing 1 - 20 results of 47
- Go to Next Page
-
1
Frataxin, Iron–Sulfur Clusters, Heme, ROS, and Aging by Eleonora Napoli, Franco Taroni, Gino Cortopassi
Published 2006Artigo -
2
-
3
-
4
-
5
-
6
-
7
-
8
-
9
-
10
-
11
-
12
Screening for <i>SH3TC2</i> gene mutations in a series of demyelinating recessive Charcot‐Marie‐Tooth disease (CMT4) by Giuseppe Piscosquito, Paola Saveri, Stefania Magri, José Berciano, Claudia Gandioli, Michela Morbin, Daniela Di Bella, Isabella Moroni, Franco Taroni, Davide Pareyson
Published 2016Artigo -
13
Evaluation of Forensic DNA Traces When Propositions of Interest Relate to Activities: Analysis and Discussion of Recurrent Concerns by Alex Biedermann, Christophe Champod, Graham Jackson, Peter Gill, Duncan Taylor, John M. Butler, Niels Morling, Tacha Hicks, Joëlle Vuille, Franco Taroni
Published 2016Revisão -
14
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2 by Claudia Cagnoli, Caterina Mariotti, Franco Taroni, Marco Seri, Alessandro Brussino, Chiara Michielotto, Marina Grisoli, Daniela Di Bella, Nicola Migone, Cinzia Gellera, Stefano Di Donato, Alfredo Brusco
Published 2005Artigo -
15
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells by Robert Schoenfeld, Eleonora Napoli, Alice Wong, Shan Shan Zhan, Laurence Reutenauer, Dexter Morin, Alan R. Buckpitt, Franco Taroni, Bo Lönnerdal, Michael Ristow, Hélène Puccio, Gino Cortopassi
Published 2005Artigo -
16
Concurrent <i>AFG3L2</i> and <i>SPG7</i> mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation by Stefania Magri, Valentina Fracasso, Massimo Plumari, Enrico Alfei, Daniele Ghezzi, Cinzia Gellera, P. Rusmini, Angelo Poletti, Daniela Di Bella, Antonio E. Elia, Chiara Pantaleoni, Franco Taroni
Published 2018Artigo -
17
Subclinical leukodystrophy and infertility in a man with a novel homozygous <i>CLCN2</i> mutation by Daniela Di Bella, Davide Pareyson, M. Savoiardo, Laura Farina, José Berciano, Serena Caldarazzo, Anna Sagnelli, Sara Bonato, Simone Nava, Nereo Bresolin, Gioacchino Tedeschi, Franco Taroni, Ettore Salsano
Published 2014Artigo -
18
High frequency of<i>TARDBP</i>gene mutations in Italian patients with amyotrophic lateral sclerosis by Lucia Corrado, Antonia Ratti, Cinzia Gellera, Emanuele Buratti, Barbara Castellotti, Yari Carlomagno, Nicola Ticozzi, Letizia Mazzini, Lucia Testa, Franco Taroni, Francisco E. Baralle, Vincenzo Silani, Sandra D’Alfonso
Published 2009Artigo -
19
Analysis of <i>FUS</i> gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort by Nicola Ticozzi, Vincenzo Silani, A. L. LeClerc, Pamela Keagle, Cinzia Gellera, Antonia Ratti, Franco Taroni, Thomas J. Kwiatkowski, D. McKenna‐Yasek, Peter C. Sapp, Robert H. Brown, John E. Landers
Published 2009Artigo -
20
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48 by Stefania Magri, Lorenzo Nanetti, Cinzia Gellera, Elisa Sarto, Elena Rizzo, Alessia Mongelli, Benedetta Ricci, Roberto Fancellu, Luisa Sambati, Pietro Cortelli, Alfredo Brusco, Maria Grazia Bruzzone, Caterina Mariotti, Daniela Di Bella, Franco Taroni
Published 2021Artigo
Search Tools:
Related Subjects
Biology
Genetics
Gene
Medicine
Disease
Internal medicine
Mutation
Pathology
Missense mutation
Amyotrophic lateral sclerosis
Biochemistry
Neuroscience
Allele
Phenotype
Ataxia
Genotype
Age of onset
Cell biology
Frataxin
Mitochondrion
Pediatrics
Psychology
Spinocerebellar ataxia
Aconitase
Chemistry
Compound heterozygosity
Exon
Molecular biology
Trinucleotide repeat expansion
Cerebellar ataxia