Canlyniadau Chwilio - Franco Taroni
- Dangos 1 - 20 canlyniadau o 47
- Ewch i'r Dudalen Nesaf
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Frataxin, Iron–Sulfur Clusters, Heme, ROS, and Aging gan Eleonora Napoli, Franco Taroni, Gino Cortopassi
Cyhoeddwyd 2006Artigo -
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Screening for <i>SH3TC2</i> gene mutations in a series of demyelinating recessive Charcot‐Marie‐Tooth disease (CMT4) gan Giuseppe Piscosquito, Paola Saveri, Stefania Magri, José Berciano, Claudia Gandioli, Michela Morbin, Daniela Di Bella, Isabella Moroni, Franco Taroni, Davide Pareyson
Cyhoeddwyd 2016Artigo -
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Evaluation of Forensic DNA Traces When Propositions of Interest Relate to Activities: Analysis and Discussion of Recurrent Concerns gan Alex Biedermann, Christophe Champod, Graham Jackson, Peter Gill, Duncan Taylor, John M. Butler, Niels Morling, Tacha Hicks, Joëlle Vuille, Franco Taroni
Cyhoeddwyd 2016Revisão -
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SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2 gan 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
Cyhoeddwyd 2005Artigo -
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Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells gan 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
Cyhoeddwyd 2005Artigo -
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Concurrent <i>AFG3L2</i> and <i>SPG7</i> mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation gan 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
Cyhoeddwyd 2018Artigo -
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Subclinical leukodystrophy and infertility in a man with a novel homozygous <i>CLCN2</i> mutation gan 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
Cyhoeddwyd 2014Artigo -
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High frequency of<i>TARDBP</i>gene mutations in Italian patients with amyotrophic lateral sclerosis gan 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
Cyhoeddwyd 2009Artigo -
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Analysis of <i>FUS</i> gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort gan 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
Cyhoeddwyd 2009Artigo -
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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48 gan 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
Cyhoeddwyd 2021Artigo
Offerynnau Chwilio:
Pynciau Perthynol
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