Výsledky vyhledávání - Davide Pareyson
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Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation Autor Laura Canafoglia, Michela Morbin, V. Scaioli, Davide Pareyson, Ludovico D’Incerti, Valeria Fugnanesi, Fabrizio Tagliavini, Samuel F. Berkovic, Silvana Franceschetti
Vydáno 2014Artigo -
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Screening for <i>SH3TC2</i> gene mutations in a series of demyelinating recessive Charcot‐Marie‐Tooth disease (CMT4) Autor Giuseppe Piscosquito, Paola Saveri, Stefania Magri, José Berciano, Claudia Gandioli, Michela Morbin, Daniela Di Bella, Isabella Moroni, Franco Taroni, Davide Pareyson
Vydáno 2016Artigo -
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Gait pattern classification in children with Charcot–Marie–Tooth disease type 1A Autor Maurizio Ferrarin, Gabriele Bovi, Marco Rabuffetti, P. Mazzoleni, A. Montesano, Emanuela Pagliano, Alessia Marchi, Anita Magro, Chiara Marchesi, Davide Pareyson, Isabella Moroni
Vydáno 2011Artigo -
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A slowly progressive mitochondrial encephalomyopathy widens the spectrum of <i>AIFM1</i> disorders Autor Anna Ardissone, Giuseppe Piscosquito, Andrea Legati, Tiziana Langella, Eleonora Lamantea, Barbara Garavaglia, Ettore Salsano, Laura Farina, Isabella Moroni, Davide Pareyson, Daniele Ghezzi
Vydáno 2015Artigo -
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The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage Autor Anna Ambrosini, Daniela Calabrese, Francesco Maria Avato, Felice Catania, Guido Cavaletti, Maria Carmela Pera, António Toscano, Giuseppe Vita, Lucía Monaco, Davide Pareyson
Vydáno 2018Artigo -
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Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts Autor Anne Polvi, Tarja Linnankivi, Tero Kivelä, Riitta Herva, James Keating, Outi Mäkitie, Davide Pareyson, Leena Vainionpää, Jenni Lahtinen, Iiris Hovatta, Helena Pihko, Anna-Elina Lehesjoki
Vydáno 2012Artigo -
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Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature Autor Davide Pareyson, Roberto Fancellu, Caterina Mariotti, Silvia Romano, Andrea Salmaggi, F. Carella, F Girotti, G. Gattellaro, Maria Rita Carriero, Laura Farina, Isabella Ceccherini, M. Savoiardo
Vydáno 2008Revisão -
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Subclinical leukodystrophy and infertility in a man with a novel homozygous <i>CLCN2</i> mutation Autor 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
Vydáno 2014Artigo -
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Psychometrics evaluation of Charcot‐Marie‐Tooth Neuropathy Score (<scp>CMTNSv2</scp>) second version, using Rasch analysis Autor Reza Sadjadi, Mary M. Reilly, Michael E. Shy, Davide Pareyson, Matilde Laurá, Sinéad M. Murphy, Shawna Feely, Tiffany Grider, Chelsea Bacon, Giuseppe Piscosquito, Daniela Calabrese, Ted M. Burns
Vydáno 2014Artigo -
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Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability Autor Joshua Burns, Robert Ouvrier, Tim Estilow, Rosemary Shy, Matilde Laurá, Julie Pallant, Monkol Lek, Francesco Muntoni, Mary M. Reilly, Davide Pareyson, Gyula Acsádi, Michael E. Shy, Richard S. Finkel
Vydáno 2012Artigo
Vyhledávací nástroje:
Související témata
Medicine
Internal medicine
Biology
Genetics
Disease
Gene
Pathology
Mutation
Physical therapy
Surgery
Missense mutation
Pediatrics
Neuroscience
Phenotype
Tooth disease
Psychology
Age of onset
Clinical trial
Endocrinology
Natural history
Psychiatry
Allele
Compound heterozygosity
Diabetes mellitus
Genotype
Nursing
Quality of life (healthcare)
Alternative medicine
Amyloidosis
Anatomy