Use of centrifuged and preserved microalgae for feeding juvenile Manila clam (Tapes philippinarum): effects on growth and fatty acid composition

Autor: Pier Paolo Gatta, Attilio Luigi Mordenti, Giovanni Corso, Silvia Testi, Anna Badiani, Alessio Bonaldo

Publikováno v: Italian Journal of Animal Science, Vol 4, Iss 4, Pp 375-384 (2010)

The objective of the present study was to assess the nutritional value of three diets containing commercial preserved microalgae pastes and the relationship of their biochemical composition to the growth rate and fatty acids profile of juve- nile T

Externí odkaz: https://doaj.org/article/4ce4c59f7515485b91365a5e388f7116

RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy

Autor: Silvia Testi, Sergio Ferrari, Tiziana Cavallaro, Davide Cardellini, Moreno Ferrarini, Salvatore Monaco, Gian Maria Fabrizi, Matteo Tagliapietra

Publikováno v: Journal of Neurology

Background A biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 (RFC1) gene has been recently associated with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome, a disorder often presenting as a slowly evolving

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da872597564c9c582c7f02eed0561446
https://pubmed.ncbi.nlm.nih.gov/33884451

Clinical and pathological characterization of RFC1 AAGGG expansion presenting as chronic axonal polyneuropathy

Autor: Sergio Ferrari, Davide Cardellini, Moreno Ferrarini, Gian Maria Fabrizi, Tiziana Cavallaro, Matteo Tagliapietra, Silvia Testi, Salvatore Monaco

Publikováno v: Journal of the Neurological Sciences. 429:117739

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f543bec630f3037a805d385bb4dfb932
https://doi.org/10.1016/j.jns.2021.117739

Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags

Autor: Federica Taioli, Marta Ruiz, Alessandro Salvalaggio, Roberto Gasparotti, Francesca Castellani, Mario Cacciavillani, Gian Maria Fabrizi, Marta Campagnolo, Silvia Testi, Tiziana Cavallaro, Chiara Briani, Moreno Ferrarini, M Luigetti

Publikováno v: Journal of the peripheral nervous system : JPNSREFERENCES. 25(1)

Hereditary neuropathies may be misdiagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). A correct diagnosis is crucial for avoiding unnecessary therapies and access genetic counseling. We report on nine patients (seven men,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c198d5eb5021f370be6ec889d46a0d3
https://pubmed.ncbi.nlm.nih.gov/31919945

TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

Autor: Isabel Santana, Estrella Gómez-Tortosa, Federica Perrone, Patrick Cras, Alexandre de Mendonça, Jonathan Baets, Panagiotis Alexopoulos, Peter De Jonghe, Alessandro Padovani, Giovanni B. Frisoni, Frederico Simões do Couto, Håkan Thonberg, Philip Van Damme, Silvia Testi, Peter Paul De Deyn, Roberta Ghidoni, Matthew J. Fraidakis, Marc Bruyland, Maria Rosário Almeida, Alex Michotte, Jordi Clarimón, Agustín Ruiz, Jean Delbeck, Ilse Gijselinck, Jennifer Just, Olivier Deryck, Raquel Sánchez-Valle, Wim Robberecht, Matthis Synofzik, Giuliano Binetti, Adrian Ivanoiu, Sara Ortega-Cubero, Rik Vandenberghe, Isabel Hernández, Walter Maetzler, Ludger Schöls, Robert Perneczky, Kristel Sleegers, Ellen Gelpi, Alberto Lleó, Christine Van Broeckhoven, Julie van der Zee, Mercè Boada, Lubina Dillen, Eric Salmon, Marc Cruts, Patrick Santens, Sebastiaan Engelborghs, Janine Diehl-Schmid, Albert Lladó, Gian Maria Fabrizi, Radoslav Matej, Silvia Bagnoli, Pau Pastor, Frank Jessen, Barbara Borroni, Dirk Nuytten, Adrian Danek, Jan Versijpt, Bavo Heeman, Stayko Sarafov, Caroline Graff, Benedetta Nacmias, Luisa Benussi, Bart Dermaut, Johan Goeman, Michael T. Heneka, Katrien Smets, Gabor G. Kovacs, Christiana Willems, Sara Van Mossevelde, Albena Jordanova, Jan De Bleecker, Ricardo Rojas-García, Alfredo Ramirez, Bruno Bergmans, Ivailo Tournev, Veerle Bäumer, Gabriel Miltenberger-Miltenyi, Sandro Sorbi

Publikováno v: Human Mutation, Vol. 38, No 3 (2017) pp. 297-309
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HUMAN MUTATION
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Human Mutation
Human mutation
Human mutation 38(3), 297-309 (2017). doi:10.1002/humu.23161

© 2016 The Authors. **Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::109e18977c1b5c191638868beaace792
http://hdl.handle.net/10044/1/45933