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Member - Telethon - Italy

Telethon's mission is to foster and promote basic or clinical research aimed at curing genetic diseases. The selection of the best research projects, the funding of dedicated researchers, the foundation and maintenance of its research institutes, make Telethon a point of Italian excellence in the world.

http://www.telethon.it/

Research staff and students at Telethon - Italy:

Do you realize that you can now publish in journals published by BioMed Central without directly paying any article-processing charges? Payment of your article-processing charges is covered by Telethon - Italy's Prepay Membership. Read more information about publishing your articles with us.

Work published with BioMed Central, Chemistry Central and SpringerOpen by researchers at Telethon - Italy

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	1.	Research Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases Mirella Filocamo, Chiara Baldo, Stefano Goldwurm, Alessandra Renieri, Corrado Angelini, Maurizio Moggio, Marina Mora, Giuseppe Merla, Luisa Politano, Barbara Garavaglia, Lorena Casareto, Francesca Bricarelli, Orphanet Journal of Rare Diseases 2013, 8:129 (30 August 2013) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary Describing a unique genetic biobanking system in an investigator-oriented approach, this article provides a framework for the potential internationalisation of biobanking.
	2.	Letter to the Editor Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones Marco Cammisa, Antonella Correra, Giuseppina Andreotti, Maria Cubellis Orphanet Journal of Rare Diseases 2013, 8:111 (24 July 2013) Abstract \| Full text \| PDF \| PubMed
	3.	Research Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study Maurizio Ferrarin, Tiziana Lencioni, Marco Rabuffetti, Isabella Moroni, Emanuela Pagliano, Davide Pareyson Journal of NeuroEngineering and Rehabilitation 2013, 10:65 (2 July 2013) Abstract \| Full text \| PDF \| PubMed
	4.	Research article Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways Cecilia Mancini, Paola Roncaglia, Alessandro Brussino, Giovanni Stevanin, Nicola Lo Buono, Helena Krmac, Francesca Maltecca, Elena Gazzano, Anna Bartoletti Stella, Maria Calvaruso, Luisa Iommarini, Claudia Cagnoli, Sylvie Forlani, Isabelle Le Ber, Alexandra Durr, Alexis Brice, Dario Ghigo, Giorgio Casari, Anna Porcelli, Ada Funaro, Giuseppe Gasparre, Stefano Gustincich, Alfredo Brusco BMC Medical Genomics 2013, 6:22 (18 June 2013) Abstract \| Full text \| PDF \| PubMed
	5.	Research article **In vivo and in silico analysis of PCNA ubiquitylation in the activation of the Post Replication Repair pathway in S. cerevisiae** Flavio Amara, Riccardo Colombo, Paolo Cazzaniga, Dario Pescini, Attila Csikász-Nagy, Marco Falconi, Daniela Besozzi, Paolo Plevani BMC Systems Biology 2013, 7:24 (20 March 2013) Abstract \| Full text \| PDF \| PubMed
	6.	Research The 3.5 ångström X−ray structure of the human connexin26 gap junction channel is unlikely that of a fully open channel Francesco Zonta, Guido Polles, Maria Sanasi, Mario Bortolozzi, Fabio Mammano Cell Communication and Signaling 2013, 11:15 (27 February 2013) Abstract \| Full text \| PDF \| PubMed
	7.	Research *The ADAMTS18* gene is responsible for autosomal recessive early onset severe retinal dystrophy** Ivana Peluso, Ivan Conte, Francesco Testa, Gopuraja Dharmalingam, Mariateresa Pizzo, Rob WJ Collin, Nicola Meola, Sara Barbato, Margherita Mutarelli, Carmela Ziviello, Anna Maria Barbarulo, Vincenzo Nigro, Mariarosa AB Melone, Francesca Simonelli, Sandro Banfi Orphanet Journal of Rare Diseases 2013, 8:16 (28 January 2013) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	8.	Meeting abstract Fighting for the cures of rare genetic diseases: worthy ideas and promising results demand for strategic research management and for integration of competences and efforts Francesca Sofia Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A21 (22 November 2012) Full text \| PDF
	9.	Research article Functional crosstalk in culture between macrophages and trigeminal sensory neurons of a mouse genetic model of migraine Alessia Franceschini, Asha Nair, Tanja Bele, Arn MJM van den Maagdenberg, Andrea Nistri, Elsa Fabbretti BMC Neuroscience 2012, 13:143 (21 November 2012) Abstract \| Full text \| PDF \| PubMed
	10.	Research Capsid protein expression and adeno-associated virus like particles assembly in Saccharomyces cerevisiae Ana Backovic, Tiziana Cervelli, Alessandra Salvetti, Lorena Zentilin, Mauro Giacca, Alvaro Galli Microbial Cell Factories 2012, 11:124 (11 September 2012) Abstract \| Full text \| PDF \| PubMed
	11.	Research Sphingosine kinase/sphingosine 1-phosphate axis: a new player for insulin-like growth factor-1-induced myoblast differentiation Caterina Bernacchioni, Francesca Cencetti, Sabrina Blescia, Chiara Donati, Paola Bruni Skeletal Muscle 2012, 2:15 (12 July 2012) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	12.	Research Respiratory function of people with amyotrophic lateral sclerosis and caregiver distress level: a correlational study Francesco Pagnini, Paolo Banfi, Christian Lunetta, Gabriella Rossi, Gianluca Castelnuovo, Anna Marconi, Federica Fossati, Massimo Corbo, Enrico Molinari BioPsychoSocial Medicine 2012, 6:14 (21 June 2012) Abstract \| Full text \| PDF \| PubMed
	13.	Research *Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2* mutations** Alberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, Roberta Siviero, Cristina Cerqua, Mara Doimo, Giuseppe Basso, Sabrina Sacconi, Matteo Cassina, Rosario Rizzuto, Sonja Brosel, Mercy M Davidson, Salvatore DiMauro, Eric A Schon, Maurizio Clementi, Eva Trevisson, Leonardo Salviati Orphanet Journal of Rare Diseases 2012, 7:21 (19 April 2012) Abstract \| Full text \| PDF \| PubMed
	14.	Short report Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes Cecilia Mancini, Erika Messana, Emilia Turco, Alessandro Brussino, Alfredo Brusco Biological Procedures Online 2011, 13:10 (28 October 2011) Abstract \| Full text \| PDF \| PubMed
	15.	Research Lipid rafts control P2X3 receptor distribution and function in trigeminal sensory neurons of a transgenic migraine mouse model Aswini Gnanasekaran, Mayya Sundukova, Arn MJM van den Maagdenberg, Elsa Fabbretti, Andrea Nistri Molecular Pain 2011, 7:77 (29 September 2011) Abstract \| Full text \| PDF \| PubMed
	16.	Research Chromatin regulated interchange between polycomb repressive complex 2 (PRC2)-Ezh2 and PRC2-Ezh1 complexes controls myogenin activation in skeletal muscle cells Lovorka Stojic, Zuzana Jasencakova, Carolina Prezioso, Alexandra Stützer, Beatrice Bodega, Diego Pasini, Rebecca Klingberg, Chiara Mozzetta, Raphael Margueron, Pier Puri, Dirk Schwarzer, Kristian Helin, Wolfgang Fischle, Valerio Orlando Epigenetics & Chromatin 2011, 4:16 (5 September 2011) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	17.	Research article *Serotonin transporter (SERT) and translocator protein (TSPO) expression in the obese ob/ob* mouse** Gino Giannaccini, Laura Betti, Lionella Palego, Andrea Pirone, Lara Schmid, Mario Lanza, Laura Fabbrini, Caterina Pelosini, Margherita Maffei, Ferruccio Santini, Aldo Pinchera, Antonio Lucacchini BMC Neuroscience 2011, 12:18 (7 February 2011) Abstract \| Full text \| PDF \| PubMed
	18.	Research article The obesity and inflammatory marker haptoglobin attracts monocytes via interaction with chemokine (C-C motif) receptor 2 (CCR2) Margherita Maffei, Marcella Funicello, Teresa Vottari, Olimpia Gamucci, Mario Costa, Simonetta Lisi, Alessandro Viegi, Osele Ciampi, Giuseppe Bardi, Paolo Vitti, Aldo Pinchera, Ferruccio Santini BMC Biology 2009, 7:87 (17 December 2009) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Haptoglobin, a protein induced by obesity, attracts monocytes through an interaction with the chemokine receptor CCR2, and could therefore mediate the infiltration of these inflammatory cells into adipose tissue where haptoglobulin is upregulated.