Literature DB >> 24922300

The Italian National Centre for Rare Diseases: where research and public health translate into action.

Domenica Taruscio1, Linda Agresta1, Annalisa Amato1, Giuseppe Bernardo1, Luana Bernardo1, Francesca Braguti1, Pietro Carbone1, Claudio Carta1, Marina Ceccarini1, Federica Censi1, Simona Coppola1, Patrizia Crialese1, Marta De Santis1, Stefano Diemoz1, Carlo Donati1, Sabina Gainotti1, Gianluca Ferrari1, Giovanna Floridia1, Claudio Frank1, Rosa Giuseppa Frazzica1, Amalia E Gentile1, Orietta Granata1, Yllka Kodra1, Manuela Latrofa1, Paola Laricchiuta1, Armando Magrelli1, Cristina Morciano1, Agata Polizzi1, Stefania Razeto1, Marco Salvatore1, Antonella Sanseverino1, Daniele Savini1, Paola Torreri1, Fabrizio Tosto1, Flavia Villani1, Giorgio Vincenti1, Luciano Vittozzi1.   

Abstract

Mesh:

Year:  2014        PMID: 24922300      PMCID: PMC4044801          DOI: 10.2450/2014.0040-14s

Source DB:  PubMed          Journal:  Blood Transfus        ISSN: 1723-2007            Impact factor:   3.443


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  26 in total

1.  EQUAL-qual: a European program for external quality assessment of genomic DNA extraction and PCR amplification.

Authors:  Claudio Orlando; Paolo Verderio; Ronald Maatman; Jan Danneberg; Simon Ramsden; Michael Neumaier; Domenica Taruscio; Vincenzo Falbo; Robert Jansen; Claudia Casini-Raggi; Francesca Malentacchi; Ettore Marubini; Sara Pizzamiglio; Kris Vernelen; Jean-Claude Libeer; Vladimir Palicka; Mario Pazzagli
Journal:  Clin Chem       Date:  2007-07       Impact factor: 8.327

2.  The Italian external quality assessment scheme in classical cytogenetics: four years of activity.

Authors:  G Floridia; V Falbo; F Censi; F Tosto; M Salvatore; A Baroncini; P Battaglia; A Conti; E Donti; R La Starza; L Nitsch; M Pierluigi; G Piombo; F Susca; M Mancini; C Mecucci; E Calzolari; F Dagna Bricarelli; G Guanti; D Taruscio
Journal:  Community Genet       Date:  2008-05-20

3.  Phosphorylation on threonine 11 of β-dystrobrevin alters its interaction with kinesin heavy chain.

Authors:  Federica Fratini; Gianfranco Macchia; Paola Torreri; Andrea Matteucci; Anna Maria Salzano; Marco Crescenzi; Pompeo Macioce; Tamara C Petrucci; Marina Ceccarini
Journal:  FEBS J       Date:  2012-10-11       Impact factor: 5.542

4.  The current situation and needs of rare disease registries in Europe.

Authors:  D Taruscio; S Gainotti; E Mollo; L Vittozzi; F Bianchi; M Ensini; M Posada
Journal:  Public Health Genomics       Date:  2014-02-03       Impact factor: 2.000

5.  A model for the European platform for rare disease registries.

Authors:  L Vittozzi; S Gainotti; E Mollo; C Donati; D Taruscio
Journal:  Public Health Genomics       Date:  2014-02-03       Impact factor: 2.000

6.  Glutamatergic neurotransmission in a mouse model of Niemann-Pick type C disease.

Authors:  Giovanna D'Arcangelo; Daniele Grossi; Giovanna De Chiara; Maria Chiara de Stefano; Giancarlo Cortese; Gennaro Citro; Stefano Rufini; Virginia Tancredi; Daniela Merlo; Claudio Frank
Journal:  Brain Res       Date:  2011-04-19       Impact factor: 3.252

Review 7.  Folic acid and primary prevention of birth defects.

Authors:  Domenica Taruscio; Pietro Carbone; Orietta Granata; Francesca Baldi; Alberto Mantovani
Journal:  Biofactors       Date:  2011 Jul-Aug       Impact factor: 6.113

8.  Developmental expression of dysbindin in Muller cells of rat retina.

Authors:  Andrea Matteucci; Lucia Gaddini; Gianfranco Macchia; Monica Varano; Tamara C Petrucci; Pompeo Macioce; Fiorella Malchiodi-Albedi; Marina Ceccarini
Journal:  Exp Eye Res       Date:  2013-08-14       Impact factor: 3.467

Review 9.  Physiological measurements confirming the diagnosis of cystic fibrosis: the sweat test and measurements of transepithelial potential difference.

Authors:  C J Taylor; J Hardcastle; K W Southern
Journal:  Paediatr Respir Rev       Date:  2009-10-03       Impact factor: 2.726

10.  Autocrine role of angiopoietins during megakaryocytic differentiation.

Authors:  Ernestina Saulle; Raffaella Guerriero; Alessia Petronelli; Elena Coppotelli; Marco Gabbianelli; Ornella Morsilli; Isabella Spinello; Elvira Pelosi; Germana Castelli; Ugo Testa; Simona Coppola
Journal:  PLoS One       Date:  2012-07-06       Impact factor: 3.240

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  2 in total

1.  Haemophilia Centre Certification Systems: optional or optimal choice for healthcare systems?

Authors:  Gabriele Calizzani; Michael Makris; Pier Mannuccio Mannucci; Domenica Taruscio; Giuliano Grazzini; Fabrizio Oleari
Journal:  Blood Transfus       Date:  2014-04       Impact factor: 3.443

2.  The Italian institutional accreditation model for Haemophilia Centres.

Authors:  Gabriele Calizzani; Fabio Candura; Ivana Menichini; Romano Arcieri; Giancarlo Castaman; Alessandro Lamanna; Maria R Tamburrini; Antonio Fortino; Monica Lanzoni; Samantha Profili; Simonetta Pupella; Giancarlo M Liumbruno; Giuliano Grazzini
Journal:  Blood Transfus       Date:  2014-04       Impact factor: 3.443

  2 in total

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