Search Results - Maja Di Rocco

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  1. 1
    Mucopolysaccharidoses: early diagnostic signs in infants and children

    Mucopolysaccharidoses: early diagnostic signs in infants and children by Cinzia Galimberti, Annalisa Madeo, Maja Di Rocco, Agata Fiumara

    Published 2018
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  2. 2
    Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.

    Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. by E. Natt, Kaichi Kida, M Odièvre, Maja Di Rocco, Gerd Scherer

    Published 1992
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  3. 3
    Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements

    Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements by Renata Bocciardi, Domenico Bordo, Marco Di Duca, Maja Di Rocco, Roberto Ravazzolo

    Published 2008
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  4. 4
    Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis

    Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis by Mariarosaria Donnarumma, Stefano Regis, Barbara Tappino, Camillo Rosano, Stefania Assereto, Fabio Corsolini, Maja Di Rocco, Mirella Filocamo

    Published 2007
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  5. 5
    The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a

    The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a by Paola Feraco, Marisol Mirabelli-Badenier, Mariasavina Severino, M. G. Alpigiani, Maja Di Rocco, Roberta Biancheri, Andrea Rossi

    Published 2012
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  6. 6
    Open issues in Mucopolysaccharidosis type I-Hurler

    Open issues in Mucopolysaccharidosis type I-Hurler by Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa

    Published 2017
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  7. 7
    A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease

    A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease by Maja Di Rocco, Fiorina Giona, Francesca Carubbi, Silvia Linari, Fabrizio Minichilli, Brady Ro, Giuliano Mariani, Maria Domenica Cappellini

    Published 2008
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  8. 8
    Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes

    Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes by Nathalie Dagoneau, Samuel Bellais, Patricia Blanchet, P. Sardá, L.I. Al-Gazali, Maja Di Rocco, Céline Huber, Fatima Djouadi, Carine Le Goff, Arnold Münnich, Valérie Cormier‐Daire

    Published 2007
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  9. 9
    Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

    Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease by Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, D.N. Cooper, Mirella Filocamo

    Published 2010
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  10. 10
    ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant

    ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant by Julia Haupt, Alexandra Deichsel, Katja Stange, Cindy Ast, Renata Bocciardi, Roberto Ravazzolo, Maja Di Rocco, Paola Ferrari, Antonio Landi, Frederick S. Kaplan, Eileen M. Shore, Carsten Reißner, Petra Seemann

    Published 2014
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  11. 11
    Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

    Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception by Deborah Chiabrando, Marco Castori, Maja Di Rocco, Martin Ungelenk, Sebastian Gießelmann, M. Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A. Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth

    Published 2016
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  12. 12
    Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe

    Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe by Nadia Belmatoug, Maja Di Rocco, Cristina Fraga, Pilar Giraldo, Derralynn Hughes, Elena Lukina, Pierre Maison‐Blanche, Martin Merkel, Claus Niederau, Ursula Plöckinger, Johan Richter, Thomas M. Stulnig, Stephan vom Dahl, Timothy M. Cox

    Published 2016
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  13. 13
    International physician survey on management of FOP: a modified Delphi study

    International physician survey on management of FOP: a modified Delphi study by Maja Di Rocco, Geneviève Baujat, Marta Bertamino, Matthew A. Brown, Carmen L. De Cunto, Patricia Delai, Elisabeth M. W. Eekhoff, Nobuhiko Haga, Edward C. Hsiao, Richard Keen, Rolf Morhart, Robert J. Pignolo, Frederick S. Kaplan

    Published 2017
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  14. 14
    Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

    Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome by Sander M. Houten, Janet Koster, Gerrit-Jan Romeijn, Joost Frenkel, Maja Di Rocco, Ubaldo Caruso, P. Landrieu, Richard I. Kelley, Wietse Kuis, Bwee Tien Poll‐The, K. Michael Gibson, Ronald J. A. Wanders, Hans R. Waterham

    Published 2001
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  15. 15
    Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

    Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes by Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim‐Hanh Le Quan Sang, Amy C. Wilson, Barbara S. White, Donna R. Grogan, Frederick S. Kaplan

    Published 2019
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  16. 16
    Clinical Features of Lysosomal Acid Lipase Deficiency

    Clinical Features of Lysosomal Acid Lipase Deficiency by Barbara K. Burton, Patrick Deegan, Gregory M. Enns, Ornella Guardamagna, Simon Horslen, Gerard K Hovingh, Steve Lobritto, Vĕra Malinová, Valérie A. McLin, Julian Raiman, Maja Di Rocco, Saikat Santra, Reena Sharma, Jolanta Sykut‐Cegielska, Chester B. Whitley, Stephen Eckert, Vassili Valayannopoulos, Anthony G. Quinn

    Published 2015
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  17. 17
    Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians

    Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians by Atul Mehta, Nadia Belmatoug, Bruno Bembi, Patrick Deegan, Deborah Elstein, Özlem Göker-Alpan, Elena Lukina, Eugen Mengel, Kimitoshi Nakamura, Gregory M. Pastores, Jordi Pérez‐López, Ida Vanessa Döederlein Schwartz, J. Serratrice, Jeff Szer, Ari Zimran, Maja Di Rocco, Zoya Panahloo, David J. Kuter, Derralynn Hughes

    Published 2017
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  18. 18
    Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

    Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy by Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada, Roberta Taurisano, Maria Grazia Valsecchi, Maja Di Rocco, Bruno Bembi

    Published 2018
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  19. 19
    IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles

    IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles by Francesca Bertola, Mirella Filocamo, Giorgio Casati, Matthew Mort, Camillo Rosano, Anna Tylki‐Szymańska, Beyhan Tüysüz, Orazio Gabrielli, Serena Grossi, Maurizio Scarpa, Giancarlo Parenti, Daniela Antuzzi, Jaime Dalmau, Maja Di Rocco, Carlo Dionisi‐Vici, İlyas Okur, Jordi Rosell, Attilio Rovelli, Francesca Furlan, Miriam Rigoldi, Andrea Biondi, D.N. Cooper, Rossella Parini

    Published 2011
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  20. 20
    Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

    Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome by Nathalie Dagoneau, Déborah Scheffer, Céline Huber, L.I. Al-Gazali, Maja Di Rocco, Anne Godard, Jéléna Martinovic, Annick Raas‐Rothschild, Sabine Sigaudy, Sheila Unger, Sophie Nicole, Bertrand Fontaine, Jean‐Luc Taupin, Jean-François Moreau, Andrea Superti‐Furga, Martine Le Merrer, Jacky Bonaventure, Arnold Münnich, Laurence Legeai‐Mallet, Valérie Cormier‐Daire

    Published 2004
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