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Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report.
Published in:
Clinical Genetics, 1997, v. 52, n. 3, p. 184, doi. 10.1111/j.1399-0004.1997.tb02542.x
By:
- Romanengo, Marta;
- Tortori-Donati, Paolo;
- Rocco, Maja Di
Publication type:
Article
Open issues in Mucopolysaccharidosis type I-Hurler.
Published in:
2017
By:
- Parini, Rossella;
- Deodato, Federica;
- Di Rocco, Maja;
- Lanino, Edoardo;
- Locatelli, Franco;
- Messina, Chiara;
- Rovelli, Attilio;
- Scarpa, Maurizio
Publication type:
journal article
International physician survey on management of FOP: a modified Delphi study.
Published in:
2017
By:
- Di Rocco, Maja;
- Baujat, Genevieve;
- Bertamino, Marta;
- Brown, Matthew;
- De Cunto, Carmen L.;
- Delai, Patricia L. R.;
- Eekhoff, Elisabeth M. W.;
- Nobuhiko Haga;
- Hsiao, Edward;
- Keen, Richard;
- Morhart, Rolf;
- Pignolo, Robert J.;
- Kaplan, Frederick S.;
- Haga, Nobuhiko
Publication type:
journal article
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y
By:
- Fecarotta, Simona;
- Romano, Alfonso;
- Casa, Roberto Della;
- Giudice, Ennio Del;
- Bruschini, Diana;
- Mansi, Giuseppina;
- Bembi, Bruno;
- Dardis, Andrea;
- Fiumara, Agata;
- Rocco, Maja Di;
- Uziel, Graziella;
- Ardissone, Anna;
- Roccatello, Dario;
- Alpa, Mirella;
- Bertini, Enrico;
- D'Amico, Adele;
- Dionisi-Vici, Carlo;
- Deodato, Federica;
- Caviglia, Stefania;
- Federico, Antonio
Publication type:
Article
Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 1, p. 328, doi. 10.3390/ijms23010328
By:
- Resaz, Roberta;
- Cangelosi, Davide;
- Segalerba, Daniela;
- Morini, Martina;
- Uva, Paolo;
- Bosco, Maria Carla;
- Banderali, Giuseppe;
- Estrella, Ana;
- Wanner, Corbinian;
- Weinstein, David A.;
- Sechi, Annalisa;
- Paci, Sabrina;
- Melis, Daniela;
- Di Rocco, Maja;
- Lee, Young Mok;
- Eva, Alessandra
Publication type:
Article
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Published in:
Cerebellum, 2021, v. 20, n. 4, p. 596, doi. 10.1007/s12311-021-01242-x
By:
- Pettinato, Fabio;
- Mostile, Giovanni;
- Battini, Roberta;
- Martinelli, Diego;
- Madeo, Annalisa;
- Biamino, Elisa;
- Frattini, Daniele;
- Garozzo, Domenico;
- Gasperini, Serena;
- Parini, Rossella;
- Sirchia, Fabio;
- Sortino, Giuseppe;
- Sturiale, Luisa;
- Matthijs, Gert;
- Morrone, Amelia;
- Di Rocco, Maja;
- Rizzo, Renata;
- Jaeken, Jaak;
- Fiumara, Agata;
- Barone, Rita
Publication type:
Article
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1371
By:
- Fischetto, Rita;
- Palladino, Valentina;
- Mancardi, Maria M.;
- Giacomini, Thea;
- Palladino, Stefano;
- Gaeta, Alberto;
- Di Rocco, Maja;
- Zampini, Lucia;
- Lassandro, Giuseppe;
- Favia, Vito;
- Tripaldi, Maria E.;
- Strisciuglio, Pietro;
- Romano, Alfonso;
- Severino, Mariasavina;
- Morrone, Amelia;
- Giordano, Paola
Publication type:
Article
Molecular basis and clinical management of Gaucher disease.
Published in:
Cardiogenetics, 2013, v. 3, n. 1s, p. 24, doi. 10.4081/cardiogenetics.2013.s1.e4
By:
- Di Rocco, Maja;
- Loggini, Andrea;
- Russo, Pierluigi
Publication type:
Article
New insights into central nervous system involvement in FOP: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2817, doi. 10.1002/ajmg.a.37271
By:
- Bertamino, Marta;
- Severino, Mariasavina;
- Schiaffino, Maria Cristina;
- Garrè, Maria Luisa;
- Bocciardi, Renata;
- Ravazzolo, Roberto;
- Rossi, Andrea;
- Di Rocco, Maja
Publication type:
Article
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 537, doi. 10.1002/ajmg.a.36895
By:
- Tassano, Elisa;
- Jagannathan, Vidhya;
- Drögemüller, Cord;
- Leoni, Massimiliano;
- Hytönen, Marjo K.;
- Severino, Mariasavina;
- Gimelli, Stefania;
- Cuoco, Cristina;
- Di Rocco, Maja;
- Sanio, Kirsi;
- Groves, Andrew K.;
- Leeb, Tosso;
- Gimelli, Giorgio
Publication type:
Article
Recurrent microdeletion 2q21.1: Report on a new patient with neurological disorders.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 801, doi. 10.1002/ajmg.a.36357
By:
- Gimelli, Stefania;
- Stathaki, Elisavet;
- Béna, Frédérique;
- Leoni, Massimiliano;
- Di Rocco, Maja;
- Cuoco, Cristina;
- Tassano, Elisa
Publication type:
Article
Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement.
Published in:
Journal of Bone & Mineral Research, 2006, v. 21, n. 7, p. 1098, doi. 10.1359/jbmr.060403
By:
- Pangrazio, Alessandra;
- Poliani, Pietro Luigi;
- Megarbane, André;
- Lefranc, Gérard;
- Lanino, Edoardo;
- Di Rocco, Maja;
- Rucci, Francesca;
- Lucchini, Franco;
- Ravanini, Maria;
- Facchetti, Fabio;
- Abinun, Mario;
- Vezzoni, Paolo;
- Villa, Anna;
- Frattini, Annalisa
Publication type:
Article
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 1, p. 85, doi. 10.1038/ng.1016
By:
- Le Goff, Carine;
- Mahaut, Clémentine;
- Abhyankar, Avinash;
- Le Goff, Wilfried;
- Serre, Valérie;
- Afenjar, Alexandra;
- Destrée, Anne;
- di Rocco, Maja;
- Héron, Delphine;
- Jacquemont, Sébastien;
- Marlin, Sandrine;
- Simon, Marleen;
- Tolmie, John;
- Verloes, Alain;
- Casanova, Jean-Laurent;
- Munnich, Arnold;
- Cormier-Daire, Valérie
Publication type:
Article
Corrigendum: Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
Published in:
2011
By:
- Cullinane, Andrew R;
- Straatman-Iwanowska, Anna;
- Zaucker, Andreas;
- Wakabayashi, Yoshiyuki;
- Bruce, Christopher K;
- Luo, Guanmei;
- Rahman, Fatimah;
- Gürakan, Figen;
- Utine, Eda;
- Özkan, Tanju B;
- Denecke, Jonas;
- Vukovic, Jurica;
- Rocco, Maja Di;
- Mandel, Hanna;
- Cangul, Hakan;
- Matthews, Randolph P;
- Thomas, Steve G;
- Rappoport, Joshua Z;
- Arias, Irwin M;
- Wolburg, Hartwig
Publication type:
Correction Notice
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
Published in:
Nature Genetics, 2010, v. 42, n. 4, p. 303, doi. 10.1038/ng.538
By:
- Cullinane, Andrew R.;
- Straatman-Iwanowska, Anna;
- Zaucker, Andreas;
- Wakabayashi, Yoshiyuki;
- Bruce, Christopher K.;
- Luo, Guanmei;
- Rahman, Fatimah;
- Gürakan, Figen;
- Utine, Eda;
- Özkan, Tanju B.;
- Denecke, Jonas;
- Vukovic, Jurica;
- Di Rocco, Maja;
- Mandel, Hanna;
- Cangul, Hakan;
- Matthews, Randolph P.;
- Thomas, Steve G.;
- Rappoport, Joshua Z.;
- Arias, Irwin M.;
- Wolburg, Hartwig
Publication type:
Article
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Published in:
Nature Genetics, 2004, v. 36, n. 4, p. 400, doi. 10.1038/ng1325
By:
- Gissen, Paul;
- Johnson, Colin A.;
- Morgan, Neil V.;
- Stapelbroek, Janneke M.;
- Forshew, Tim;
- Cooper, Wendy N.;
- McKiernan, Patrick J.;
- Klomp, Leo W. J.;
- Morris, Andrew A. M.;
- Wraith, James E.;
- McClean, Patricia;
- Lynch, Sally A.;
- Thompson, Richard J.;
- Lo, Bryan;
- Quarrell, Oliver W.;
- Di Rocco, Maja;
- Trembath, Richard C.;
- Mandel, Hanna;
- Wali, S.;
- Karet, Fiona E.
Publication type:
Article
Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1.
Published in:
2002
By:
- de Boer, Martin;
- Singh, Vinita;
- Dekker, Jan;
- Di Rocco, Maja;
- Goldblatt, David;
- Roos, Dirk
Publication type:
journal article
Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes.
Published in:
2019
By:
- Pignolo, Robert J.;
- Baujat, Geneviève;
- Brown, Matthew A.;
- De Cunto, Carmen;
- Di Rocco, Maja;
- Hsiao, Edward C.;
- Keen, Richard;
- Al Mukaddam, Mona;
- Sang, Kim-Hanh Le Quan;
- Wilson, Amy;
- White, Barbara;
- Grogan, Donna R.;
- Kaplan, Frederick S.
Publication type:
corrected article
Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes.
Published in:
2019
By:
- Pignolo, Robert J.;
- Baujat, Geneviève;
- Brown, Matthew A.;
- De Cunto, Carmen;
- DiRocco, Maja;
- Hsiao, Edward C.;
- Keen, Richard;
- Al Mukaddam, Mona;
- Sang, Kim-Hanh Le Quan;
- Wilson, Amy;
- White, Barbara;
- Grogan, Donna R.;
- Kaplan, Frederick S.;
- Di Rocco, Maja
Publication type:
journal article
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Published in:
2018
By:
- Parini, Rossella;
- De Lorenzo, Paola;
- Dardis, Andrea;
- Burlina, Alberto;
- Cassio, Alessandra;
- Cavarzere, Paolo;
- Concolino, Daniela;
- Della Casa, Roberto;
- Deodato, Federica;
- Donati, Maria Alice;
- Fiumara, Agata;
- Gasperini, Serena;
- Menni, Francesca;
- Pagliardini, Veronica;
- Sacchini, Michele;
- Spada, Marco;
- Taurisano, Roberta;
- Valsecchi, Maria Grazia;
- Di Rocco, Maja;
- Bembi, Bruno
Publication type:
journal article
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency.
Published in:
2018
By:
- Di Rocco, Maja;
- Pisciotta, Livia;
- Madeo, Annalisa;
- Bertamino, Marta;
- Bertolini, Stefano
Publication type:
journal article
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.
Published in:
2017
By:
- Pichiecchio, Anna;
- Rossi, Marta;
- Cinnante, Claudia;
- Colafati, Giovanna Stefania;
- Icco, Roberto;
- Parini, Rossella;
- Menni, Francesca;
- Furlan, Francesca;
- Burlina, Alberto;
- Sacchini, Michele;
- Donati, Maria Alice;
- Fecarotta, Simona;
- Casa, Roberto Della;
- Deodato, Federica;
- Taurisano, Roberta;
- Rocco, Maja;
- De Icco, Roberto;
- Di Rocco, Maja
Publication type:
journal article
Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes.
Published in:
BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-43
By:
- Di Rocco, Alessandro;
- Loggini, Andrea;
- Di Rocco, Maja;
- Di Rocco, Pietro;
- Rossi, Roger P.;
- Gimelli, Giorgio;
- Bazil, Carl
Publication type:
Article
Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes.
Published in:
2013
By:
- Di Rocco, Alessandro;
- Loggini, Andrea;
- Di Rocco, Maja;
- Di Rocco, Pietro;
- Rossi, Roger P;
- Gimelli, Giorgio;
- Bazil, Carl
Publication type:
journal article
Clinical and molecular genetic features of ARC syndrome.
Published in:
Human Genetics, 2006, v. 120, n. 3, p. 396, doi. 10.1007/s00439-006-0232-z
By:
- Gissen, Paula;
- Tee, Louise;
- Johnson, Colin A.;
- Genin, Emmanuelle;
- Caliebe, Almuth;
- Chitayat, David;
- Clericuzio, Carol;
- Denecke, Jonas;
- Di Rocco, Maja;
- Fischler, Björn;
- FitzPatrick, David;
- García-Cazorla, Angeles;
- Guyot, Delphine;
- Jacquemont, Sebastien;
- Koletzko, Sibylle;
- Leheup, Bruno;
- Mandel, Hanna;
- Sanseverino, Maria Teresa Viera;
- Houwen, Roderick H. J.;
- McKiernan, Patrick J.
Publication type:
Article
Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative.
Published in:
Internal Medicine Journal, 2019, v. 49, n. 5, p. 578, doi. 10.1111/imj.14156
By:
- Mehta, Atul;
- Kuter, David J.;
- Salek, Sam S.;
- Belmatoug, Nadia;
- Bembi, Bruno;
- Bright, Jeremy;
- vom Dahl, Stephan;
- Deodato, Federica;
- Di Rocco, Maja;
- Göker‐Alpan, Ozlem;
- Hughes, Derralynn A.;
- Lukina, Elena A.;
- Machaczka, Maciej;
- Mengel, Eugen;
- Nagral, Aabha;
- Nakamura, Kimitoshi;
- Narita, Aya;
- Oliveri, Beatriz;
- Pastores, Gregory;
- Pérez‐López, Jordi
Publication type:
Article
Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP).
Published in:
British Journal of Clinical Pharmacology, 2019, v. 85, n. 6, p. 1199, doi. 10.1111/bcp.13777
By:
- Hsiao, Edward C.;
- Di Rocco, Maja;
- Cali, Amanda;
- Zasloff, Michael;
- Al Mukaddam, Mona;
- Pignolo, Robert J.;
- Grunwald, Zvi;
- Netelenbos, Coen;
- Keen, Richard;
- Baujat, Genevieve;
- Brown, Matthew A.;
- Cho, Tae‐Joon;
- De Cunto, Carmen;
- Delai, Patricia;
- Haga, Nobuhiko;
- Morhart, Rolf;
- Scott, Christiaan;
- Zhang, Keqin;
- Diecidue, Robert J.;
- Friedman, Clive S.
Publication type:
Article
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.274
By:
- Bravenboer, Nathalie;
- Micha, Dimitra;
- Triffit, James T;
- Bullock, Alex N;
- Ravazollo, Roberto;
- Bocciardi, Renata;
- di Rocco, Maja;
- Netelenbos, J Coen;
- Ten Dijke, Peter;
- Sánchez-Duffhues, Gonzalo;
- Kaplan, Fred S;
- Shore, Eileen M;
- Pignolo, Robert J;
- Seemann, Petra;
- Ventura, Francesc;
- Beaujat, Genevieve;
- Eekhoff, Elizabeth M W;
- Pals, Gerard
Publication type:
Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288
By:
- Michot, Caroline;
- Le Goff, Carine;
- Mahaut, Clémentine;
- Afenjar, Alexandra;
- Brooks, Alice S;
- Campeau, Philippe M;
- Destree, Anne;
- Di Rocco, Maja;
- Donnai, Dian;
- Hennekam, Raoul;
- Heron, Delphine;
- Jacquemont, Sébastien;
- Kannu, Peter;
- Lin, Angela E;
- Manouvrier-Hanu, Sylvie;
- Mansour, Sahar;
- Marlin, Sandrine;
- McGowan, Ruth;
- Murphy, Helen;
- Raas-Rothschild, Annick
Publication type:
Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182
By:
- Michot, Caroline;
- Le Goff, Carine;
- Mahaut, Clémentine;
- Afenjar, Alexandra;
- Brooks, Alice S;
- Campeau, Philippe M;
- Destree, Anne;
- Di Rocco, Maja;
- Donnai, Dian;
- Hennekam, Raoul;
- Heron, Delphine;
- Jacquemont, Sébastien;
- Kannu, Peter;
- Lin, Angela E;
- Manouvrier-Hanu, Sylvie;
- Mansour, Sahar;
- Marlin, Sandrine;
- McGowan, Ruth;
- Murphy, Helen;
- Raas-Rothschild, Annick
Publication type:
Article
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 6, p. 741, doi. 10.1038/ejhg.2013.229
By:
- Wilson, Gabrielle R;
- Sunley, Jasmine;
- Smith, Katherine R;
- Pope, Kate;
- Bromhead, Catherine J;
- Fitzpatrick, Elizabeth;
- Di Rocco, Maja;
- van Steensel, Maurice;
- Coman, David J;
- Leventer, Richard J;
- Delatycki, Martin B;
- Amor, David J;
- Bahlo, Melanie;
- Lockhart, Paul J
Publication type:
Article
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 7, p. 734, doi. 10.1038/ejhg.2012.7
By:
- Russo, Silvia;
- Masciadri, Maura;
- Gervasini, Cristina;
- Azzollini, Jacopo;
- Cereda, Anna;
- Zampino, Giuseppe;
- Haas, Oskar;
- Scarano, Gioacchino;
- Di Rocco, Maja;
- Finelli, Palma;
- Tenconi, Romano;
- Selicorni, Angelo;
- Larizza, Lidia
Publication type:
Article
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 3, p. 311, doi. 10.1038/ejhg.2008.178
By:
- Bocciardi, Renata;
- Bordo, Domenico;
- Di Duca, Marco;
- Di Rocco, Maja;
- Ravazzolo, Roberto
Publication type:
Article
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 8, p. 651, doi. 10.1038/sj.ejhg.5200691
By:
- Houten, Sander M;
- Koster, Janet;
- Romeijn, Gerrit-Jan;
- Frenkel, Joost;
- Di Rocco, Maja;
- Caruso, Ubaldo;
- Landrieu, Pierre;
- Kelley, Richard I;
- Kuis, Wietse;
- Poll-The, Bwee Tien;
- Gibson, K Michael;
- Wanders, Ronald J A;
- Waterham, Hans R
Publication type:
Article
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 4, p. 253, doi. 10.1038/sj.ejhg.5200595
By:
- Houten, Sander M;
- Koster, Janet;
- Romeijn, Gerrit-Jan;
- Frenkel, Joost;
- Di Rocco, Maja;
- Caruso, Ubaldo;
- Landrieu, Pierre;
- Kelley, Richard I;
- Kuis, Wietse;
- Poll-The, Bwee Tien;
- Gibson, K Michael;
- Wanders, Ronald JA;
- Waterham, Hans R
Publication type:
Article
Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and "Function Profile": a rehabilitative approach.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02976-z
By:
- Ronchetti, Anna Bruna;
- Usai, Marina;
- Savino, Valentina;
- Scaglione, Marco;
- Tacchino, Chiara Maria;
- Bertamino, Marta;
- Moretti, Paolo;
- Di Rocco, Maja
Publication type:
Article
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02797-0
By:
- Di Rocco, Maja;
- Vici, Carlo Dionisi;
- Burlina, Alberto;
- Venturelli, Francesco;
- Fiumara, Agata;
- Fecarotta, Simona;
- Donati, Maria Alice;
- Spada, Marco;
- Concolino, Daniela;
- Pession, Andrea
Publication type:
Article
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02760-z
By:
- Pession, Andrea;
- Di Rocco, Maja;
- Venturelli, Francesco;
- Tappino, Barbara;
- Morello, William;
- Santoro, Nicola;
- Giordano, Paola;
- Filippini, Beatrice;
- Rinieri, Simona;
- Russo, Giovanna;
- Girardi, Katia;
- Ruggiero, Antonio;
- Galea, Eulalia;
- Antonucci, Roberto;
- Tovaglieri, Nicola;
- Porta, Fulvio;
- Tartaglione, Immacolata;
- Giona, Fiorina;
- Fagioli, Franca;
- Burlina, Alberto
Publication type:
Article
VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype.
Published in:
BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0798-7
By:
- Begliuomini, Chiara;
- Magli, Giorgio;
- Di Rocco, Maja;
- Santorelli, Filippo M.;
- Cassandrini, Denise;
- Nesti, Claudia;
- Deodato, Federica;
- Diodato, Daria;
- Casellato, Susanna;
- Simula, Delia M.;
- Dessì, Veronica;
- Eusebi, Anna;
- Carta, Alessandra;
- Sotgiu, Stefano
Publication type:
Article
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-53995-5
By:
- Tonin, Rodolfo;
- Caciotti, Anna;
- Procopio, Elena;
- Fischetto, Rita;
- Deodato, Federica;
- Mancardi, Maria Margherita;
- Di Rocco, Maja;
- Ardissone, Anna;
- Salviati, Alessandro;
- Marangi, Antonio;
- Strisciuglio, Pietro;
- Mangone, Giusi;
- Casini, Arianna;
- Ricci, Silvia;
- Fiumara, Agata;
- Parini, Rossella;
- Pavone, Francesco Saverio;
- Guerrini, Renzo;
- Calamai, Martino;
- Morrone, Amelia
Publication type:
Article
COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 396, doi. 10.1111/cge.13683
By:
- Morlino, Silvia;
- Micale, Lucia;
- Ritelli, Marco;
- Rohrbach, Marianne;
- Zoppi, Nicoletta;
- Vandersteen, Anthony;
- Mackay, Sara;
- Agolini, Emanuele;
- Cocciadiferro, Dario;
- Sasaki, Erina;
- Madeo, Annalisa;
- Ferraris, Alessandro;
- Reardon, Willie;
- Di Rocco, Maja;
- Novelli, Antonio;
- Grammatico, Paola;
- Malfait, Fransiska;
- Mazza, Tommaso;
- Hakim, Alan;
- Giunta, Cecilia
Publication type:
Article
Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Published in:
Clinical Genetics, 2020, v. 97, n. 1, p. 209, doi. 10.1111/cge.13639
By:
- Buers, Insa;
- Persico, Ivana;
- Schöning, Lara;
- Nitschke, Yvonne;
- Di Rocco, Maja;
- Loi, Angela;
- Sahi, Puneet Kaur;
- Utine, Gulen Eda;
- Bayraktar‐Tanyeri, Bilge;
- Zampino, Giuseppe;
- Crisponi, Giangiorgio;
- Rutsch, Frank;
- Crisponi, Laura
Publication type:
Article
Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?
Published in:
2020
By:
- Di Rocco, Maja;
- Di Fonzo, Alessio;
- Barbato, Antonio;
- Cappellini, Maria Domenica;
- Carubbi, Francesca;
- Giona, Fiorina;
- Giuffrida, Gaetano;
- Linari, Silvia;
- Pession, Andrea;
- Quarta, Antonella;
- Scarpa, Maurizio;
- Spada, Marco;
- Strisciuglio, Pietro;
- Andria, Generoso
Publication type:
journal article
Patients with ACVR1<sup>R206H</sup> mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva.
Published in:
2020
By:
- Kou, Samuel;
- De Cunto, Carmen;
- Baujat, Geneviève;
- Wentworth, Kelly L.;
- Grogan, Donna R.;
- Brown, Matthew A.;
- Di Rocco, Maja;
- Keen, Richard;
- Al Mukaddam, Mona;
- le Quan Sang, Kim-Hanh;
- Masharani, Umesh;
- Kaplan, Frederick S.;
- Pignolo, Robert J.;
- Hsiao, Edward C.
Publication type:
journal article
Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes.
Published in:
2001
By:
- Di Rocco, Maja;
- Doria-Lamba, Laura;
- Caruso, Ubaldo;
- Di Rocco, M;
- Doria-Lamba, L;
- Caruso, U
Publication type:
Case Study
<sup>99m</sup>Tc-Sestamibi Scintigraphy to Monitor the Long-Term Efficacy of Enzyme Replacement Therapy on Bone Marrow Infiltration in Patients with Gaucher Disease.
Published in:
Journal of Nuclear Medicine, 2013, v. 54, n. 10, p. 1717, doi. 10.2967/jnumed.113.121871
By:
- Erba, Paola A.;
- Minichilli, Fabrizio;
- Giona, Fiorina;
- Linari, Silvia;
- Dambrosia, James;
- Pierini, Anna;
- Filocamo, Mirella;
- Di Rocco, Maja;
- Buffoni, Ferdinando;
- Brady, Roscoe O.;
- Mariani, Giuliano
Publication type:
Article
Mucopolysaccharidoses: early diagnostic signs in infants and children.
Published in:
Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0550-5
By:
- Galimberti, Cinzia;
- Madeo, Annalisa;
- Di Rocco, Maja;
- Fiumara, Agata
Publication type:
Article
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
Published in:
Journal of Neurology, 2013, v. 260, n. 7, p. 1866, doi. 10.1007/s00415-013-6896-0
By:
- Biancheri, Roberta;
- Cassandrini, Denise;
- Pinto, Francesca;
- Trovato, Rosanna;
- Di Rocco, Maja;
- Mirabelli-Badenier, Marisol;
- Pedemonte, Marina;
- Panicucci, Chiara;
- Trucks, Holger;
- Sander, Thomas;
- Zara, Federico;
- Rossi, Andrea;
- Striano, Pasquale;
- Minetti, Carlo;
- Santorelli, Filippo
Publication type:
Article
Allogeneic hematopoietic cell transplantation in Farber disease.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 286, doi. 10.1002/jimd.12043
By:
- Ehlert, Karoline;
- Levade, Thierry;
- Di Rocco, Maja;
- Lanino, Edoardo;
- Albert, Michael H.;
- Führer, Monika;
- Jarisch, Andrea;
- Güngör, Tayfun;
- Ayuk, Francis;
- Vormoor, Josef
Publication type:
Article
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study.
Published in:
Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 83, doi. 10.1007/s10545-012-9490-1
By:
- Sechi, Annalisa;
- Deroma, Laura;
- Lapolla, Annunziata;
- Paci, Sabrina;
- Melis, Daniela;
- Burlina, Alberto;
- Carubbi, Francesca;
- Rigoldi, Miriam;
- Di Rocco, Maja
Publication type:
Article

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