Zobrazeno 1 - 10
of 184
pro vyhledávání: '"Maja di Rocco"'
Autor:
Anna Bruna Ronchetti, Marina Usai, Valentina Savino, Marco Scaglione, Chiara Maria Tacchino, Marta Bertamino, Paolo Moretti, Maja Di Rocco
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) is an autosomal dominant disease with increased bone reabsorption in the carpus and tarsus and the elbows, knees and spine. The disease is extremely heterogeneous and secondary
Externí odkaz:
https://doaj.org/article/74a1e44fbf534313b31d48e3737af182
Autor:
Maja Di Rocco, Carlo Dionisi Vici, Alberto Burlina, Francesco Venturelli, Agata Fiumara, Simona Fecarotta, Maria Alice Donati, Marco Spada, Daniela Concolino, Andrea Pession
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-6 (2023)
Abstract Background GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has recently led many inve
Externí odkaz:
https://doaj.org/article/8945f64473ae4b1884493f16f820f68a
Autor:
Andrea Pession, Maja Di Rocco, Francesco Venturelli, Barbara Tappino, William Morello, Nicola Santoro, Paola Giordano, Beatrice Filippini, Simona Rinieri, Giovanna Russo, Katia Girardi, Antonio Ruggiero, Eulalia Galea, Roberto Antonucci, Nicola Tovaglieri, Fulvio Porta, Immacolata Tartaglione, Fiorina Giona, Franca Fagioli, Alberto Burlina, Pediatric Gaucher Study Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatri
Externí odkaz:
https://doaj.org/article/92faecc5e2424f989cb71afd6db08634
Autor:
Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, Maria Domenica Cappellini, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Andrea Pession, Antonella Quarta, Maurizio Scarpa, Marco Spada, Pietro Strisciuglio, Generoso Andria
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-6 (2020)
Abstract Background How to address the counseling of lifetime risk of developing Parkinson’s disease in patients with Gaucher disease and their family members carrying a single variant of the GBA1 gene is not yet clearly defined. In addition, there
Externí odkaz:
https://doaj.org/article/ea5ca1b1470d458096f6bf3434fcbadf
Autor:
Samuel Kou, Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown, Maja Di Rocco, Richard Keen, Mona Al Mukaddam, Kim-Hanh le Quan Sang, Umesh Masharani, Frederick S. Kaplan, Robert J. Pignolo, Edward C. Hsiao
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heterotopic ossification c
Externí odkaz:
https://doaj.org/article/ecf5cd5133884fc7ab8361ac88baf204
Autor:
Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background Mitochondrial respiratory chain consists of five complexes encoded by nuclear and mitochondrial genomes. Mitochondrial aminoacyl-tRNA synthetases are key enzymes in the synthesis of such complexes. Bi-allelic variants of VARS2, a
Externí odkaz:
https://doaj.org/article/c7cb410551784920ae3f64d7008211dc
Autor:
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 Wilson, Barbara White, Donna R. Grogan, Frederick S. Kaplan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Fibrodysplasia Ossificans Progressiva (FOP; OMIM#135100) is an ultra-rare, severely disabling genetic disease characterized by congenital malformation of the great toes and progressive heterotopic ossification (HO) in muscles, ten
Externí odkaz:
https://doaj.org/article/e6cc4228a4494be991f5db29909762f4
Autor:
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, Andrew Strahs, Rose Marino, Frederick S. Kaplan
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100607- (2020)
Externí odkaz:
https://doaj.org/article/f36899907b7e499e9d2620de71c717ca
Autor:
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Andrew Strahs, Donna R. Grogan, Rose Marino, Frederick S. Kaplan
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100609- (2020)
Externí odkaz:
https://doaj.org/article/800db7cf5eef47ba9acfef2c1a8b1db7
Autor:
Rita Fischetto, Valentina Palladino, Maria M. Mancardi, Thea Giacomini, Stefano Palladino, Alberto Gaeta, Maja Di Rocco, Lucia Zampini, Giuseppe Lassandro, Vito Favia, Maria E. Tripaldi, Pietro Strisciuglio, Alfonso Romano, Mariasavina Severino, Amelia Morrone, Paola Giordano
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disab
Externí odkaz:
https://doaj.org/article/8cb14bc6ee3e49df80c9e25b779f42e3