Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Alberto Benincasa"'
Publikováno v:
Lecture Notes in Networks and Systems ISBN: 9783031160745
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e04fa3fe5c491bf4ea3d450fd99217a6
http://hdl.handle.net/11311/1220454
http://hdl.handle.net/11311/1220454
Autor:
P. Di Marco, Maria Flora Scusa, A Romanelli, Michele Zappella, P. Morescalchi, Laura Congiu, Giorgio Pini, Fabrizio Bianchi, Alessandra Ferlini, Alberto Benincasa, Stefania Bigoni, Daniela Tropea
Publikováno v:
Orphanet Journal of Rare Diseases
Background Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by a broad clinical spectrum of signs and symptoms and a peculiar course. The disease affects different body systems: nervous, muscolo-skele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90b56a2bc9e4391ef14bb7be55ebb0fe
https://doi.org/10.1186/s13023-016-0499-7
https://doi.org/10.1186/s13023-016-0499-7
Autor:
Adam H Dyer, Laura Congiu, Kevin J. Mitchell, Giorgio Pini, Niall Mortimer, Alberto Benincasa, Seán O’Leary, Stefania Bigoni, Michael Gill, Daniela Tropea, Rachel McNamara, Pietro DiMarco, Andrea Della-Chiesa
Publikováno v:
Autism Research and Treatment, Vol 2016 (2016)
Autism Research and Treatment
Autism Research and Treatment
Rett Syndrome (RTT) is a severe neurodevelopmental disorder characterized by an apparently normal development followed by an arrest and subsequent regression of cognitive and psychomotor abilities. At present, RTT has no definitive cure and the treat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be2a25a79f50c4284c6f2ddbff4e9d18
Autor:
Maria Flora Scusa, Stefano Stagi, Giorgio Pini, Laura Congiu, Loredana Cavalli, Bruno Rossi, Alberto Benincasa, Stefania Bigoni, Alessandra Ferlini
Introduction: Thyroid function in Rett syndrome (RTT) has rarely been studied with unanimous results. However, this aspect is of great concern regarding the effect thyroid hormones (TH) have on proper mammalian brain development. Objective: To evalua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d283eac39496a3d5620a6fed6261917
http://hdl.handle.net/11392/2332458
http://hdl.handle.net/11392/2332458
Repeated Insulin-Like Growth Factor 1 Treatment in a Patient with Rett Syndrome: A Single Case Study
Autor:
Ilaria Bottiglioni, Chetti Puccetti, Giorgio Pini, Michael Gill, M. Flora Scusa, Seán O’Leary, Laura Congiu, Cyrus Vadhatpour, Ilaria Gemo, Daniela Tropea, Rachel McNamara, Anna Maria Romanelli, Alberto Benincasa, Aiden Corvin
Publikováno v:
Frontiers in Pediatrics
Rett syndrome (RTT) is a devastating neurodevelopmental disorder that has no cure. Patients show regression of acquired skills, motor, and speech impairment, cardio-respiratory distress, microcephaly, and stereotyped hand movements. The majority of R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79e7d149be987321b4b60d20e38cd785
Autor:
Laura Congiu, Ilaria Bottiglioni, Alberto Benincasa, Andrea Della-Chiesa, Paolina Morescalchi, Adriele Prina-Mello, Ubaldo Bonuccelli, Paolo Borelli, Pietro Di Marco, Giorgio Pini, Daniela Tropea, Maria Flora Scusa
Publikováno v:
Autism Research and Treatment
Hindawi Publishing Corporation
Autism Research and Treatment, Vol 2012 (2012)
Hindawi Publishing Corporation
Autism Research and Treatment, Vol 2012 (2012)
Rett syndrome (RTT) is a devastating neurodevelopmental disorder that affects one in ten thousand girls and has no cure. The majority of RTT patients display mutations in the gene that codes for the methyl-CpG-binding protein 2 (MeCP2). Clinical obse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec833e0bd52c3796a3575bc99ba8c7a7
http://europepmc.org/articles/PMC3420537
http://europepmc.org/articles/PMC3420537
Autor:
Giorgio, Pini, Stefania, Bigoni, Ingegerd Witt, Engerström, Olga, Calabrese, Beatrice, Felloni, Maria Flora, Scusa, Pietro, Di Marco, Paolo, Borelli, Ubaldo, Bonuccelli, Peter O O, Julu, Jytte Bieber, Nielsen, Bodil, Morin, Stig, Hansen, Giuseppe, Gobbi, Paola, Visconti, Maria, Pintaudi, Veneselli, Edvige, Anna, Romanelli, Fabrizio, Bianchi, Manuela, Casarano, Roberta, Battini, Giovanni, Cioni, Francesca, Ariani, Alessandra, Renieri, Alberto, Benincasa, Robert S, Delamont, Michele, Zappella, Eric E J, Smeets
Publikováno v:
Neuropediatrics, 43(1), 37-43. Georg Thieme Verlag
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene.In recent years more than 60 patients with mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0409f97ebac9c4fbd6e76388ad1f213
http://hdl.handle.net/11568/202217
http://hdl.handle.net/11568/202217
Autor:
Umberto Montali, Stefania Sani, Mario Belsito, Alberto Benincasa, Giovanni V. Coppa, Orazio Gabrielli, Andrea Maiorana
Publikováno v:
Neonatology. 33:18-24
The glycosaminoglycans (GAG) isolated from pooled urine of preterm newborns were fractionated by step wise elution from a Dowex 1-X2 column. Analytical reactions, cellulose acetate electrophoresis and enzymatic digestions with chondroitinases and tes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2198873637cc772af23bc6b8869f0ba9
https://doi.org/10.1159/000241046
https://doi.org/10.1159/000241046