Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Maria Flora Scusa"'
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:
Paola Cipriani, Alessandro Comparini, Roberta Battini, Stefano Berrettini, Giovanni Cioni, Francesca Forli, Anna Maria Chilosi, Maria Flora Scusa
Publikováno v:
Developmental Medicine & Child Neurology. 52:856-862
Aim The effects of sensorineural hearing loss (SNHL) are often complicated by additional disabilities, but the epidemiology of associated disorders is not clearly defined. The aim of this study was to evaluate the frequency and type of additional neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06208abb002f7be3b5e46333163d4399
https://doi.org/10.1111/j.1469-8749.2010.03621.x
https://doi.org/10.1111/j.1469-8749.2010.03621.x
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
Autor:
Peter O.O. Julu, Lucia Billeci, Giovanni Pioggia, I. Gemo, E. Fonsa, P. Di Marco, Maria Flora Scusa, Laura Congiu, Giorgio Pini, Alessandro Tonacci
Publikováno v:
Autonomic Neuroscience. 192:83-84
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2238b19c43616b72dc186c4cd232899b
https://doi.org/10.1016/j.autneu.2015.07.096
https://doi.org/10.1016/j.autneu.2015.07.096
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:
B. Sales, E. Petacchi, P. B. Paolicelli, Raffaello Canapicchi, Giovanni Cioni, Maria Flora Scusa
Publikováno v:
Scopus-Elsevier
Magnetic resonance imagings of 91 children with hemiplegic cerebral palsy were analysed with the aim of clustering their features into fairly homogeneous forms. In addition, the different clinical patterns of each form were described. Four main types
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dd2d0606ad4f6f00064f4f6705bfe45
http://www.scopus.com/inward/record.url?eid=2-s2.0-0032741991&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0032741991&partnerID=MN8TOARS
Autor:
Francesca Forli, Laura Orazini, Alessandro Comparini, Anna Maria Chilosi, Maria Flora Scusa, Paola Cipriani, Stefano Berrettini
Publikováno v:
Scopus-Elsevier
OBJECTIVE A growing number of studies on deaf children with cochlear implant (CI) document a significant improvement in receptive and expressive language skills after implantation, even if they show language delay when compared with normal-hearing pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea7bd0f86d319ce0e102e10b06be47e5
http://www.scopus.com/inward/record.url?eid=2-s2.0-84877246471&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-84877246471&partnerID=MN8TOARS