Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Melania Falchi"'
Autor:
Gianpaolo Donzelli, Francesca Tinelli, Letizia Padrini, Rosa T. Scaramuzzo, Maria Luisa Della Bona, Luca Filippi, Elettra Berti, Elisa Landucci, Patrizio Fiorini, Matteo Giampietri, Giovanni Cioni, Renzo Guerrini, Erika Fiorentini, Andrea Guzzetta, Laura Bartalena, Antonio Boldrini, Simona Fiori, Giancarlo la Marca, Melania Falchi, Tiziana Pisano, Serena Catarzi, Ada Bancale
Publikováno v:
The Journal of Maternal-Fetal & Neonatal Medicine. 31:973-980
To investigate the feasibility of a study based on treatment with topiramate (TPM) added to moderate hypothermia in newborns with hypoxic ischemic encephalopathy (HIE).Multicenter randomized controlled trial. Term newborns with precocious metabolic,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bed748e8f3f618c9fe42bf736368693c
https://doi.org/10.1080/14767058.2017.1304536
https://doi.org/10.1080/14767058.2017.1304536
Autor:
Javier Salas-Puig, Laura Grisotto, Anna Rita Ferrari, Elena Parrini, Carmen Barba, Annio Posar, Antonia Parmeggiani, Melania Falchi, Mirco Cosottini, Renzo Guerrini, Francesco Zellini, Giovanni Ambrosetto, Margherita Santucci, Emanuele Bartolini
Publikováno v:
Neurology. 86:1250-1259
Objective: We explored the long-term follow-up of continuous spike-and-wave complexes during sleep (CSWS) in polymicrogyria and the anatomic volumetric variables that influence the risk of developing this age-related epileptic encephalopathy. Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0fcbbce6d88642342441eea2528b0dc
https://doi.org/10.1212/wnl.0000000000002526
https://doi.org/10.1212/wnl.0000000000002526
Autor:
Maria Luisa Della Bona, Jianjun Ou, Joanne Marjason, Akito Tanaka, Guang-Dong Sun, Melania Falchi, Takayuki Nemoto, Ye Jia, Shengzi Wang, Li-Ning Miao, Hiroyuki Watanabe, Shirin Bruderer, Nianzu Chen, Yamin Li, Takayoshi Ohba, Meixian Ou, Manabu Murakami, Jasper Dingemanse, Changjiang Li, Mohamed A. El-Moselhy, Takashi Nakano, Akira Sawaguchi, S.C. Tyagi, Hiroshi Yano, Simona Pellacani, Akira Asai, Tadashi Shimizu, Yasushi Ishida, Toshihiko Yanagita, Miho Iwase, Masashi Tawa, Sabrina Malvagia, Masato Komai, Tomoyuki Nishizaki, Hiroko Akiyoshi, Tetsuro Shirasaka, Hongliang Zhang, Patricia N. Sidharta, Takashi Sato, Ohshima Etsuo, Hang Yuan, Takashi Shimosato, Motoki Miyama, Isao Tsuneyoshi, Takeshi Imamura, Ping Luo, Taomin Huang, S. Pushpakumar, Renrong Wu, Druck Reinhardt Druck Basel, N. Narayanan, Mohamed A. Morsy, F. Armaghan, Katsuaki Dan, Kaori Munakata, Kazuyoshi Hirota, Hideki Hasegawa, Ichiro Miki, Renzo Guerrini, Yuto Ueda, Kenji Watanabe, Tomio Okamura, Takeshi Kanno, S. Dalaklioglu-Tasatargil, Fumiyo Toyoshima-Aoyama, Ayman Geddawy, Anna Rosati, Giancarlo la Marca, Nian Liu, Yan Zeng, S. Givvimani
Publikováno v:
Pharmacology. 91:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77b9c797b7371af37292b1f937f34550
https://doi.org/10.1159/000353890
https://doi.org/10.1159/000353890
Autor:
Renzo Guerrini, Melania Falchi
Publikováno v:
Developmental Medicine & Child Neurology. 53:11-15
Some studies have demonstrated that cognitive decline occurs in Dravet syndrome, starting shortly after the onset of seizures, rapidly progressing and then plateauing within a few years. It is unclear whether children that develop the syndrome had en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdef4f82b4a385dbe6ea9bc176b31adf
https://doi.org/10.1111/j.1469-8749.2011.03966.x
https://doi.org/10.1111/j.1469-8749.2011.03966.x
Publikováno v:
American Journal of Medical Genetics Part A. 155:164-167
Aristaless related homeobox (ARX) is a transcription factor containing highly conserved octapeptide, homeobox, acidic, and aristaless domains, as well as four polyA tracts. The most frequent ARX mutation found to date in patients with X-linked infant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d559e695306a9e39484237c4f03dac90
https://doi.org/10.1002/ajmg.a.33753
https://doi.org/10.1002/ajmg.a.33753
Autor:
Giorgio Gaspa, Dario Pruna, Tiziana Pisano, Vassilios Fanos, Mattia De Martinis, Giuliana Palmas, Carlo Cianchetti, Melania Falchi, Melania Puddu, Marta Meloni
Publikováno v:
Epilepsia. 50:37-40
With the development of intensive care, the survival of extremely low-birthweight (ELBW) infants (1,000 g) has greatly improved. The aim of our study was to report the incidence of epilepsy after a follow-up of7 years in a population of ELBW children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55cb1d8e51089179cdf1eb1078f63365
https://doi.org/10.1111/j.1528-1167.2008.01968.x
https://doi.org/10.1111/j.1528-1167.2008.01968.x
Autor:
Elena, Cellini, Aglaia, Vignoli, Tiziana, Pisano, Melania, Falchi, Anna, Molinaro, Patrizia, Accorsi, Alessia, Bontacchio, Lorenzo, Pinelli, Lucio, Giordano, Renzo, Guerrini, Gianna, Bertani
Publikováno v:
Developmental medicine and child neurology. 58(1)
Aim Forkhead Box G1 (FOXG1) syndrome is a developmental encephalopathy characterized by postnatal microcephaly, structural brain abnormalities, facial dysmorphisms, severe delay with absent language, defective social interactions, and epilepsy. Abnor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1694133c141f9b10c2dfdadce5b29c9f
https://pubmed.ncbi.nlm.nih.gov/26365232
https://pubmed.ncbi.nlm.nih.gov/26365232
Publikováno v:
Journal of Child Neurology. 23:916-918
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is characterized by megalencephaly, perisylvian polymicrogyria, postaxial polydactyly, and hydrocephalus. Seven cases have been reported. This report presents a new sporadic patient wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a83fe77819dd0004648f2a2ca8d9ecd4
https://doi.org/10.1177/0883073808315623
https://doi.org/10.1177/0883073808315623
Autor:
Maria Luisa Della Bona, Renzo Guerrini, Sara Savelli, Giancarlo la Marca, Patrizio Fiorini, Marta Daniotti, Claudio Fonda, Sabrina Malvagia, Antonio Boldrini, Melania Falchi, Francesca Tinelli, Giovanni Cioni, Matteo Giampietri, Paola Papoff, Alberto Spalice, Gianpaolo Donzelli, Rosa T. Scaramuzzo, Francesca Del Balzo, Laura Bartalena, Luca Filippi, Serena Catarzi, Tiziana Pisano
Publikováno v:
BMC Pediatrics
Università degli studi di Firenze-IRIS
BMC Pediatrics, Vol 12, Iss 1, p 144 (2012)
Università degli studi di Firenze-IRIS
BMC Pediatrics, Vol 12, Iss 1, p 144 (2012)
Background Despite progresses in neonatal care, the mortality and the incidence of neuro-motor disability after perinatal asphyxia have failed to show substantial improvements. In countries with a high level of perinatal care, the incidence of asphyx
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97eb07bd8b424c070f2b1c7ff266cb0f
https://pubmed.ncbi.nlm.nih.gov/22950861
https://pubmed.ncbi.nlm.nih.gov/22950861
Autor:
Emanuele Bartolini, Sanjay M. Sisodiya, Carla Marini, Melania Falchi, Raoul C.M. Hennekam, Chantal Depondt, Jan Novy, Zoe Fox, Peter Hammond, Krishna Chinthapalli, Josemir W. Sander, Michael Suttie, Lisa M. S. Clayton, Renzo Guerrini
Publikováno v:
Brain, 135(10), 3101-3114. Oxford University Press
Brain
Brain, 135 (Pt 10
Brain
Brain, 135 (Pt 10
Many pathogenic structural variants of the human genome are known to cause facial dysmorphism. During the past decade, pathogenic structural variants have also been found to be an important class of genetic risk factor for epilepsy. In other fields,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f67bd95c0af0812ab7ffac1b945a98
https://pure.amc.nl/en/publications/atypical-face-shape-and-genomic-structural-variants-in-epilepsy(0143f593-0e32-4e49-ab01-af5c9ade2c00).html
https://pure.amc.nl/en/publications/atypical-face-shape-and-genomic-structural-variants-in-epilepsy(0143f593-0e32-4e49-ab01-af5c9ade2c00).html
