Zobrazeno 1 - 10
of 105
pro vyhledávání: '"Mario Mastrangelo"'
Autor:
Ida Cursio, Sabrina Siliquini, Claudia Carducci, Giovanni Bisello, Mario Mastrangelo, Vincenzo Leuzzi, Mariarita Bertoldi, Carla Marini
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder leading to severe combined serotonin, dopamine, norepinephrine, and epinephrine deficiency. We report on a female patient with borderline func
Externí odkaz:
https://doaj.org/article/bf4fab006bb44353b9e9ea7456debe5d
Autor:
Giovannina Rotundo, Elisa Maria Turco, Giorgia Ruotolo, Isabella Torrente, Ornella Candido, Gianluca Lopez, Daniela Ferrari, Caterina Caputi, Mario Mastrangelo, Francesco Pisani, Maurizio Gelati, Vito Guarnieri, Angelo Luigi Vescovi, Jessica Rosati
Publikováno v:
Stem Cell Research, Vol 67, Iss , Pp 103023- (2023)
Familial Hypocalciuric Hypercalcemia (FHH1) is a rare autosomal dominant disease with low penetrance, caused by inactivating mutations of the calcium-sensing receptor (CaSR) gene, characterized by significant hypercalcemia, inappropriately normal ser
Externí odkaz:
https://doaj.org/article/bd4d9d6c4453439299b695a132d14c71
Autor:
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Inherited disorders of neurotransmitter metabolism represent a group of rare neurometabolic diseases characterized by movement disorders and developmental delay. Here, the authors report a standardized evaluation of a registry of 275 patients from 42
Externí odkaz:
https://doaj.org/article/57ed0d119cac4d23beb8d71a0c1e8d75
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/ff08db8bef3c430b9b108ed452dd6ead
Autor:
Silvia Leoncini, Lidia Boasiako, Diego Lopergolo, Maria Altamura, Caterina Fazzi, Roberto Canitano, Salvatore Grosso, Ilaria Meloni, Margherita Baldassarri, Susanna Croci, Alessandra Renieri, Mario Mastrangelo, Claudio De Felice
Publikováno v:
Children, Vol 10, Iss 9, p 1442 (2023)
Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural hi
Externí odkaz:
https://doaj.org/article/cdcfb895c61d4be8a944410f5a023c07
Autor:
Mario Mastrangelo, Serena Galosi, Serena Cesario, Alessia Renzi, Lucilla Campea, Vincenzo Leuzzi
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundThis paper aimed to evaluate the frequency of observation of genetically determined developmental encephalopathies with epilepsy and movement disorders in a specialistic center, the distribution of etiologies and presenting clinical hallmar
Externí odkaz:
https://doaj.org/article/8ebb39caf4404165a045a68e145a06c2
Autor:
Mario Mastrangelo, Valentina Gasparri, Katerina Bernardi, Silvia Foglietta, Georgia Ramantani, Francesco Pisani
Publikováno v:
Children, Vol 10, Iss 3, p 553 (2023)
Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and glycosylph
Externí odkaz:
https://doaj.org/article/f5537317b768411db319336e78c86e33
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/be41af8128154b17bae7590996d85f93
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
Abstract Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesi
Externí odkaz:
https://doaj.org/article/5335fbb4b17444b0bc5403d7a034e417
Autor:
Serena Cesario, Consuelo Basile, Matteo Trevisan, Federica Gigliotti, Filippo Manti, Rita Maria Esposito, Giuseppe Abbracciavento, Mario Mastrangelo
Publikováno v:
Children, Vol 9, Iss 6, p 867 (2022)
Background. This study aimed to investigate the consequence of the COVID 19-related lockdown on the well-being of children with neurological and neurodevelopmental disorders and the repercussion on parental stress during the period 9 March 2020–3 M
Externí odkaz:
https://doaj.org/article/63362ecbd9aa44dbab4a6b6538e7ee78