Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Carecchio, P."'
Autor:
Marta Campagnolo, Luca Weis, Michele Sandre, Aleksandar Tushevski, Francesco Paolo Russo, Edoardo Savarino, Miryam Carecchio, Elena Stocco, Veronica Macchi, Raffaele De Caro, Piero Parchi, Luigi Bubacco, Andrea Porzionato, Angelo Antonini, Aron Emmi
Publikováno v:
Neurobiology of Disease, Vol 200, Iss , Pp 106609- (2024)
Background: Gastrointestinal dysfunction has emerged as a prominent early feature of Parkinson's Disease, shedding new light on the pivotal role of the enteric nervous system in its pathophysiology. However, the role of immune-cell clusters and infla
Externí odkaz:
https://doaj.org/article/c688d37c3fea47dd8fa89824a11f388d
Autor:
Nicola Vitturi, Livia Lenzini, Concetta Luisi, Miryam Carecchio, Giorgia Gugelmo, Francesco Francini‐Pesenti, Angelo Avogaro
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 48-51 (2021)
Abstract We report the case of a 22‐year‐old man with a diagnosis of dihydropteridine reductase (DHPR) deficiency who progressively developed movement disorders and epilepsy. Despite L‐Dopa supplementation the patient continued to show high pro
Externí odkaz:
https://doaj.org/article/63c13639999841ec97321e78fa369947
Autor:
Raquel Luis-Martínez, Roberto Di Marco, Luca Weis, Valeria Cianci, Francesca Pistonesi, Alfonc Baba, Miryam Carecchio, Roberta Biundo, Chiara Tedesco, Stefano Masiero, Angelo Antonini
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-8 (2021)
Abstract Background The consequences of strict COVID-19 mobility restrictions on motor/non-motor features in Parkinson’s disease (PD) have not been systematically studied but worse mobility and quality of life have been reported. To elucidate this
Externí odkaz:
https://doaj.org/article/99ee9c452c9b4ea6bc73d3ab69188c06
A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100830- (2022)
We report a novel pathogenic variant (c.223G > C; p.Gly75Arg) in the gene encoding the small mitoribosomal subunit protein mS34 in a long-surviving patient with Leigh Syndrome who was genetically diagnosed at age 34 years.The patient presented with d
Externí odkaz:
https://doaj.org/article/48ae9e9c9f2c4672b37a2118a8566ee9
Autor:
Davide Tonduti, Celeste Panteghini, Anna Pichiecchio, Alice Decio, Miryam Carecchio, Chiara Reale, Isabella Moroni, Nardo Nardocci, Jaume Campistol, Angela Garcia-Cazorla, Belen Perez Duenas, Cerebral Calcification International Study Group, Luisa Chiapparini, Barbara Garavaglia, Simona Orcesi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)
Abstract Background We present a group of patients affected by a paediatric onset genetic encephalopathy with cerebral calcification of unknown aetiology studied with Next Generation Sequencing (NGS) genetic analyses. Methods We collected all clinica
Externí odkaz:
https://doaj.org/article/11b85c2596e742bb992fba6b32048603
Autor:
Lucia Corrado, Fabiola De Marchi, Sara Tunesi, Gaia Donata Oggioni, Miryam Carecchio, Luca Magistrelli, Silvana Tesei, Giulio Riboldazzi, Alessio Di Fonzo, Clarissa Locci, Ilaria Trezzi, Roberta Zangaglia, Cristina Cereda, Sandra D’Alfonso, Corrado Magnani, Giacomo P. Comi, Giorgio Bono, Claudio Pacchetti, Roberto Cantello, Stefano Goldwurm, Cristoforo Comi
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
BackgroundAlpha-synuclein is a constituent of Lewy bodies and mutations of its gene cause familial Parkinson’s disease (PD). A previous study showed that a variant of the alpha-synuclein gene (SNCA), namely the 263 bp allele of Rep1 was associated
Externí odkaz:
https://doaj.org/article/774f3424aaa043409a9ea78888eb221a
Autor:
Mattia Fonderico, Michele Laudisi, Nico Golfrè Andreasi, Stefania Bigoni, Costanza Lamperti, Celeste Panteghini, Barbara Garavaglia, Miryam Carecchio, Elia Antonio Emanuele, Gian L. Forni, Enrico Granieri
Publikováno v:
Frontiers in Neurology, Vol 8 (2017)
Here, we report the case of a 36-year-old patient with a diagnosis of de novo mutation of the WDR45 gene, responsible for beta-propeller protein-associated neurodegeneration, a phenotypically distinct, X-linked dominant form of Neurodegeneration with
Externí odkaz:
https://doaj.org/article/44277e2fdfd44613a890ee91d122c60c
Publikováno v:
Journal of Immunology Research, Vol 2014 (2014)
Antiphospholipid syndrome (APS) is a multiorgan disease often affecting the central nervous system (CNS). Typically, neurological manifestations of APS include thrombosis of cerebral vessels leading to stroke and requiring prompt initiation of treatm
Externí odkaz:
https://doaj.org/article/75379bb293bc480e9f84646a1101631c
Autor:
Leonardi, Emanuela, Aspromonte, Maria Cristina, Drongitis, Denise, Bettella, Elisa, Verrillo, Lucia, Polli, Roberta, McEntagart, Meriel, Licchetta, Laura, Dilena, Robertino, D’Arrigo, Stefano, Ciaccio, Claudia, Esposito, Silvia, Leuzzi, Vincenzo, Torella, Annalaura, Baldo, Demetrio, Lonardo, Fortunato, Bonato, Giulia, Pellegrin, Serena, Stanzial, Franco, Posmyk, Renata, Kaczorowska, Ewa, Carecchio, Miryam, Gos, Monika, Rzońca-Niewczas, Sylwia, Miano, Maria Giuseppina, Murgia, Alessandra
Publikováno v:
European Journal of Human Genetics: EJHG; February 2023, Vol. 31 Issue: 2 p202-215, 14p
Publikováno v:
European Journal of Paediatric Neurology; Mar2018, Vol. 22 Issue 2, p257-263, 7p