Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Giulia Ursino"'
Autor:
Chiara Gemelli, Alessandro Geroldi, Sara Massucco, Lucia Trevisan, Ilaria Callegari, Lucio Marinelli, Giulia Ursino, Mehrnaz Hamedani, Giulia Mennella, Silvia Stara, Giovanni Maggi, Laura Mori, Cristina Schenone, Fabio Gotta, Serena Patrone, Alessia Mammi, Paola Origone, Valeria Prada, Lucilla Nobbio, Paola Mandich, Angelo Schenone, Emilia Bellone, Marina Grandis
Publikováno v:
Life, Vol 12, Iss 3, p 402 (2022)
Charcot–Marie–Tooth (CMT) disease is the most commonly inherited neurological disorder. This study includes patients affected by CMT during regular follow-ups at the CMT clinic in Genova, a neuromuscular university center in the northwest of Ital
Externí odkaz:
https://doaj.org/article/6a0ea7e07bf84bfa957c4bd6181b2c97
Autor:
Emilia Bellone, Antonia Alberti, Roberto Marotta, Valeria Prada, Giulia Ursino, Marina Grandis, Angelo Schenone, Paola Mandich, Mario Passalacqua, Ilaria Callegari, Simona Capponi
Publikováno v:
Neuropathology. 35:254-259
Our patient is a 65-year-old woman presenting with bilateral pes cavus, pronounced distal muscle wasting, weakness and areflexia. Electrophysiological findings included diffuse unrecordable motor and sensory responses. While the CMT phenotype was evi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f68fae5d228226f92100b92ff086721
https://doi.org/10.1111/neup.12179
https://doi.org/10.1111/neup.12179
Autor:
Emilia Bellone, Davide Pareyson, L. Reni, Giulia Ursino, Lucio Santoro, Marco Luigetti, Angelo Schenone, Laura Massollo, Chiara Pisciotta, M. Antonia Alberti, Chiara Gemelli, Marina Grandis, Mario Sabatelli
Publikováno v:
Neuromuscular disorders : NMD. 23(11)
Charcot–Marie–Tooth type 1A (CMT1A) is the most common inherited neuropathy. The phenotype of patients affected by CMT1A is highly variable and may be influenced by several conditions. We evaluated how comorbidities such as diabetes, hypothyroidi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d81f2faf9af060a566d9a0280c5e599
https://pubmed.ncbi.nlm.nih.gov/23891256
https://pubmed.ncbi.nlm.nih.gov/23891256
Autor:
L. Reni, Angelo Schenone, Paola Ciotti, I. Pezzini, Alessandro Geroldi, Emilia Bellone, Marina Grandis, Merit Lamp, Giulia Ursino, Rossella Gulli, Simona Capponi, Paola Mandich
Publikováno v:
European journal of neurology. 22(2)
Background and purpose Charcot−Marie−Tooth disease type 1X (CMT1X) is an X-linked dominant hereditary motor-sensory peripheral neuropathy, which results from mutations in the Gap Junction B1 (GJB1) gene. In a few cases, gene deletions have been l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae45b6a48c73684cdffac7703036d824
https://pubmed.ncbi.nlm.nih.gov/24724718
https://pubmed.ncbi.nlm.nih.gov/24724718
Inherited peripheral neuropathies are among the most common hereditary diseases of the nervous system. Charcot-Marie-Tooth (CMT) disease, also known from previous classifications as hereditary motor and sensory neuropathy (HMSN), is certainly the mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9115cefc9cd2cf5ca08fae647581e6ae
http://hdl.handle.net/11567/350895
http://hdl.handle.net/11567/350895
Publikováno v:
Journal of neurology. 257(Suppl 2)
Motor fluctuations and dyskinesias occur in the majority of patients with Parkinson’s disease (PD) and are likely to result from changes in dopamine production, storage and release, occurring as consequences of the nigrostriatal degenerative proces
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe6fdd44fdc0eef00cab57d203a4678a
https://pubmed.ncbi.nlm.nih.gov/21080194
https://pubmed.ncbi.nlm.nih.gov/21080194