Zobrazeno 1 - 10
of 205
pro vyhledávání: '"Barbara Garavaglia"'
Autor:
Matteo Gastaldi, Diego Franciotta, Mario Cirillo, Sara Prioni, Micol Avenali, Fabrizio Esposito, Chiara Reale, Valentina Leta, Enza Maria Valente, Anna Pichiecchio, Barbara Garavaglia, Roberto Eleopra, Marina Grisoli, Roberto Cilia, Luigi Romito, Maria Grazia Bruzzone, Alessandro Tessitore, Ilaria Palmieri, Giada Cuconato, Fabiana Colucci, Pierfrancesco Mitrotti, Rosita De Micco, Marco Fusar Poli, Silvia Cerri, Mario Stanziano, Ana Bacila, Valentina Franco, Cristina Ghezzi, Antonio Emanuele Elia, Grazia Devigili, Nico Golfrè Andreasi, Federico Cazzaniga, Caterina Galandra, Giancarlo Germani, Gerardo Ongari, Marta Picascia, Mattia Verri, Federica Di Nardo, Simone Aloisio, Mattia Siciliano, Paolo Amami, Sylvie Piacentini, Fabio Moda
Publikováno v:
BMJ Neurology Open, Vol 5, Iss 2 (2023)
Background Heterozygous mutations in the GBA gene, encoding the lysosomal enzyme β-glucocerebrosidase (GCase), are the most frequent genetic risk factor for Parkinson’s disease (PD). GBA-related PD (GBA-PD) patients have higher risk of dementia an
Externí odkaz:
https://doaj.org/article/f4439946eac245c38832074e55e2c953
Autor:
Eleonora Bonaventura, Rita Barone, Luisa Sturiale, Rosa Pasquariello, Maria Grazia Alessandrì, Anna Maria Pinto, Alessandra Renieri, Celeste Panteghini, Barbara Garavaglia, Giovanni Cioni, Roberta Battini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background SLC39A8, a gene located on chromosome 4q24, encodes for the manganese (Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of glycosylation (CDG). The common SLC39A8 missense variant A391T is assoc
Externí odkaz:
https://doaj.org/article/975b0a9e6e2a4e7b988703318d74402a
Autor:
Stefania Scarlini, Francesco Cavallieri, Massimo Fiorini, Elisa Menozzi, Francesca Ferrara, Francesca Cavalleri, Chiara Reale, Barbara Garavaglia, Antonello Pietrangelo, Franco Valzania, Elena Corradini
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-5 (2020)
Abstract Background Detection of brain-MRI T2/T2* gradient echo images (T2*GRE)-hypointensity can be compatible with iron accumulation and leads to a differential diagnosis work-up including neurodegeneration with brain iron accumulation (NBIA) and W
Externí odkaz:
https://doaj.org/article/7d446107f3444e1798cdcc44b05cada3
Autor:
Mohamed Taha Moutaoufik, Ramy Malty, Shahreen Amin, Qingzhou Zhang, Sadhna Phanse, Alla Gagarinova, Mara Zilocchi, Larissa Hoell, Zoran Minic, Maria Gagarinova, Hiroyuki Aoki, Jocelyn Stockwell, Matthew Jessulat, Florian Goebels, Kirsten Broderick, Nichollas E. Scott, James Vlasblom, Gabriel Musso, Bhanu Prasad, Eleonora Lamantea, Barbara Garavaglia, Alex Rajput, Kei Murayama, Yasushi Okazaki, Leonard J. Foster, Gary D. Bader, Francisco S. Cayabyab, Mohan Babu
Publikováno v:
iScience, Vol 19, Iss , Pp 1114-1132 (2019)
Summary: Mitochondrial protein (MP) assemblies undergo alterations during neurogenesis, a complex process vital in brain homeostasis and disease. Yet which MP assemblies remodel during differentiation remains unclear. Here, using mass spectrometry-ba
Externí odkaz:
https://doaj.org/article/c6301e8c20a347908830d745496bf253
Autor:
Federica Rachele Danti, Federica Invernizzi, Isabella Moroni, Barbara Garavaglia, Nardo Nardocci, Giovanna Zorzi
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Paroxysmal exercise-induced neurological symptoms (PENS) encompass a wide spectrum of clinical phenomena commonly presenting during childhood and characteristically elicited by physical exercise. Interestingly, few shared pathogenetic mechanisms have
Externí odkaz:
https://doaj.org/article/ab32dcdb82414658b62c83c1f0f921f8
Autor:
Mara Zilocchi, Ilaria Colugnat, Marta Lualdi, Monica Meduri, Federica Marini, Victor Corasolla Carregari, Mohamed Taha Moutaoufik, Sadhna Phanse, Luisa Pieroni, Mohan Babu, Barbara Garavaglia, Mauro Fasano, Tiziana Alberio
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Mutations in PARK2 gene are the most frequent cause of familial forms of Parkinson’s disease (PD). This gene encodes Parkin, an E3 ubiquitin ligase involved in several cellular mechanisms, including mitophagy. Parkin loss-of-function is responsible
Externí odkaz:
https://doaj.org/article/51ceb95f2cac41d79ea02df87249d100
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:
Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been repo
Externí odkaz:
https://doaj.org/article/ffaf962b9ce84aa0a9b15b3548ddc11f
Autor:
Lamperti, Federica Invernizzi, Rossella Izzo, Isabel Colangelo, Andrea Legati, Nadia Zanetti, Barbara Garavaglia, Eleonora Lamantea, Lorenzo Peverelli, Anna Ardissone, Isabella Moroni, Lorenzo Maggi, Silvia Bonanno, Laura Fiori, Daniele Velardo, Francesca Magri, Giacomo P. Comi, Dario Ronchi, Daniele Ghezzi, Costanza
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1393
Introduction/Aims HyperCKemia is considered a hallmark of neuromuscular diseases. It can be either isolated or associated with cramps, myalgia, weakness, myoglobinuria, or rhabdomyolysis, suggesting a metabolic myopathy. The aim of this work was to i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::9336b719fee2fcefc1d6d9ac45fd1d42
Autor:
Chiara Reale, Valeria Tessarollo, Sara Bulgheroni, Silvia Annunziata, Andrea Legati, Daria Riva, Chiara Pantaleoni, Barbara Garavaglia, Stefano D’Arrigo
Publikováno v:
Applied Sciences, Vol 11, Iss 17, p 8096 (2021)
Many studies based on chromosomal microarray and next-generation sequencing (NGS) have identified hundreds of genes associated with autism spectrum disorder (ASD) risk, demonstrating that there are several complex genetic factors that contribute to A
Externí odkaz:
https://doaj.org/article/4ac7937c687b4a149435a9f9029e9d2e