Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)

Autor: Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo

Publikováno v: Cells, Vol 13, Iss 4, p 329 (2024)

Objective: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). Background: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and dystr

Externí odkaz: https://doaj.org/article/2885ad79e6d1491eb0ea11c7ce31409b

Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions

Autor: Maria Teresa Dotti, Nastasia Cardone, Ilaria Taglia, Antonio Federico, Alessandro Malandrini, Gabriele Siciliano, Patrizia Formichi, Michelangelo Mancuso, Costanza Simoncini, Annalisa Lo Gerfo, Simona Salvatore, V. Montano, Elena Cardaioli

Publikováno v: Neurological Sciences. 41:3653-3662

Diagnosis of mitochondrial diseases (MDs) is challenging, since they are multisystemic disorders, characterized by a heterogeneous symptomatology. Recently, an increase in serum levels of fibroblast growth factor 21 (FGF21) and growth differentiation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b560382bd6e4b5ed66f611cc620139d4
https://doi.org/10.1007/s10072-020-04422-5

Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization

Autor: Carla Battisti, Melissa Barghigiani, Patrizia Formichi, Alessandra Tessa, Antonio Federico, Ilaria Taglia, Giulia Peppoloni

Publikováno v: Journal of cellular physiology. 233(3)

Primary familial brain calcification (PFBC) is an autosomal dominant rare disorder characterized by bilateral and symmetric brain calcifications, and neuropsychiatric manifestations. Four genes have been linked to PFBC: SLC20A2, PDGFRB, PDGFB, and XP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acffea4922833387d29a0de92cf8ecf2
https://pubmed.ncbi.nlm.nih.gov/28722801

Primary cilium alterations and expression changes of Patched1 proteins in niemann-pick type C disease

Autor: Carla Battisti, Benedetta Rossi, Patrizia Formichi, Raffaella Guazzo, Ermelinda Tarquini, Elena Radi, Maria Margherita De Santi, Sergio Tripodi, Antonio Federico

Publikováno v: Journal of cellular physiology. 233(1)

Niemann-Pick type C disease (NPC) is a disorder characterized by abnormal intracellular accumulation of unesterified cholesterol and glycolipids. Two distinct disease-causing genes have been isolated, NPC1 and NPC2. The NPC1 protein is involved in th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed1d8c80dbd9520c5ee4b725f01bcef0
https://pubmed.ncbi.nlm.nih.gov/28332184

Operationalizing mild cognitive impairment criteria in small vessel disease: The VMCI-Tuscany Study

Autor: Antonio Giorgio, Stefano Magnolfi, Guido Gori, Laura Stromillo, Enza Zicari, Renato Galli, Patrizia Formichi, Emilia Salvadori, Francesca Cesari, Stefania Brotini, Roberto Marconi, Rossana Tassi, Alessandro Rossi, Luca Massacesi, Marco Vista, Serena Nannucci, Maria Boddi, Anna Maria Gori, Francesca Pescini, Veronica Caleri, Gloria Tognoni, Nicola De Stefano, Carlo Biagini, Renzo Cisbani, Sandro Marini, Stefania Boschi, Antonella Notarelli, Claudia Pozzi, Paola Vanni, Claudia Gambetti, Paolo Zolo, Carla Giorgi, Laura Bracco, Stefania Mugnai, Giovanni Pracucci, Tiziano Borgogni, Filippo Baldacci, Sandro Sorbi, Giuseppe Meucci, Domenico Inzitari, Giovanni Orlandi, Giovanna Bellini, Leonardo Pantoni, Ilaria Di Donato, Rosanna Abbate, Luciano Gabrielli, Laura Ciolli, Francesca Rossi, Francesco Pinto, Carlo Valente, Alberto Chiti, Ubaldo Bonuccelli, Cristina Frittelli, Gabriele Siciliano, Mario Mancuso, Massimo Cadelo, Antonio Federico, Gaetano Zaccara, Raffaella Valenti, Pasquale Palumbo, Stefano Bartolini, Paolo Cecchi, Stefano Diciotti, Andrea Ginestroni, Mario Mascalchi, Monica Mazzoni, Donatella Calvani, Luciano Gabbani, Anna Poggesi, Leonello Guidi, Maria Lombardi, Maristella Piccininni, Marco Paganini, Marco Pasi, Enrico Mossello, Alessandro Tiezzi, Mirco Cosottini, Mirella Coppo, Maria Teresa Dotti, E Bertini, Betti Giusti, Lorella Lambertucci, G Gambaccini, Cristina Pagni, Alessandra Del Bene

Introduction Mild cognitive impairment (MCI) prodromic of vascular dementia is expected to have a multidomain profile. Methods In a sample of cerebral small vessel disease (SVD) patients, we assessed MCI subtypes distributions according to different

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2be8e8add2bb19157d5193fdc65d37b
http://hdl.handle.net/11365/999405