Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)
Aguti, Sara, Gallus, Gian Nicola, Bianchi, Silvia, Salvatore, Simona, Rubegni, Anna, Berti, Gianna, Formichi, Patrizia, De Stefano, Nicola, Malandrini, Alessandro, Lopergolo, Diego
Published in Cells (Basel, Switzerland) (01.02.2024)
Published in Cells (Basel, Switzerland) (01.02.2024)
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Journal Article
CCDC78 : Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy
Lopergolo, Diego, Gallus, Gian Nicola, Pieraccini, Giuseppe, Boscaro, Francesca, Berti, Gianna, Serni, Giovanni, Volpi, Nila, Formichi, Patrizia, Bianchi, Silvia, Cassandrini, Denise, Sorrentino, Vincenzo, Rossi, Daniela, Santorelli, Filippo Maria, De Stefano, Nicola, Malandrini, Alessandro
Published in Cells (Basel, Switzerland) (08.09.2024)
Published in Cells (Basel, Switzerland) (08.09.2024)
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Journal Article
A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency
DA POZZO, Paola, CARDAIOLI, Elena, MALFATTI, Edoardo, NICOLA GALLUS, Gian, MALANDRINI, Alessandro, GAUDIANO, Carmen, BERTI, Gianna, INVERNIZZI, Federica, ZEVIANI, Massimo, FEDERICO, Antonio
Published in European journal of human genetics : EJHG (18.02.2009)
Published in European journal of human genetics : EJHG (18.02.2009)
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Journal Article
Mitochondria, oxidative stress and neurodegeneration
Federico, Antonio, Cardaioli, Elena, Da Pozzo, Paola, Formichi, Patrizia, Gallus, Gian Nicola, Radi, Elena
Published in Journal of the neurological sciences (15.11.2012)
Published in Journal of the neurological sciences (15.11.2012)
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Journal Article
Two novel HTRA1 mutations in a European CARASIL patient
Bianchi, Silvia, Di Palma, Chiara, Gallus, Gian Nicola, Taglia, Ilaria, Poggiani, Antonella, Rosini, Francesca, Rufa, Alessandra, Muresanu, Dafin Fior, Cerase, Alfonso, Dotti, Maria Teresa, Federico, Antonio
Published in Neurology (11.03.2014)
Published in Neurology (11.03.2014)
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Journal Article
Familial Alzheimer’s disease associated with heterozygous NPC1 mutation
Lopergolo, Diego, Bianchi, Silvia, Gallus, Gian Nicola, Locci, Sara, Pucci, Barbara, Leoni, Valerio, Gasparini, Daniele, Tardelli, Elisa, Chincarini, Andrea, Sestini, Stelvio, Santorelli, Filippo Maria, Zetterberg, Henrik, De Stefano, Nicola, Mignarri, Andrea
Published in Journal of medical genetics (21.11.2023)
Published in Journal of medical genetics (21.11.2023)
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Journal Article
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease
Di Donato, Ilaria, Bianchi, Silvia, Gallus, Gian Nicola, Cerase, Alfonso, Taglia, Ilaria, Pescini, Francesca, Nannucci, Serena, Battisti, Carla, Inzitari, Domenico, Pantoni, Leonardo, Zini, Andrea, Federico, Antonio, Dotti, Maria Teresa
Published in CNS neuroscience & therapeutics (01.09.2017)
Published in CNS neuroscience & therapeutics (01.09.2017)
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Journal Article
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis
Mignarri, Andrea, Magni, Alessandro, Del Puppo, Marina, Gallus, Gian Nicola, Björkhem, Ingemar, Federico, Antonio, Dotti, Maria Teresa
Published in Journal of inherited metabolic disease (01.01.2016)
Published in Journal of inherited metabolic disease (01.01.2016)
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Journal Article
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients
Da Pozzo, Paola, Cardaioli, Elena, Rubegni, Anna, Gallus, Gian Nicola, Malandrini, Alessandro, Rufa, Alessandra, Battisti, Carla, Carluccio, Maria Alessandra, Rocchi, Raffaele, Giannini, Fabio, Bianchi, Amedeo, Mancuso, Michelangelo, Siciliano, Gabriele, Dotti, Maria Teresa, Federico, Antonio
Published in Neurological sciences (01.04.2017)
Published in Neurological sciences (01.04.2017)
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Journal Article
Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene
Formichi, Patrizia, Radi, Elena, Giorgi, Eleonora, Gallus, Gian Nicola, Brunetti, Jlenia, Battisti, Carla, Rufa, Alessandra, Dotti, Maria Teresa, Franceschini, Rossella, Bracci, Luisa, Federico, Antonio
Published in Journal of the neurological sciences (15.04.2015)
Published in Journal of the neurological sciences (15.04.2015)
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Journal Article
The first deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL
Bianchi, Silvia, Dotti, Maria Teresa, Gallus, Gian Nicola, D'Eramo, Camilla, Di Donato, Ilaria, Bernardi, Livia, Maletta, Raffaele, Puccio, Gianfranco, Bruni, Amalia C, Federico, Antonio
Published in Neurobiology of aging (01.09.2013)
Published in Neurobiology of aging (01.09.2013)
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Journal Article
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?
Da Pozzo, Paola, Rubegni, Anna, Rufa, Alessandra, Cardaioli, Elena, Taglia, Ilaria, Gallus, Gian Nicola, Malandrini, Alessandro, Federico, Antonio
Published in Neurological sciences (01.09.2015)
Published in Neurological sciences (01.09.2015)
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Journal Article
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation
Cardaioli, Elena, Malfatti, Edoardo, Battisti, Carla, Da Pozzo, Paola, Rubegni, Anna, Gallus, Gian Nicola, Malandrini, Alessandro, Federico, Antonio
Published in Journal of the neurological sciences (15.10.2012)
Published in Journal of the neurological sciences (15.10.2012)
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Journal Article
Heterozygous mutations of HTRA 1 gene in patients with familial cerebral small vessel disease
Di Donato, Ilaria, Bianchi, Silvia, Gallus, Gian Nicola, Cerase, Alfonso, Taglia, Ilaria, Pescini, Francesca, Nannucci, Serena, Battisti, Carla, Inzitari, Domenico, Pantoni, Leonardo, Zini, Andrea, Federico, Antonio, Dotti, Maria Teresa
Published in CNS neuroscience & therapeutics (01.09.2017)
Published in CNS neuroscience & therapeutics (01.09.2017)
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Journal Article
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report
Ragno, Michele, Di Marzio, Fabio, Fuccio, Chiara, Pianese, Luigi, Cozzolino, Valeria, Carboni, Terenzio, Cinti, Antonio, D’Andreamatteo, Giordano, Trojano, Luigi, Mignarri, Andrea, Gallus, Gian Nicola, Dotti, Maria Teresa
Published in Clinical neurology and neurosurgery (01.12.2015)
Published in Clinical neurology and neurosurgery (01.12.2015)
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Journal Article
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency
Da Pozzo, Paola, Cardaioli, Elena, Malfatti, Edoardo, Gallus, Gian Nicola, Malandrini, Alessandro, Gaudiano, Carmen, Berti, Gianna, Invernizzi, Federica, Zeviani, Massimo, Federico, Antonio
Published in European journal of human genetics : EJHG (01.08.2009)
Published in European journal of human genetics : EJHG (01.08.2009)
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Journal Article
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy
Cardaioli, Elena, Sicurelli, Francesco, Carluccio, Maria Alessandra, Gallus, Gian Nicola, Da Pozzo, Paola, Mondelli, Mauro, Margollicci, Maria Antonietta, Micheli, Vanna, Federico, Antonio, Dotti, Maria Teresa
Published in Journal of neurology (2012)
Published in Journal of neurology (2012)
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