Review
Medicine, General & Internal
Phepy G. A. Dawod, Jasna Jancic, Ana Marjanovic, Marija Brankovic, Milena Jankovic, Janko Samardzic, Ayman Gamil Anwar Dawod, Ivana Novakovic, Fayda I. Abdel Motaleb, Vladimir Radlovic, Vladimir S. Kostic, Dejan Nikolic
Summary: Mitochondrial encephalomyopathies (MEMP) are complex disorders associated with mitochondrial DNA (mtDNA) mutations. This study conducted genetic analysis on Serbian children and identified known pathogenic mutations in two cases. The research suggests that certain haplogroups may be associated with phenotypic variability in patients with mitochondrial encephalomyopathies.
Article
Genetics & Heredity
Arianna Manini, Leonardo Caporali, Megi Meneri, Simona Zanotti, Daniela Piga, Ignazio Giuseppe Arena, Stefania Corti, Antonio Toscano, Giacomo Pietro Comi, Olimpia Musumeci, Valerio Carelli, Dario Ronchi
Summary: This article describes two cases of mitochondrial DNA maintenance disorders characterized by progressive external ophthalmoplegia, ptosis, and muscle weakness. Sequencing analysis revealed different mutations in the RNASEH1 gene in these patients.
FRONTIERS IN GENETICS
(2022)
Review
Biochemistry & Molecular Biology
Vincenzo Tragni, Guido Primiano, Albina Tummolo, Lucas Cafferati Beltrame, Gianluigi La Piana, Maria Noemi Sgobba, Maria Maddalena Cavalluzzi, Giulia Paterno, Ruggiero Gorgoglione, Mariateresa Volpicella, Lorenzo Guerra, Domenico Marzulli, Serenella Servidei, Anna De Grassi, Giuseppe Petrosillo, Giovanni Lentini, Ciro Leonardo Pierri
Summary: Mitochondrial diseases result from mutations affecting nuclear or mitochondrial genes, and there is no specific therapy available for complete recovery. Symptomatic treatments using antioxidant cocktails and drugs are commonly used, but their effectiveness needs to be scientifically demonstrated.
Article
Cardiac & Cardiovascular Systems
Alberto Giannoni, Alberto Aimo, Michelangelo Mancuso, Massimo Francesco Piepoli, Daniele Orsucci, Giovanni Donato Aquaro, Andrea Barison, Daniele De Marchi, Claudia Taddei, Matteo Cameli, Valentina Raglianti, Gabriele Siciliano, Claudio Passino, Michele Emdin
EUROPEAN JOURNAL OF HEART FAILURE
(2017)
Article
Clinical Neurology
D. Orsucci, C. Angelini, E. Bertini, V. Carelli, G. P. Comi, A. Federico, C. Minetti, M. Moggio, T. Mongini, F. M. Santorelli, S. Servidei, P. Tonin, A. Ardissone, L. Bello, C. Bruno, E. Caldarazzo Ienco, D. Diodato, M. Filosto, C. Lamperti, I. Moroni, O. Musumeci, E. Pegoraro, G. Primiano, D. Ronchi, A. Rubegni, S. Salvatore, M. Sciacco, M. L. Valentino, L. Vercelli, A. Toscano, M. Zeviani, G. Siciliano, M. Mancuso
JOURNAL OF NEUROLOGY
(2017)
Editorial Material
Medicine, General & Internal
Daniele Orsucci, Gabriele Siciliano, Michelangelo Mancuso
Article
Clinical Neurology
Olimpia Musumeci, Emanuele Barca, Costanza Lamperti, Serenella Servidei, Giacomo Pietro Comi, Maurizio Moggio, Tiziana Mongini, Gabriele Siciliano, Massimiliano Filosto, Elena Pegoraro, Guido Primiano, Dario Ronchi, Liliana Vercelli, Daniele Orsucci, Luca Bello, Massimo Zeviani, Michelangelo Mancuso, Antonio Toscano
FRONTIERS IN NEUROLOGY
(2019)
Letter
Clinical Neurology
Daniele Orsucci, Gianluca Moscato, Vincenzo Ricci, Stefano Galletti, Marco Vista
NEUROLOGICAL SCIENCES
(2021)
Article
Medicine, General & Internal
Daniele Orsucci, Michele Trezzi, Roberto Anichini, Pierluigi Blanc, Leandro Barontini, Carlo Biagini, Alessandro Capitanini, Marco Comeglio, Paulo Corsini, Federico Gemignani, Roberto Giannecchini, Massimo Giusti, Mario Lombardi, Elena Marrucci, Alessandro Natali, Gabriele Nenci, Franco Vannucci, Gino Volpi
Summary: The study showed that serum levels of the muscular enzyme creatine-(phospho)-kinase (CK/CPK) in COVID-19 patients at admission were associated with disease severity, with hyperCKemia >200 U/L linked to worse prognosis. The elevated CK levels acted as an independent predictor for severe outcomes; however, hyperCKemia was generally transient and returned to normal during hospitalization in most patients. While direct infection of voluntary muscle by the novel coronavirus remains unproven, transient muscular dysfunction is common during the course of COVID-19.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Chiara Ticci, Daniele Orsucci, Anna Ardissone, Luca Bello, Enrico Bertini, Irene Bonato, Claudio Bruno, Valerio Carelli, Daria Diodato, Stefano Doccini, Maria Alice Donati, Claudia Dosi, Massimiliano Filosto, Chiara Fiorillo, Chiara La Morgia, Costanza Lamperti, Silvia Marchet, Diego Martinelli, Carlo Minetti, Maurizio Moggio, Tiziana Enrica Mongini, Vincenzo Montano, Isabella Moroni, Olimpia Musumeci, Elia Pancheri, Elena Pegoraro, Guido Primiano, Elena Procopio, Anna Rubegni, Roberta Scalise, Monica Sciacco, Serenella Servidei, Gabriele Siciliano, Costanza Simoncini, Deborah Tolomeo, Paola Tonin, Antonio Toscano, Flavia Tubili, Michelangelo Mancuso, Roberta Battini, Filippo Maria Santorelli
Summary: Movement disorders are increasingly recognized as a manifestation of childhood-onset mitochondrial diseases. This study retrospectively explored a cohort of individuals with childhood-onset MDs and found that most patients experienced a worsening of their movement disorder during the disease course. The most commonly associated neuroradiological patterns included basal ganglia involvement, cerebral white matter changes, and cerebellar atrophy. Genetic mutations were diverse, and pharmacological treatment mainly involved clonazepam and oral baclofen.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Deborah Tolomeo, Daniele Orsucci, Claudia Nesti, Jacopo Baldacci, Roberta Battini, Claudio Bruno, Giorgia Bruno, Denise Cassandrini, Stefano Doccini, M. Alice Donati, Annarita Ferrari, Simona Fiori, Chiara Fiorillo, Renzo Guerrini, Francesco Mari, Martino Montomoli, Francesca Pochiero, Elena Procopio, Lucia Ruggiero, Simone Sampaolo, Federico Sicca, Chiara Ticci, Anna Rubegni, Filippo M. Santorelli
Summary: Mitochondrial diseases (MDs) are a group of genetically determined multisystem disorders characterized by diagnostic challenges and a lack of genetic studies. Neuroimaging evidence of basal ganglia (BG) involvement and psychomotor regression are important predictors for diagnosing MD.
JOURNAL OF CLINICAL MEDICINE
(2021)
Editorial Material
Medicine, General & Internal
Daniele Orsucci
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Medicine, General & Internal
Daniele Orsucci, Lucia Lorenzetti, Fulvia Baldinotti, Andrea Rossi, Edoardo Vitolo, Fabio Luigi Gheri, Alessandro Napolitano, Giancarlo Tintori, Marco Vista
Summary: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by a premutation in the FMR1 gene. In females, FXTAS has a broad spectrum of symptoms ranging from relatively severe cases starting in mid-adulthood to mild cases beginning in later life.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, Research & Experimental
Antonella Bacchieri, Andrea Rossi, Paolo Morelli
CONTEMPORARY CLINICAL TRIALS COMMUNICATIONS
(2020)
Article
Neurosciences
Bruno Dubois, Alessandro Padovani, Philip Scheltens, Andrea Rossi, Grazia Dell'Agnello
JOURNAL OF ALZHEIMERS DISEASE
(2016)