Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.

Autor: Strafella C; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Via Ardeatina 306-354, 00179, Rome, Italy., Megalizzi D; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Via Ardeatina 306-354, 00179, Rome, Italy.; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Via Montpellier 1, 00133, Rome, Italy., Trastulli G; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Via Ardeatina 306-354, 00179, Rome, Italy.; Department of System Medicine, Tor Vergata University of Rome, Via Montpellier 1, 00133, Rome, Italy., Proietti Piorgo E; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Via Ardeatina 306-354, 00179, Rome, Italy., Colantoni L; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Via Ardeatina 306-354, 00179, Rome, Italy., Tasca G; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, NE1 3BZ, UK., Monforte M; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy., Zampatti S; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Via Ardeatina 306-354, 00179, Rome, Italy., Primiano G; Neurofisiopathology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy., Sancricca C; Neurofisiopathology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy., Bortolani S; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy., Torchia E; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy., Ravera B; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy., Torri F; Department of Clinical and Experimental Medicine, University of Pisa, Via Roma 55, 56126, Pisa, Italy., Gadaleta G; Presidio Molinette e OIRM (SS Malattie Neuromuscolari e SC Neuropsichiatria Infantile), AOU Città della Salute e della Scienza di Torino, Corso Bramante 88, 10126, Turin, Italy., Risi B; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Via Paolo Richiedei, 16, 25064, Brescia, Italy., Caria F; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Via Paolo Richiedei, 16, 25064, Brescia, Italy., Gerardi F; The NEMO Center in Milan, Neurorehabilitation Unit,, University of Milan, ASST Niguarda Hospital, Piazza Dell'Ospedale Maggiore 3, 20161, Milan, Italy., Carraro E; The NEMO Center in Milan, Neurorehabilitation Unit,, University of Milan, ASST Niguarda Hospital, Piazza Dell'Ospedale Maggiore 3, 20161, Milan, Italy., Gioiosa V; Department of Medico-Surgical Sciences and Biotechnologies, University of Rome Sapienza, Corso Della Repubblica 79, 4100, Latina, Italy., Garibaldi M; Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, Via Di Grottarossa 1035-1039, 00189, Rome, Italy.; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, SAPIENZA University of Rome, Piazzale Aldo Moro 5, 00185, Rome, Italy., Tufano L; Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, Via Di Grottarossa 1035-1039, 00189, Rome, Italy.; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, SAPIENZA University of Rome, Piazzale Aldo Moro 5, 00185, Rome, Italy., Frezza E; Department of Systems Medicine, Neurology Unit, Tor Vergata University of Rome, Via Montpellier 1, 00133, Rome, Italy., Massa R; Department of Systems Medicine, Neurology Unit, Tor Vergata University of Rome, Via Montpellier 1, 00133, Rome, Italy., Caltagirone C; Department of Clinical and Behavioral Neurology, IRCCS Fondazione Santa Lucia, Via Ardeatina 306-354, 00179, Rome, Italy., Pennisi EM; UOC of Neurology, San Filippo Neri Hospital, Via Giovanni Martinotti 20, 00135, Rome, Italy., Petrucci A; Department of Neurology and Neurophysiopathology, Azienda Ospedaliera San Camillo Forlanini, Circonvallazione Gianicolense, 87, 00149, Rome, Italy., Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy.; Centro Clinico Nemo, Fondazione Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy., Frongia A; Centro Clinico Nemo, Fondazione Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy., Gragnani F; Neurology and Neurophysiopathology Unit, Sandro Pertini Hospital, Via Dei Monti Tiburtini 385, 00157, Rome, Italy., Scutifero M; Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Via Santa Maria Di Costantinopoli 16, 80138, Naples, Italy., Mandich P; IRCCS Ospedale Policlinico San Martino - UOC Genetica Medica, Largo R. Benzi 10, 16132, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genova, Largo Paolo Daneo 3, 16132, Genoa, Italy., Grandis M; IRCCS Ospedale Policlinico San Martino - UOC Genetica Medica, Largo R. Benzi 10, 16132, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genova, Largo Paolo Daneo 3, 16132, Genoa, Italy., Maioli MA; Centro Sclerosi Multipla, ASSL, Via Is Guadazzonis 2, P.O. Binaghi, 09126, Cagliari, Italy., Casali C; Department of Medico-Surgical Sciences and Biotechnologies, University of Rome Sapienza, Corso Della Repubblica 79, 4100, Latina, Italy., Manfroi E; Department of Neuroscience- Neurogenetics, Santa Maria Hospital, Viale Tristano Di Joannuccio, 05100, Terni, Italy., Politano L; Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Via Santa Maria Di Costantinopoli 16, 80138, Naples, Italy., Passamano L; Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Via Santa Maria Di Costantinopoli 16, 80138, Naples, Italy., Petillo R; Medical and Laboratory Genetics Unit, A.O.R.N. 'Antonio Cardarelli', Via A. Cardarelli 9, 80131, Naples, Italy., Rodolico C; Department of Clinical and Experimental Medicine, University of Messina, Piazza Pugliatti 1, 98122, Messina, Italy., Pugliese A; Department of Clinical and Experimental Medicine, University of Messina, Piazza Pugliatti 1, 98122, Messina, Italy., Previtali SC; Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina 60, 20132, Milan, Italy., Sansone V; The NEMO Center in Milan, Neurorehabilitation Unit,, University of Milan, ASST Niguarda Hospital, Piazza Dell'Ospedale Maggiore 3, 20161, Milan, Italy., Vercelli L; Presidio Molinette e OIRM (SS Malattie Neuromuscolari e SC Neuropsichiatria Infantile), AOU Città della Salute e della Scienza di Torino, Corso Bramante 88, 10126, Turin, Italy., Mongini TE; Presidio Molinette e OIRM (SS Malattie Neuromuscolari e SC Neuropsichiatria Infantile), AOU Città della Salute e della Scienza di Torino, Corso Bramante 88, 10126, Turin, Italy., Ricci G; Department of Clinical and Experimental Medicine, University of Pisa, Via Roma 55, 56126, Pisa, Italy., Siciliano G; Department of Clinical and Experimental Medicine, University of Pisa, Via Roma 55, 56126, Pisa, Italy., Filosto M; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Via Paolo Richiedei, 16, 25064, Brescia, Italy.; Department of Clinical and Experimental Sciences, University of Brescia, Viale Europa 11, 25123, Brescia, Italy., Ricci E; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy.; Istituto Di Neurologia, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy., Cascella R; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Via Ardeatina 306-354, 00179, Rome, Italy.; Department of Biomedical Sciences, Catholic University Our Lady of Good Counsel, Sheshi Nënë Tereza 4, 1010, Tiranë, Albania., Giardina E; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Via Ardeatina 306-354, 00179, Rome, Italy. emiliano.giardina@uniroma2.it.; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Via Montpellier 1, 00133, Rome, Italy. emiliano.giardina@uniroma2.it.

Publikováno v: Clinical epigenetics [Clin Epigenetics] 2024 Oct 22; Vol. 16 (1), pp. 148. Date of Electronic Publication: 2024 Oct 22.

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Autor: Trastulli G; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.; Department of Systems Medicine, Tor Vergata University, 00133 Rome, Italy., Megalizzi D; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.; Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy., Calvino G; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.; Department of Science, Roma Tre University, 00146 Rome, Italy., Andreucci S; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy., Zampatti S; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy., Strafella C; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy., Caltagirone C; Department of Clinical and Behavioral Neurology, IRCCS Fondazione Santa Lucia, 00179 Rome, Italy., Giardina E; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.; Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy., Cascella R; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.; Department of Chemical-Toxicological and Pharmacological Evaluation of Drugs, Catholic University Our Lady of Good Counsel, 1010 Tirana, Albania.

Publikováno v: Genes [Genes (Basel)] 2024 Sep 02; Vol. 15 (9). Date of Electronic Publication: 2024 Sep 02.

Structure-Toxicity Relationship in Intermediate Fibrils from α-Synuclein Condensates.

Autor: Chen SW; Department of Life Sciences, Imperial College London, London SW7 2AZ, U.K., Barritt JD; Department of Life Sciences, Imperial College London, London SW7 2AZ, U.K., Cascella R; Department of Experimental and Clinical Biomedical Sciences, Section of Biochemistry, University of Florence, Florence 50134, Italy., Bigi A; Department of Experimental and Clinical Biomedical Sciences, Section of Biochemistry, University of Florence, Florence 50134, Italy., Cecchi C; Department of Experimental and Clinical Biomedical Sciences, Section of Biochemistry, University of Florence, Florence 50134, Italy., Banchelli M; Institute of Applied Physics 'Nello Carrara' National Research Council of Italy, Sesto Fiorentino, Florence 50019, Italy., Gallo A; Department of Chemistry, University of Turin, Turin 10124, Italy., Jarvis JA; Department of Life Sciences, Imperial College London, London SW7 2AZ, U.K.; Randall Centre for Cell and Molecular Biophysics and Centre for Biomolecular Spectroscopy, King's College London, London SE1 9RT, U.K., Chiti F; Department of Experimental and Clinical Biomedical Sciences, Section of Biochemistry, University of Florence, Florence 50134, Italy., Dobson CM; Department of Chemistry, University of Cambridge, Cambridge CB2 1EW, U.K., Fusco G; Department of Chemistry, University of Cambridge, Cambridge CB2 1EW, U.K.; Department of Pharmacy, University of Naples, Naples 80131, Italy., De Simone A; Department of Life Sciences, Imperial College London, London SW7 2AZ, U.K.; Department of Pharmacy, University of Naples, Naples 80131, Italy.

Publikováno v: Journal of the American Chemical Society [J Am Chem Soc] 2024 Apr 17; Vol. 146 (15), pp. 10537-10549. Date of Electronic Publication: 2024 Apr 03.

Putative novel CSF biomarkers of Alzheimer's disease based on the novel concept of generic protein misfolding and proteotoxicity: the PRAMA cohort.

Autor: Bigi A; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Section of Biochemistry, University of Florence, Viale Morgagni 50, 50134, Florence, Italy., Fani G; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Section of Biochemistry, University of Florence, Viale Morgagni 50, 50134, Florence, Italy., Bessi V; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Azienda Ospedaliero-Universitaria Careggi. Largo Brambilla, 3, 50134, Florence, Italy., Napolitano L; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Section of Biochemistry, University of Florence, Viale Morgagni 50, 50134, Florence, Italy., Bagnoli S; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Azienda Ospedaliero-Universitaria Careggi. Largo Brambilla, 3, 50134, Florence, Italy., Ingannato A; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Azienda Ospedaliero-Universitaria Careggi. Largo Brambilla, 3, 50134, Florence, Italy., Neri L; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Section of Biochemistry, University of Florence, Viale Morgagni 50, 50134, Florence, Italy., Cascella R; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Section of Biochemistry, University of Florence, Viale Morgagni 50, 50134, Florence, Italy., Matteini P; Institute of Applied Physics 'Nello Carrara', National Research Council, 50019, Sesto Fiorentino, Italy., Sorbi S; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Azienda Ospedaliero-Universitaria Careggi. Largo Brambilla, 3, 50134, Florence, Italy.; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy., Nacmias B; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Azienda Ospedaliero-Universitaria Careggi. Largo Brambilla, 3, 50134, Florence, Italy.; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy., Cecchi C; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Section of Biochemistry, University of Florence, Viale Morgagni 50, 50134, Florence, Italy. cristina.cecchi@unifi.it., Chiti F; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Section of Biochemistry, University of Florence, Viale Morgagni 50, 50134, Florence, Italy. fabrizio.chiti@unifi.it.

Publikováno v: Translational neurodegeneration [Transl Neurodegener] 2024 Mar 08; Vol. 13 (1), pp. 14. Date of Electronic Publication: 2024 Mar 08.

Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level.

Autor: Megalizzi D; Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, Rome, Italy.; Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy., Trastulli G; Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, Rome, Italy., Caputo V; Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, Rome, Italy., Colantoni L; Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, Rome, Italy., Caltagirone C; Department of Clinical and Behavioral Neurology, Santa Lucia Foundation IRCCS, Rome, Italy., Strafella C; Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, Rome, Italy., Cascella R; Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, Rome, Italy.; Department of Biomedical Sciences, Catholic University Our Lady of Good Counsel, Tirana, Albania., Giardina E; Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, Rome, Italy.; Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy.

Publikováno v: Electrophoresis [Electrophoresis] 2023 Oct; Vol. 44 (19-20), pp. 1588-1594. Date of Electronic Publication: 2023 Aug 11.