Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

Authors: Labrum, Robyn, Thomas-Black, Gilbert, Manso, Katarina, Solanky, Nita, Gellera, Cinzia, Mongelli, Alessia, Castaldo, Anna, Fichera, Mario, Palau, Francesc, O'Callaghan, Mar, Biet, Marie, Monin, Marie Lorraine, Eigentler, Andreas, Indelicato, Elisabetta, Amprosi, Matthias, Radelfahr, Florentine, Bischoff, Almut T., Holtbernd, Florian, Brcina, Nikolina, Hohenfeld, Christian, Koutsis, Georgios, Breza, Marianthi, Bertini, Enrico, Vasco, Gessica, Reetz, Kathrin ^{*, *}, Dogan, Imis ^*, Hilgers, Ralf-Dieter, Giunti, Paola, Parkinson, Michael H, Mariotti, Caterina, Nanetti, Lorenzo, Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera Garrido, Francisco Javier, Rummey, Christian, Schöls, Ludger, Hayer, Stefanie N, Klockgether, Thomas, Giordano, Ilaria, Didszun, Claire, Rai, Myriam, Pandolfo, Massimo, Schulz, Jörg B

Source: In The Lancet Neurology May 2021 20(5):362-372

Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages.

Authors: Fichera, Mario^1,2 (AUTHOR), Castaldo, Anna¹ (AUTHOR), Mongelli, Alessia¹ (AUTHOR), Marchini, Gloria¹ (AUTHOR), Gellera, Cinzia¹ (AUTHOR), Nanetti, Lorenzo¹ (AUTHOR) lorenzo.nanetti@istituto-besta.it, Mariotti, Caterina¹ (AUTHOR)

Source: Neurological Sciences. Dec2022, Vol. 43 Issue 12, p6831-6838. 8p. 2 Charts, 1 Graph.

Subject Terms: *DISEASE progression, *FRIEDREICH'S ataxia, *HALLUCINATIONS, *ATAXIA, *DISEASE duration, *ARRHYTHMIA, *BONE fractures

Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2.

Authors: Grisoli, Marina, Nigri, Anna, Medina Carrion, Jean Paul, Palermo, Sara, Demichelis, Greta, Giacosa, Chiara, Mongelli, Alessia, Fichera, Mario, Nanetti, Lorenzo, Mariotti, Caterina

Source: La Radiologia Medica; Aug2024, Vol. 129 Issue 8, p1215-1223, 9p

An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease.

Authors: Vancheri, Chiara, Quatrana, Andrea, Morini, Elena, Mariotti, Caterina, Mongelli, Alessia, Fichera, Mario, Rufini, Alessandra, Condò, Ivano, Testi, Roberto, Novelli, Giuseppe, Malisan, Florence, Amati, Francesca

Source: Human Genomics; 5/22/2024, Vol. 18 Issue 1, p1-12, 12p

Accelerometer-based measures in Friedreich ataxia: a longitudinal study on real-life activity.

Authors: Fichera, Mario, Nanetti, Lorenzo, Monelli, Alessia, Castaldo, Anna, Marchini, Gloria, Neri, Marianna, Vukaj, Xhuljano, Marzorati, Mauro, Porcelli, Simone, Mariotti, Caterina

Source: Frontiers in Pharmacology; 2024, p1-10, 10p

Subject Terms: ACCELEROMETERS, ATAXIA, PHYSICAL activity, LONGITUDINAL method, PHYSICAL measurements, WEARABLE technology

Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.

Authors: Sorrentino, Ugo, Romito, Luigi M., Garavaglia, Barbara, Fichera, Mario, Colangelo, Isabel, Prokisch, Holger, Winkelmann, Juliane, Necpal, Jan, Jech, Robert, Zech, Michael

Source: Tremor & Other Hyperkinetic Movements; 2024, Vol. 14 Issue 1, p1-9, 9p

Subject Terms: SPINOCEREBELLAR ataxia, NEUROLOGICAL disorders, GENETIC variation, MOVEMENT disorders, DYSTONIA

Interhemispheric Balance in Parkinson's Disease: A Transcranial Magnetic Stimulation Study

Authors: Spagnolo, Francesca, Coppi, Elisabetta, Chieffo, Raffaella, Straffi, Laura, Fichera, Mario, Nuara, Arturo, Gonzalez-Rosa, Javier, Martinelli, Vittorio, Comi, Giancarlo, Volontè, Maria Antonietta, Leocani, Letizia

Source: In Brain Stimulation November 2013 6(6):892-897

Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.

Authors: Porcu, Luca¹ (AUTHOR), Fichera, Mario² (AUTHOR), Nanetti, Lorenzo² (AUTHOR), Rulli, Eliana³ (AUTHOR), Giunti, Paola⁴ (AUTHOR), Parkinson, Michael H.⁴ (AUTHOR), Durr, Alexandra⁵ (AUTHOR), Ewenczyk, Claire⁵ (AUTHOR), Boesch, Sylvia⁶ (AUTHOR), Nachbauer, Wolfgang⁶ (AUTHOR), Indelicato, Elisabetta⁶ (AUTHOR), Klopstock, Thomas^7,8,9 (AUTHOR), Stendel, Claudia^7,8 (AUTHOR), Rodríguez de Rivera, Francisco Javier¹⁰ (AUTHOR), Schöls, Ludger^11,12 (AUTHOR), Fleszar, Zofia¹¹ (AUTHOR), Giordano, Ilaria¹³ (AUTHOR), Didszun, Claire¹⁴ (AUTHOR), Castaldo, Anna² (AUTHOR), Rai, Myriam¹⁵ (AUTHOR)

Source: Annals of Clinical & Translational Neurology. Nov2023, Vol. 10 Issue 11, p2000-2012. 13p.

Subject Terms: *AGE of onset, *ATAXIA, *DISEASE duration, *DISEASE progression, *STATISTICAL models

Italian cross-cultural adaptation of the patient-reported outcome measure of ataxia.

Authors: Castaldo, Anna, Farinotti, Mariangela, Fichera, Mario, Nanetti, Lorenzo, Fortuna, Filippo, Mariotti, Caterina, Solari, Alessandra

Source: Neurological Sciences; Aug2023, Vol. 44 Issue 8, p2773-2779, 7p, 2 Charts

Subject Terms: ITALIAN language, PATIENT experience, ATAXIA, CEREBELLAR ataxia, COGNITIVE interviewing

Flame retardancy mechanisms of bisphenol A bis(diphenyl phosphate) in combination with zinc borate in bisphenol A polycarbonate/acrylonitrile–butadiene–styrene blends

Authors: Pawlowski, Kristin H., Schartel, Bernhard, Fichera, Mario A., Jäger, Christian

Source: In Thermochimica Acta 2010 498(1):92-99

Complex Ataxia‐Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.

Authors: Nanetti, Lorenzo, Magri, Stefania, Fichera, Mario, Castaldo, Anna, Nigri, Anna, Pinardi, Chiara, Mongelli, Alessia, Sarro, Lidia, Pareyson, Davide, Grisoli, Marina, Gellera, Cinzia, Di Bella, Daniela, Mariotti, Caterina, Taroni, Franco

Source: Movement Disorders; Apr2023, Vol. 38 Issue 4, p665-675, 11p

Flame retardancy mechanisms of aluminium phosphinate in combination with melamine polyphosphate and zinc borate in glass-fibre reinforced polyamide 6,6

Authors: Braun, Ulrike, Schartel, Bernhard, Fichera, Mario A., Jäger, Christian

Source: In Polymer Degradation and Stability 2007 92(8):1528-1545

Prediction of the disease course in Friedreich ataxia.

Authors: Hohenfeld, Christian, Terstiege, Ulrich, Dogan, Imis, Giunti, Paola, Parkinson, Michael H., Mariotti, Caterina, Nanetti, Lorenzo, Fichera, Mario, Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera Garrido, Francisco Javier, Schöls, Ludger, Hayer, Stefanie N., Klockgether, Thomas, Giordano, Ilaria, Didszun, Claire

Source: Scientific Reports; 11/10/2022, Vol. 12 Issue 1, p1-12, 12p

Subject Terms: DISEASE progression, ATAXIA, SYMPTOMS, DECISION trees, PREDICTION models

N°234 – Multimodal evoked fields in Friedreich ataxia

Authors: Visani, Elisa, Duran, Dunja, Bonfoco, Deborah, Mariotti, Caterina, Fichera, Mario, Marchini, Gloria, Canafoglia, Laura

Source: In Clinical Neurophysiology June 2023 150:e147-e147

Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1.

Authors: Quatrana, Andrea, Morini, Elena, Tiano, Francesca, Vancheri, Chiara, Panarello, Luca, Romano, Silvia, Marcotulli, Christian, Casali, Carlo, Mariotti, Caterina, Mongelli, Alessia, Fichera, Mario, Rufini, Alessandra, Condò, Ivano, Novelli, Giuseppe, Testi, Roberto, Amati, Francesca, Malisan, Florence

Source: Human Molecular Genetics; 6/15/2022, Vol. 31 Issue 12, p2010-2022, 13p

Bi-hemispheric repetitive transcranial magnetic stimulation for upper limb motor recovery in chronic stroke: A feasibility study

Authors: Chieffo, Raffaella, Scopelliti, Giuseppe, Fichera, Mario, Santangelo, Roberto, Guerrieri, Simone, Zangen, Abraham, Comi, Giancarlo, Leocani, Letizia

Source: In Brain Stimulation July-August 2018 11(4):932-934

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.

Authors: Nanetti, Lorenzo, Di Bella, Daniela, Magri, Stefania, Fichera, Mario, Sarto, Elisa, Castaldo, Anna, Mongelli, Alessia, Baratta, Silvia, Fenu, Silvia, Moscatelli, Marco, Bonati, Maria Teresa, Martinuzzi, Andrea, Mariotti, Caterina, Taroni, Franco

Source: Frontiers in Neurology; 1/6/2022, Vol. 13, p1-11, 11p

Subject Terms: KALLMANN syndrome, GENETIC variation, JUVENILE diseases, SPINOCEREBELLAR ataxia, PITUITARY dwarfism, CEREBELLAR ataxia, PHENOTYPES

Which patients discontinue? Issues on Levodopa/carbidopa intestinal gel treatment: Italian multicentre survey of 905 patients with long-term follow-up

Authors: Aguggia, Marco, Amboni, Marianna, Arca, Roberta, Bartolomei, Luigi, Bonetto, Nicola, Calandra-Buonaura, Giovanna, Bove, Francesco, Calandrella, Daniela, Canesi, Margherita, Cannas, Antonino, Capecci, Marianna, Caputo, Elena, Ceravolo, Maria Gabriella, Ceravolo, Roberto, Cerrone, Gloria, Coletti Moja, Mario, Comi, Cristoforo, Cortelli, Pietro, D'Antonio, Paola, Dematteis, Francesca, Di Lazzaro, Vincenzo, Eleopra, Roberto, Fabbrini, Giovanni, Fichera, Mario, Grassi, Enrico, Guido, Marco, Gusmaroli, Graziano, Latorre, Anna, Malaguti, Maria Chiara, Marano, Massimo, Marano, Pietro, Marconi, Roberto, Mazzucchi, Sonia, Meco, Giuseppe, Minafra, Brigida, Morgante, Francesca, Pacchetti, Claudio, Pierantozzi, Mariangela, Pontieri, Francesco E., Riboldazzi, Giulio, Ricchi, Valeria, Ricchieri, Gianluigi, Rinaldo, Sara, Rispoli, Vittorio, Rossi, Simone, Rubino, Alfonso, Russo, Antonio, Saddi, Maria Valeria, Stefani, Alessandro, Simoni, Simone, Solla, Paolo, Tambasco, Nicola, Tamburin, Stefano, Tessitore, Alessandro, Torre, Elena, Ulivelli, Monica, Vita, Maria Gabriella, Volonté, Maria Antonietta, Sensi, Mariachiara, Cossu, Giovanni, Mancini, Francesca, Pilleri, Manuela, Zibetti, Maurizio, Modugno, Nicola, Quatrale, Rocco, Tamma, Filippo, Antonini, Angelo

Source: In Parkinsonism and Related Disorders May 2017 38:90-92

Bilateral Repetitive Transcranial Magnetic Stimulation With the H-Coil in Parkinson's Disease: A Randomized, Sham-Controlled Study.

Authors: Spagnolo, Francesca, Fichera, Mario, Chieffo, Raffaella, Dalla Costa, Gloria, Pisa, Marco, Volonté, Maria Antonietta, Falautano, Monica, Zangen, Abraham, Comi, Giancarlo, Leocani, Letizia

Source: Frontiers in Neurology; 2/18/2021, Vol. 11, pN.PAG-N.PAG, 8p

Subject Terms: TRANSCRANIAL magnetic stimulation, PARKINSON'S disease, SUBTHALAMIC nucleus, DRUG efficacy, TRANSCRANIAL direct current stimulation, INTERNATIONAL normalized ratio, NEUROPSYCHOLOGICAL tests, BRAIN stimulation

Bioconversion of Mono- and Sesquiterpenoids by Recombinant Human Cytochrome P450 Monooxygenases.

Authors: Julsing, Mattijs K.¹ (AUTHOR), Fichera, Mario A.² (AUTHOR), Malz, Frank² (AUTHOR), Ebbelaar, Monique¹ (AUTHOR), Bos, Rein¹ (AUTHOR), Woerdenbag, Herman J.¹ (AUTHOR), Quax, Wim J.¹ (AUTHOR), Kayser, Oliver¹ (AUTHOR) o.kayser@rug.nl

Source: Pharmaceutical Biology. Oct2008, Vol. 46 Issue 10/11, p710-718. 9p. 1 Diagram, 1 Chart, 1 Graph.

Subject Terms: *TERPENES, *MONOOXYGENASES, *BIOSYNTHESIS, *METABOLITES, *SESQUITERPENES