Genetic and clinical study of PARK7 in Japanese Parkinson's disease

Authors: Ishiguro, Mayu ^a, Funayama, Manabu ^{a, b, c, ⁎}, Hatano, Taku ^a, Nishida, Hiroshi ^d, Wada, Yuko ^e, Noda, Kazuyuki ^f, Tomiyama, Masahiko ^g, Yoshino, Hiroyo ^b, Li, Yuanzhe ^{a, h}, Ong, Stephanie ^{a, c}, Cioffi, Ettore ^{a, 1}, Nishioka, Kenya ^{a, i}, Hattori, Nobutaka ^{a, b, c, h, j, ⁎⁎}

Source: In Heliyon 15 August 2024 10(15)

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.

Authors: Cioffi, Ettore¹ (AUTHOR) ettore.cioffi@uniroma1.it, Gioiosa, Valeria¹ (AUTHOR), Tessa, Alessandra² (AUTHOR), Petrucci, Antonio³ (AUTHOR), Trovato, Rosanna² (AUTHOR), Santorelli, Filippo Maria² (AUTHOR), Casali, Carlo¹ (AUTHOR)

Source: Neurological Sciences. Aug2024, Vol. 45 Issue 8, p3845-3852. 8p.

Subject Terms: *GENETIC variation, *PHENOTYPIC plasticity, *CENTRAL nervous system diseases, *AMYOTROPHIC lateral sclerosis, *GENETIC testing, *FAMILIAL spastic paraplegia, *MOLECULAR diagnosis, *VIRAL shedding, *PARAPARESIS

The Effect of a Wearable Assistive Trunk Exoskeleton on the Motor Coordination of People with Cerebellar Ataxia.

Authors: Tatarelli, Antonella^1,2, g.chini@inail.itantonellatatarelli@gmail.com, Babič, Jan³, jan.babic@ijs.si, Casali, Carlo⁴, carlo.casali@uniroma1.it, Castiglia, Stefano Filippo^4,5, stefanofilippo.castiglia@uniroma1.it, Chini, Giorgia², lorenzo.fiori@uniroma1.it, Ciancia, Rosanna⁶, rciancia@cro.it, Cioffi, Ettore^1,4, mariano.serrao@uniroma1.itettore.cioffi@uniroma1.it, Fiori, Lorenzo^2,7, a.ranavolo@inail.it, Michieli, Mariagrazia⁶, mmichieli@cro.it, Montante, Barbara⁶, barbara.montante@cro.it, Serrao, Mariano⁴, Varrecchia, Tiwana², t.varrecchia@inail.it, Ranavolo, Alberto²

Source: Applied Sciences (2076-3417); Aug2024, Vol. 14 Issue 15, p6537, 16p

A 1-month ketogenic diet in patients with migraine gives a clinical beneficial effect associated with increased latency of somatosensory thalamo-cortical activity

Authors: Abagnale, Chiara, Sebastianelli, Gabriele, Casillo, Francesco, Di Renzo, Antonio, Parisi, Vincenzo, Cioffi, Ettore, Serrao, Mariano, Schoenen, Jean, Coppola, Gianluca, Di Lorenzo, Cherubino

Source: In Clinical Neurophysiology Practice 2024 9:292-298

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Authors: Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Coarelli, Giulia, Mariotti, Caterina, Faber, Jennifer, Van Gaalen, Judith, Damasio, Joana, Fleszar, Zofia, Tosi, Michele, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M., Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A.J., Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T., Ristori, Giovanni, Blumkin, Lubov, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Brice, Alexis, Durr, Alexandra

Source: American journal of human genetics. 110(7):1098-1109

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194017965.0x000001&indx=1&recIds=ETOCvdc_100194017965.0x000001

New cellular imaging‐based method to distinguish the SPG4 subtype of hereditary spastic paraplegia

Authors: Sardina, Francesca, Valente, Davide, Fattorini, Gaia, Cioffi, Ettore, Zanna, Gianmarco Dalla, Tessa, Alessandra, Trisciuoglio, Daniela, Soddu, Silvia, Santorelli, Filippo M., Casali, Carlo, Rinaldo, Cinzia

Source: European journal of neurology. 30(6):1734-1744

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185009769.0x000001&indx=1&recIds=ETOCvdc_100185009769.0x000001

A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy

Authors: Romano, Silvia, Bacigalupo, Ilaria, Marcotulli, Christian, Cioffi, Ettore, Bertini, Enrico Silvio, Vasco, Gessica, Perna, Alessia, Petrucci, Antonio, Massa, Roberto, Frezza, Erica, Romano, Carmela, Salvetti, Marco, Ristori, Giovanni, Silvestri, Gabriella, Vanacore, Nicola, Casali, Carlo

Source: Neuroepidemiology. 56(3):212-218

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100157065594.0x000001&indx=1&recIds=ETOCvdc_100157065594.0x000001

Motor dysfunction in mild cognitive impairment as tested by kinematic analysis and transcranial magnetic stimulation

Authors: Colella, Donato, Guerra, Andrea, Paparella, Giulia, Cioffi, Ettore, Di Vita, Antonella, Trebbastoni, Alessandro, Berardelli, Alfredo, Bologna, Matteo

Source: In Clinical Neurophysiology February 2021 132(2):315-322

A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21

Authors: Riso, Vittorio, Galatolo, Daniele, Barghigiani, Melissa, Galosi, Serena, Tessa, Alessandra, Ricca, Ivana, Rossi, Salvatore, Caputi, Caterina, Cioffi, Ettore, Leuzzi, Vincenzo, Casali, Carlo, Santorelli, Filippo M., Silvestri, Gabriella

Source: European journal of neurology. 28(8):2784-2788

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123835142.0x000001&indx=1&recIds=ETOCvdc_100123835142.0x000001

Bradykinesia in Alzheimer’s disease and its neurophysiological substrates

Authors: Bologna, Matteo, Guerra, Andrea, Colella, Donato, Cioffi, Ettore, Paparella, Giulia, Di Vita, Antonella, D'Antonio, Fabrizia, Trebbastoni, Alessandro, Berardelli, Alfredo

Source: In Clinical Neurophysiology April 2020 131(4):850-858

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4

Authors: Rossi, Salvatore, Rubegni, Anna, Riso, Vittorio, Barghigiani, Melissa, Bassi, Maria Teresa, Battini, Roberta, Bertini, Enrico, Cereda, Cristina, Cioffi, Ettore, Criscuolo, Chiara, Dal Fabbro, Beatrice, Dato, Clemente, D'Angelo, Maria Grazia, Di Muzio, Antonio, Diamanti, Luca, Dotti, Maria Teresa, Filla, Alessandro, Gioiosa, Valeria, Liguori, Rocco, Martinuzzi, Andrea, Massa, Roberto, Mignarri, Andrea, Moroni, Rossana, Musumeci, Olimpia, Nicita, Francesco, Orologio, Ilaria, Orsi, Laura, Pegoraro, Elena, Petrucci, Antonio, Plumari, Massimo, Ricca, Ivana, Rizzo, Giovanni, Romano, Silvia, Rumore, Roberto, Sampaolo, Simone, Scarlato, Marina, Seri, Marco, Stefan, Cristina, Straccia, Giulia, Tessa, Alessandra, Travaglini, Lorena, Trovato, Rosanna, Ulgheri, Lucia, Vazza, Giovanni, Orlacchio, Antonio, Silvestri, Gabriella, Santorelli, Filippo Maria, Melone, Mariarosa Anna Beatrice, Casali, Carlo

Source: Neurology.Genetics. 8(2)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153598135.0x000001&indx=1&recIds=ETOCvdc_100153598135.0x000001

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.

Authors: Cioffi, Ettore, Coppola, Gianluca, Musumeci, Olimpia, Gallone, Salvatore, Silvestri, Gabriella, Rossi, Salvatore, Piemonte, Fiorella, D'Amico, Jessica, Tessa, Alessandra, Santorelli, Filippo Maria, Casali, Carlo

Source: Neurogenetics; Apr2024, Vol. 25 Issue 2, p51-67, 17p

Subject Terms: CENTRAL nervous system diseases, FAMILIAL spastic paraplegia, CEREBELLAR ataxia, MOTOR neurons, GENETIC testing, PARAPARESIS

Geographic Terms: ITALY

Effects of transcranial ultrasound stimulation on trigeminal blink reflex excitability

Authors: Colella, Donato, Guerra, Andrea, Vicenzini, Edoardo, Cioffi, Ettore, Cannavacciuolo, Antonio, Pozzi, Silvia, Caccia, Barbara, Paparella, Giulia, Di Stefano, Giulia, Berardelli, Alfredo, Bologna, Matteo

Source: Journal of the neurological sciences. 429(S)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100155631936.0x000001&indx=1&recIds=ETOCvdc_100155631936.0x000001

N°134 – Nerve ultrasound findings in Friedreich's Ataxia

Authors: Di Pietro, Giuseppe, Cioffi, Ettore, Falco, Pietro, Perotti, Stefano, Martinez, Valentina, Casali, Carlo, Truini, Andrea

Source: Clinical neurophysiology. 150:e115-e115

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190280158.0x000001&indx=1&recIds=ETOCvdc_100190280158.0x000001

Reversible conduction block of peroneal nerve associated with SARS-CoV-2.

Authors: Cioffi, Ettore¹ (AUTHOR) ettore.cioffi@uniroma1.it, Dilenola, Davide¹ (AUTHOR), Iuliano, Luigi¹ (AUTHOR), Polidoro, Alessandro¹ (AUTHOR), Casali, Carlo¹ (AUTHOR), Serrao, Mariano¹ (AUTHOR)

Source: Neurological Sciences. Jan2022, Vol. 43 Issue 1, p95-97. 3p. 1 Chart, 1 Graph.

Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.

Authors: Galatolo, Daniele, Trovato, Rosanna, Scarlatti, Arianna, Rossi, Salvatore, Natale, Gemma, De Michele, Giovanna, Barghigiani, Melissa, Cioffi, Ettore, Filla, Alessandro, Bilancieri, Giusi, Casali, Carlo, Santorelli, Filippo M., Silvestri, Gabriella, Tessa, Alessandra

Source: Neurogenetics; Jul2023, Vol. 24 Issue 3, p147-160, 14p

Subject Terms: NUCLEOTIDE sequencing, MOLECULAR diagnosis, NEUROLOGICAL disorders, GENETICS

Identification of Gait Unbalance and Fallers Among Subjects with Cerebellar Ataxia by a Set of Trunk Acceleration-Derived Indices of Gait.

Authors: Castiglia, Stefano Filippo, Trabassi, Dante, Tatarelli, Antonella, Ranavolo, Alberto, Varrecchia, Tiwana, Fiori, Lorenzo, Di Lenola, Davide, Cioffi, Ettore, Raju, Manikandan, Coppola, Gianluca, Caliandro, Pietro, Casali, Carlo, Serrao, Mariano

Source: Cerebellum; Feb2023, Vol. 22 Issue 1, p46-58, 13p

Subject Terms: CEREBELLAR ataxia, GAIT in humans, RECEIVER operating characteristic curves, WALKING speed, ROOT-mean-squares

Effects of Botulinum Toxin Type A on the Nociceptive and Lemniscal Somatosensory Systems in Chronic Migraine: An Electrophysiological Study.

Authors: Sebastianelli, Gabriele, Casillo, Francesco, Di Renzo, Antonio, Abagnale, Chiara, Cioffi, Ettore, Parisi, Vincenzo, Di Lorenzo, Cherubino, Serrao, Mariano, Pierelli, Francesco, Schoenen, Jean, Coppola, Gianluca

Source: Toxins; Jan2023, Vol. 15 Issue 1, p76, 16p

Subject Terms: EVOKED potentials (Electrophysiology), BOTULINUM A toxins, SOMATOSENSORY evoked potentials, ELECTROPHYSIOLOGY, BLINKING (Physiology), REFLEXES, MIGRAINE

Retinal and Visual Pathways Involvement in Carriers of Friedreich's Ataxia.

Authors: Ziccardi, Lucia, Barbano, Lucilla, Antonelli, Giulio, Cioffi, Ettore, Di Renzo, Antonio, Gioiosa, Valeria, Marcotulli, Christian, Grzybowski, Andrzej, Casali, Carlo, Parisi, Vincenzo

Source: Diagnostics (2075-4418); Dec2022, Vol. 12 Issue 12, p3135, 15p

Subject Terms: FRIEDREICH'S ataxia, VISUAL pathways, RETINAL ganglion cells, EYE movements, VISUAL evoked potentials

A Hypothalamic Mechanism Regulates the Duration of a Migraine Attack: Insights from Microstructural and Temporal Complexity of Cortical Functional Networks Analysis.

Authors: Porcaro, Camillo, Di Renzo, Antonio, Tinelli, Emanuele, Parisi, Vincenzo, Di Lorenzo, Cherubino, Caramia, Francesca, Fiorelli, Marco, Giuliani, Giada, Cioffi, Ettore, Seri, Stefano, Di Piero, Vittorio, Pierelli, Francesco, Di Lorenzo, Giorgio, Coppola, Gianluca

Source: International Journal of Molecular Sciences; Nov2022, Vol. 23 Issue 21, p13238, 12p

Subject Terms: SPREADING cortical depression, SUMATRIPTAN, DIFFUSION tensor imaging, LIMBIC system, FUNCTIONAL analysis, FUNCTIONAL magnetic resonance imaging, SALIENCE network