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

Proximal weakness involvement in the first Italian case of Charcot‐Marie‐Tooth 2CC harboring a novel frameshift variant in NEFH

Authors: Aruta, Francesco, Severi, Daniele, Iovino, Aniello, Spina, Emanuele, Barghigiani, Melissa, Ruggiero, Lucia, Iodice, Rosa, Santorelli, Filippo Maria, Manganelli, Fiore, Tozza, Stefano

Source: Journal of the peripheral nervous system. 26(2):231-234

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122898955.0x000001&indx=1&recIds=ETOCvdc_100122898955.0x000001

Pseudodominance in RFC1-Spectrum Disorder.

Authors: Falcone, Grazia Maria Igea, Tessa, Alessandra, Arena, Ignazio Giuseppe, Barghigiani, Melissa, Migliorato, Alba, Incensi, Alex, Rodolico, Carmelo, Donadio, Vincenzo, Santorelli, Filippo Maria, Musumeci, Olimpia

Source: Cerebellum; Dec2024, Vol. 23 Issue 6, p2622-2628, 7p

Subject Terms: SENSORY ataxia, GENETIC disorders, CEREBELLAR ataxia, SENSORY disorders, GENETIC counseling, RECESSIVE genes

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families

Authors: De Michele, Giovanna, Lieto, Maria, Galatolo, Daniele, Salvatore, Elena, Cocozza, Sirio, Barghigiani, Melissa, Tessa, Alessandra, Baldacci, Jacopo, Pappatà, Sabina, Filla, Alessandro, De Michele, Giuseppe, Santorelli, Filippo M.

Source: In Parkinsonism and Related Disorders August 2019 65:91-96

Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations

Authors: Ruggiero, Lucia, Iovino, Aniello, Dubbioso, Raffaele, Cocozza, Sirio, Trovato, Rosanna, Aruta, Francesco, Pontillo, Giuseppe, Barghigiani, Melissa, Brunetti, Arturo, Santorelli, Filippo Maria, Manganelli, Fiore, Iodice, Rosa

Source: Annals of clinical and translational neurology. 7(11):2326-2331

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100109990428.0x000001&indx=1&recIds=ETOCvdc_100109990428.0x000001

Expanding the clinical and genetic heterogeneity of SPAX5

Authors: Dosi, Claudia, Galatolo, Daniele, Rubegni, Anna, Doccini, Stefano, Pasquariello, Rosa, Nesti, Claudia, Sicca, Federico, Barghigiani, Melissa, Battini, Roberta, Tessa, Alessandra, Santorelli, Filippo M.

Source: Annals of clinical and translational neurology. 7(4):595-601

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100106609952.0x000001&indx=1&recIds=ETOCvdc_100106609952.0x000001

SPG8 mutations in Italian families: clinical data and literature review

Authors: Ginanneschi, Federica, D'Amore, Angelica, Barghigiani, Melissa, Tessa, Alessandra, Rossi, Alessandro, Santorelli, Filippo Maria

Source: Neurological sciences. 41(3):699-703

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175993067.0x000001&indx=1&recIds=ETOCvdc_100175993067.0x000001

Spinocerebellar ataxia type 48: last but not least

Authors: De Michele, Giovanna, Galatolo, Daniele, Barghigiani, Melissa, Dello Iacovo, Diletta, Trovato, Rosanna, Tessa, Alessandra, Salvatore, Elena, Filla, Alessandro, De Michele, Giuseppe, Santorelli, Filippo M.

Source: Neurological sciences. 41(9):2423-2432

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168189970.0x000001&indx=1&recIds=ETOCvdc_100168189970.0x000001

Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort.

Authors: Satolli, Sara, Rossi, Salvatore, Vegezzi, Elisa, Pellerin, David, Manca, Maria Laura, Barghigiani, Melissa, Battisti, Carla, Bilancieri, Giusi, Bruno, Giorgia, Capacci, Elena, Casali, Carlo, Ceravolo, Roberto, Cocozza, Sirio, Cotti Piccinelli, Stefano, Criscuolo, Chiara, Danzi, Matt C., De Micco, Rosa, De Michele, Giuseppe, Dicaire, Marie-Josée, Falcone, Grazia Maria Igea

Source: Journal of Neurology; Aug2024, Vol. 271 Issue 8, p5478-5488, 11p

Subject Terms: CEREBELLAR ataxia, MAGNETIC resonance imaging, MULTIPLE system atrophy, SPINOCEREBELLAR ataxia, ATAXIA, AGE of onset

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

Authors: Nicita, Francesco, Stregapede, Fabrizia, Tessa, Alessandra, Bassi, Maria Teresa, Jezela-Stanek, Aleksandra, Primiano, Guido, Pizzuti, Antonio, Barghigiani, Melissa, Nardella, Marta, Zanni, Ginevra, Servidei, Serenella, Astrea, Guja, Panzeri, Elena, Maghini, Cristina, Losito, Luciana, Ploski, Rafal, Gasperowicz, Piotr, Santorelli, Filippo Maria, Bertini, Enrico, Travaglini, Lorena

Source: Journal of neurology. 266(11):2657-2664

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141522917.0x000001&indx=1&recIds=ETOCvdc_100141522917.0x000001

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

Oculomotor features in SCA27B patients

Authors: Lopergolo, Diego, Bargagli, Alessia, Satolli, Sara, Barghigiani, Melissa, Mignarri, Andrea, Musumeci, Olimpia, Maria Santorelli, Filippo, Rufa, Alessandra

Source: In Clinical Neurophysiology February 2024 158:56-58

The role of the neurologist in the diagnostic route of HSP and cerebellar ataxias in the next generation sequencing era: A single center experience

Authors: Riso, Vittorio, Rossi, Salvatore, Nicoletti, Tommaso, Tessa, Alessandra, Travaglini, Lorena, Zanni, Ginevra, Aiello, Chiara, Perna, Alessia, Barghigiani, Melissa, Pomponi, Maria Grazia, Santorelli, Filippo Maria, Silvestri, Gabriella

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_100154176971.0x000001&indx=1&recIds=ETOCvdc_100154176971.0x000001

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

Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort.

Authors: Satolli, Sara, Rossi, Salvatore, Vegezzi, Elisa, Pellerin, David, Manca, Maria Laura, Barghigiani, Melissa, Battisti, Carla, Bilancieri, Giusi, Bruno, Giorgia, Capacci, Elena, Casali, Carlo, Ceravolo, Roberto, Cocozza, Sirio, Cotti Piccinelli, Stefano, Criscuolo, Chiara, Danzi, Matt C., De Micco, Rosa, De Michele, Giuseppe, Dicaire, Marie-Josée, Falcone, Grazia Maria Igea

Source: Journal of Neurology; Dec2024, Vol. 271 Issue 12, p7650-7651, 2p

Subject Terms: NEUROMUSCULAR diseases, SPINOCEREBELLAR ataxia, EXPERIMENTAL medicine, UNIVERSITY hospitals, NEURODEGENERATION

Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis.

Authors: Barghigiani, Melissa¹ (AUTHOR), De Michele, Giovanna² (AUTHOR), Tessa, Alessandra¹ (AUTHOR), Fico, Tommasina² (AUTHOR), Natale, Gemma¹ (AUTHOR), Saccà, Francesco² (AUTHOR), Pane, Chiara² (AUTHOR), Cuomo, Nunzia² (AUTHOR), De Rosa, Anna² (AUTHOR), Pappatà, Sabina³ (AUTHOR), De Michele, Giuseppe² (AUTHOR), Santorelli, Filippo M.¹ (AUTHOR), Filla, Alessandro² (AUTHOR) afilla@unina.it

Source: Journal of Neurology. Oct2022, Vol. 269 Issue 10, p5431-5435. 5p.

Subject Terms: *MEDICAL screening, *DIFFERENTIAL diagnosis, *SPINOCEREBELLAR ataxia, *MULTIPLE system atrophy, *CEREBELLAR ataxia, *DISEASE duration

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.

Authors: De Michele, Giovanna, Galatolo, Daniele, Galosi, Serena, Mignarri, Andrea, Silvestri, Gabriella, Casali, Carlo, Leuzzi, Vincenzo, Ricca, Ivana, Barghigiani, Melissa, Tessa, Alessandra, Cioffi, Ettore, Caputi, Caterina, Riso, Vittorio, Dotti, Maria Teresa, Saccà, Francesco, De Michele, Giuseppe, Cocozza, Sirio, Filla, Alessandro, Santorelli, Filippo M.

Source: Journal of Neurology; Mar2022, Vol. 269 Issue 3, p1476-1484, 9p

Subject Terms: SPINOCEREBELLAR ataxia, PROTEIN kinase C, ATAXIA, PHENOTYPES, GENETIC variation, CEREBELLAR ataxia

Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission.

Authors: Tolomeo, Deborah, Rubegni, Anna, Nesti, Claudia, Barghigiani, Melissa, Battini, Roberta, D'Amore, Francesca, Doccini, Stefano, Donati, Maria Alice, Galatolo, Daniele, Giglio, Sabrina, Guarducci, Silvia, Pantaleo, Marilena, Pasquariello, Rosa, Procopio, Elena, Pochiero, Francesca, Tessa, Alessandra, Santorelli, Filippo M. M.

Source: Journal of Medical Genetics; Aug2021, Vol. 58 Issue 8, p543-546, 4p

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