Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome von Ronco, Riccardo, Perini, Cecilia, Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Gennari, Alice, Simone, Roberto, Stuart, Skye, Nagy, Sara, Vegezzi, Elisa, Quartesan, Ilaria, El-Saddig, Amar, Lavin, Timothy, Tucci, Arianna, Szymura, Agnieszka, Novis De Farias, Luiz Eduardo, Gary, Alexander, Delfeld, Megan, Kandikatla, Priscilla, Niu, Nifang, Tawde, Sanjukta, Shaw, Joseph, Polke, James, Reilly, Mary M., Wood, Nick W., Crespan, Emmanuele, Gomez, Christopher, Chen, Jin Yun Helen, Schmahmann, Jeremy Dan, Gosal, David, Houlden, Henry, Das, Soma, Cortese, Andrea

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Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report von Imarisio, Alberto, Pilotto, Andrea, Lupini, Alessandro, Biasiotto, Giorgio, Zanella, Isabella, Currò, Riccardo, Vegezzi, Elisa, Cortese, Andrea, Palmieri, Ilaria, Valente, Enza Maria, Padovani, Alessandro

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Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis von Vegezzi, Elisa, Ishiura, Hiroyuki, Bragg, D Cristopher, Pellerin, David, Magrinelli, Francesca, Currò, Riccardo, Facchini, Stefano, Tucci, Arianna, Hardy, John, Sharma, Nutan, Danzi, Matt C, Zuchner, Stephan, Brais, Bernard, Reilly, Mary M, Tsuji, Shoji, Houlden, Henry, Cortese, Andrea

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Nerve ultrasound in CANVAS‐spectrum disease: Reduced nerve size distinguishes genetically confirmed CANVAS from other axonal polyneuropathies von Salvalaggio, Alessandro, Cacciavillani, Mario, Tierro, Benedetta, Coraci, Daniele, Currò, Riccardo, Ferrarini, Moreno, Pegoraro, Elena, Bello, Luca, Fabrizi, Gian Maria, Filla, Alessandro, Padua, Luca, Manganelli, Fiore, Cortese, Andrea, Briani, Chiara

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The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene von Tozza, Stefano, Currò, Riccardo, Severi, Daniele, Marcelli, Vincenzo, Cavaliere, Carlo, Esposito, Gabriella, Iodice, Rosa, Cortese, Andrea, Manganelli, Fiore

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Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts von Cortese, Andrea, Currò, Riccardo, Ronco, Riccardo, Blake, Julian, Rossor, Alex M., Bugiardini, Enrico, Laurà, Matilde, Warner, Tom, Yousry, Tarek, Poh, Roy, Polke, James, Rebelo, Adriana, Dohrn, Maike F., Saporta, Mario, Houlden, Henry, Zuchner, Stephan, Reilly, Mary M.

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Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype von Cortese, Andrea, Lombardi, Raffaella, Briani, Chiara, Callegari, Ilaria, Benedetti, Luana, Manganelli, Fiore, Luigetti, Marco, Ferrari, Sergio, Clerici, Angelo M., Marfia, Girolama Alessandra, Rigamonti, Andrea, Carpo, Marinella, Fazio, Raffaella, Corbo, Massimo, Mazzeo, Anna, Giannini, Fabio, Cosentino, Giuseppe, Zardini, Elisabetta, Currò, Riccardo, Gastaldi, Matteo, Vegezzi, Elisa, Alfonsi, Enrico, Berardinelli, Angela, Kouton, Ludivine, Manso, Constance, Giannotta, Claudia, Doneddu, Pietro, Dacci, Patrizia, Piccolo, Laura, Ruiz, Marta, Salvalaggio, Alessandro, De Michelis, Chiara, Spina, Emanuele, Topa, Antonietta, Bisogni, Giulia, Romano, Angela, Mariotto, Sara, Mataluni, Giorgia, Cerri, Federica, Stancanelli, Claudia, Sabatelli, Mario, Schenone, Angelo, Marchioni, Enrico, Lauria, Giuseppe, Nobile-Orazio, Eduardo, Devaux, Jérôme, Franciotta, Diego

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Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study von Vegezzi, Elisa, Cortese, Andrea, Bergsland, Niels, Mussinelli, Roberta, Paoletti, Matteo, Solazzo, Francesca, Currò, Riccardo, Ascagni, Lucia, Callegari, Ilaria, Quartesan, Ilaria, Lozza, Alessandro, Deligianni, Xeni, Santini, Francesco, Marchioni, Enrico, Cosentino, Giuseppe, Alfonsi, Enrico, Tassorelli, Cristina, Bastianello, Stefano, Merlini, Giampaolo, Palladini, Giovanni, Obici, Laura, Pichiecchio, Anna

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Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum von Quartesan, Ilaria, Vegezzi, Elisa, Currò, Riccardo, Heslegrave, Amanda, Pisciotta, Chiara, Iruzubieta, Pablo, Salvalaggio, Alessandro, Fernández‐Eulate, Gorka, Dominik, Natalia, Rugginini, Bianca, Manini, Arianna, Abati, Elena, Facchini, Stefano, Manso, Katarina, Albajar, Ines, Laban, Rhiannon, Rossor, Alexander M., Pichiecchio, Anna, Cosentino, Giuseppe, Saveri, Paola, Salsano, Ettore, Andreetta, Francesca, Valente, Enza M., Zetterberg, Henrik, Giunti, Paola, Stojkovic, Tanya, Briani, Chiara, López de Munain, Adolfo, Pareyson, Davide, Reilly, Mary M., Houlden, Henry, Tassorelli, Cristina, Cortese, Andrea

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Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions von Facchini, Stefano, Dominik, Natalia, Manini, Arianna, Efthymiou, Stephanie, Curro, Riccardo, Rugginini, Bianca, Vegezzi, Elisa, Quartesan, Ilaria, Perrone, Benedetta, Kutty, Shahedah Koya, Galassi Deforie, Valentina, Schnekenberg, Ricardo P, Abati, Elena, Pichiecchio, Anna, Valente, Enza Maria, Tassorelli, Cristina, Reilly, Mary M, Houlden, Henry, Bugiardini, Enrico, Cortese, Andrea

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Impact of multiple sclerosis risk loci in postinfectious neurological syndromes von Martinelli-Boneschi, Filippo, Currò, Riccardo, Santoro, Silvia, Berzero, Giulia, Sorosina, Melissa, Ferrè, Laura, Mascia, Elisabetta, Peroni, Silvia, Comi, Giancarlo, Gugliemi, Angelo, Vegezzi, Elisa, Callegari, Ilaria, Filippi, Massimo, Cortese, Andrea, Esposito, Federica, Clarelli, Ferdinando, Marchioni, Enrico

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RFC1 expansions are a common cause of idiopathic sensory neuropathy von Currò, Riccardo, Salvalaggio, Alessandro, Tozza, Stefano, Gemelli, Chiara, Dominik, Natalia, Galassi Deforie, Valentina, Magrinelli, Francesca, Castellani, Francesca, Vegezzi, Elisa, Businaro, Pietro, Callegari, Ilaria, Pichiecchio, Anna, Cosentino, Giuseppe, Alfonsi, Enrico, Marchioni, Enrico, Colnaghi, Silvia, Gana, Simone, Valente, Enza Maria, Tassorelli, Cristina, Efthymiou, Stephanie, Facchini, Stefano, Carr, Aisling, Laura, Matilde, Rossor, Alexander M, Manji, Hadi, Lunn, Michael P, Pegoraro, Elena, Santoro, Lucio, Grandis, Marina, Bellone, Emilia, Beauchamp, Nicholas J, Hadjivassiliou, Marios, Kaski, Diego, Bronstein, Adolfo M, Houlden, Henry, Reilly, Mary M, Mandich, Paola, Schenone, Angelo, Manganelli, Fiore, Briani, Chiara, Cortese, Andrea

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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis von Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Shaw, Joseph, Polke, James, Salsano, Ettore, Fenu, Silvia, Pareyson, Davide, Pisciotta, Chiara, Tofaris, George K, Nemeth, Andrea H, Ealing, John, Radunovic, Aleksandar, Kearney, Seamus, Kumar, Kishore R, Vucic, Steve, Kennerson, Marina, Reilly, Mary M, Houlden, Henry, Deveson, Ira, Tucci, Arianna, Taroni, Franco, Cortese, Andrea

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Severe distinct dysautonomia in RFC1‐related disease associated with Parkinsonism von Record, Christopher J., Alsukhni, Rana Alnasser, Curro, Riccardo, Kaski, Diego, Rubin, John S., Morris, Huw R., Cortese, Andrea, Iodice, Valeria, Reilly, Mary M.

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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease von Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andreas, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, James, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthis, Stojkovic, Tanya, Hadjivassiliou, Marios, Reilly, Mary M, Houlden, Henry, Cortese, Andrea

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Repeat expansion size predicts age of onset in RFC1 CANVAS and disease spectrum (S29.005) von Cortese, Andrea, Curro’, Riccardo, Dominik, Natalia, Hadjivassiliou, Marios, Hartmann, Annette, Basak, Nazli, Vegezzi, Elisa, Kennerson, Marina, Roxburgh, Richard, Laing, Nigel, Pareyson, Davide, Taroni, Franco, Manganelli, Fiore, Mandich, Paola, Fabrizi, Gianni Maria, Briani, Chiara, Murphy, Sinead, Jokela, Manu, Infante, Jon, Santorelli, Filippo Maria, Brusco, Alfredo, Silvestri, Gabriella, Zuchner, Stephan, Stojkovic, Tanya, Sumner, Charlotte, Synofzik, Matthis, Reilly, Mary, Houlden, Henry

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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry von Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, Ravenscroft, Gianina

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Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry von Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, Ravenscroft, Gianina

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Unusual upper limb features in SORD neuropathy von Record, Christopher J, Pipis, Menelaos, Blake, Julian, Curro, Riccardo, Lunn, Michael P, Rossor, Alexander M, Laura, Matilde, Cortese, Andrea, Reilly, Mary M

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Repeat expansions in RFC1 gene in Refractory Chronic Cough von Hirons, Barnaby, Cho, Peter S P, Rhatigan, Katie, Shaw, Joe, Curro, Riccardo, Rugginini, Bianca, Dominik, Natalia, Turner, Richard D, Mackay, Ewan, Hull, James H, Abubakar-Waziri, Hisham, Kesavan, Harini, Jolley, Caroline J, Hadden, Robert D, Cortese, Andrea, Birring, Surinder S

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