CANVAS RFC1

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese

Zhongbo,Chen, Huw R,Morris, James,Polke, Nicholas W,Wood, Sonia,Gandhi, Mina,Ryten, Henry,Houlden, Arianna,Tucci

RFC1 CANVAS / Spectrum Disorder

Andrea,Cortese, Mary M.,Reilly, Henry,Houlden

Pseudodominance in RFC1-Spectrum Disorder.

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

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.

Sarah J,Beecroft, Andrea,Cortese, Roisin,Sullivan, Wai Yan,Yau, Zoe,Dyer, Teddy Y,Wu, Eoin,Mulroy, Luciana,Pelosi, Miriam,Rodrigues, Rachael,Taylor, Stuart,Mossman, Ruth,Leadbetter, James,Cleland, Tim,Anderson, Gianina,Ravenscroft, Nigel G,Laing, Henry,Houlden, Mary M,Reilly, Richard H,Roxburgh

V,Delforge, C,Tard, J-B,Davion, K,Dujardin, A,Wissocq, C-M,Dhaenens, E,Mutez, V,Huin

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.

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

RFC1 CANVAS: genotype phenotype correlations

Curro,Riccardo, Natalia,Dominik, Stojkovic,Tanya, Miller,James, Gosal,David, Hadivassiliou,Marios, Giunti,Paola, Henry,Houlden, Reilly,Mary M, Cortese,Andrea

Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease.

Peng,Liu, Fan,Zhang, Xinhui,Chen, Xiaosheng,Zheng, Miao,Chen, Zhiru,Lin, Shuqi,Chen, Lebo,Wang, Xinchen,Wang, Nan,Jin, Chenxin,Ying, Fei,Xie, Bo,Wang, Sheng,Wu, Zhidong,Cen, Wei,Luo

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

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Haloom,Rafehi, David J,Szmulewicz, Mark F,Bennett, Nara L M,Sobreira, Kate,Pope, Katherine R,Smith, Greta,Gillies, Peter,Diakumis, Egor,Dolzhenko, Michael A,Eberle, María García,Barcina, David P,Breen, Andrew M,Chancellor, Phillip D,Cremer, Martin B,Delatycki, Brent L,Fogel, Anna,Hackett, G Michael,Halmagyi, Solange,Kapetanovic, Anthony,Lang, Stuart,Mossman, Weiyi,Mu, Peter,Patrikios, Susan L,Perlman, Ian,Rosemergy, Elsdon,Storey, Shaun R D,Watson, Michael A,Wilson, David S,Zee, David,Valle, David J,Amor, Melanie,Bahlo, Paul J,Lockhart

Video head impulse test differentiates RFC1-CANVAS, FGF14-SCA27B, and idiopathic late-onset cerebellar ataxias.

Leonardo E,Ariello, Daniel R,Gold, Jennifer L,Millar, Michael C,Schubert, Weiyi,Mu, Liana,Rosenthal, David P W,Rastall

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Hannes,Erdmann, Annalisa,Schaub, Morghan C,Lucas, Veronika,Scholz, Anna,Benet-Pages, Kerstin,Becker, Christine,Dineiger, Veronika,Mayer, Inga,van Buren, Eva,Breithausen, Karl,Akbari, Isabell,Cordts, Mayra,Sauer, Christine,Schneider, Rosanna,Krakowsky, Franziska,Schnabel, Konstanze,Dunker, Lena,Fabritius, Johannes,Gerb, Denis,Grabova, Ken,Möhwald, Marius,Näher, Karoline,Steinmetz, Franziska,Thiessen, Alexander,Jäck, Christiane,Schneider-Gold, Simone,Zittel, Christina,Petersen, Isolde,Schreyer, Larissa,Mämecke, Sibylle,Wilfling, Gilbert,Wunderlich, David,Brenner, Yorck,Hellenbroich, Kirsten,Muhle, Tessa,Huchtemann, Inga,Claus, Thomas,Klopstock, Michael,Strupp, Johannes,Levin, Günter,Höglinger, Doreen,Huppert, Sandra,Becker-Bense, Filipp,Filippopulos, Fabian,Kilpert, Elsa,Leitão, Sabine,Kaya, Christel,Depienne, Florian,Schöberl, Teresa,Neuhann, Elke,Holinski-Feder, Andreas,Zwergal, Angela,Abicht

Fulya,Akçimen, Kensuke,Daida, Lara M,Lange, Abraham,Moller, Abigail,Miano-Burkhardt, Laksh,Malik, Kimberly,Paquette, Pilar Alvarez,Jerez, Jackson,Mingle, Breeana,Baker, Melissa,Meredith, Cedric,Kouam, Paige,Jarreau, Androo,Markham, Jessica,Anderson, Miten,Jain, Mark,Chaisson, Mark,Cookson, Bradford,Casey, Hirotaka,Iwaki, Sara,Bandres-Ciga, Paula,Saffie-Awad, Mike,Nalls, Zih-Hua,Fang, Andrew B,Singleton, Cornelis,Blauwendraat, Kimberley J,Billingsley

Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome.

Tomczuk,Filip, Ziora-Jakutowicz,Karolina, Dominik,Natalia, Houlden,Henry, Cortese,Andrea, Rutkowska,Karolina, Pollak,Agnieszka, Ploski,Rafal, Janik,Piotr, Elert-Dobkowska,Ewelina, Sulek,Anna

Non-coding repeat analyses in patients with Parkinson's disease.

Makito,Hirano, Makoto,Samukawa, Satoko,Miyatake, Yuko,Yamagishi, Chiharu,Isono, Rino,Yoshikawa, Kazumasa,Saigoh, Atsushi,Terayama, Yuji,Higashimoto, Eriko,Koshimizu, Takeshi,Mizuguchi, Kanako,Fujii, Yoshiyuki,Mitsui, Naomichi,Matsumoto, Yoshitaka,Nagai

Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.

Armand,Hocquel, David,Pellerin, Jean Loup,Méreaux, Vincent,Huin, Marios,Hadjivassiliou, Guillemette,Clément, Felipe,Villa, Salomé,Puisieux, Solène,Frismand, Marion,Wandzel, Virginie,Roth, Anna,Wissocq, Thomas,Wirth, Matt C,Danzi, Isabelle,Quadrio, Stephan,Zuchner, Laetitia,Lambert, Fanny,Mochel, Matthis,Synofzik, Mathieu,Anheim, Henry,Houlden, Alexis,Brice, Carine,Pourié, Bernard,Brais, Céline,Bonnet, Alexandra,Durr, Mathilde,Renaud

RFC1 regulates the expansion of neural progenitors in the developing zebrafish cerebellum.

Fanny,Nobilleau, Sébastien,Audet, Alexandra,da Silva Babinet, Sanaa,Tork, Charlotte,Zaouter, Meijiang,Liao, Nicolas,Pilon, Martine,Tétreault, Shunmoogum A,Patten, Éric,Samarut

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

,Handoko, Marlinda,Adham, Lisnawati,Rachmadi, Demak Lumban,Tobing, ,Asmarinah, ,Fadilah, Wei,Dai, Anne Wing Mui,Lee, Soehartati A,Gondhowiardjo

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Wai Yan,Yau, Roisin,Sullivan, Emer,O'Connor, David,Pellerin, Michael H,Parkinson, Paola,Giunti, Marie-Josée,Dicaire, Matt C,Danzi, Stephan,Züchner, Bernard,Brais, Nicholas W,Wood, Henry,Houlden, Jana,Vandrovcova