RFC1 CANVAS: pathogenic AAGGG repeat expansion frequency - CGC Genetics Unilabs overview

被引：0
|
作者：
Lameiras, Ligia [1 ]
Silva, Tiago [1 ]
Teixeira, Marisa [1 ]
Salgado, Isa [1 ]
Cerqueira, Rita [1 ]
Sa, Joaquim [1 ]
机构：
[1] CGC Genet, Unilabs Mol Diagnost & Clin Genom, Porto, Portugal
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
EP11.016
引用
收藏
页码：213 / 214
页数：2
相关论文
共 50 条
  • [41] RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia
    Mai Tsuchiya
    Haitian Nan
    Kishin Koh
    Yuta Ichinose
    Lihua Gao
    Keisuke Shimozono
    Takanori Hata
    Yeon-Jeong Kim
    Toshihisa Ohtsuka
    Andrea Cortese
    Yoshihisa Takiyama
    Journal of Human Genetics, 2020, 65 : 1143 - 1147
  • [42] Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
    Curro, Riccardo
    Dominik, Natalia
    Facchini, Stefano
    Vegezzi, Elisa
    Sullivan, Roisin
    Deforie, Valentina Galassi
    Fernandez-Eulate, Gorka
    Traschuetz, Andreas
    Rossi, Salvatore
    Garibaldi, Matteo
    Kwarciany, Mariusz
    Taroni, Franco
    Brusco, Alfredo
    Good, Jean-Marc
    Cavalcanti, Francesca
    Hammans, Simon
    Ravenscroft, Gianina
    Roxburgh, Richard H.
    Schnekenberg, Ricardo Parolin
    Rugginini, Bianca
    Abati, Elena
    Manini, Arianna
    Quartesan, Ilaria
    Ghia, Arianna
    de Munain, Adolfo Lopez
    Manganelli, Fiore
    Kennerson, Marina
    Santorelli, Filippo Maria
    Infante, Jon
    Marques, Wilson
    Jokela, Manu
    Murphy, Sinead 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
    Troakkes, Claire
    Jaunmuktane, Zane
    Giunti, Paola
    Hartmann, Annette
    Basak, Nazli
    Synofzik, Matthis
    Stojkovic, Tanya
    BRAIN, 2024, 147 (05) : 1887 - 1898
  • [43] Be aware of pitfalls: Bioinformatic analysis of Cas9-targeted Nanopore sequencing of the RFC1 repeat in CANVAS
    Wohlers, I.
    Pott, H.
    Schaake, S.
    Trinh, J.
    Busch, H.
    Lohmann, K.
    MOVEMENT DISORDERS, 2021, 36 : S95 - S95
  • [44] CANVAS syndrome and related phenotypes: A single-centre study of Spanish patients with RFC1 repeat expansions
    Gajate, Vicente
    Fenollar, Maria
    Herrero, Clara
    Oancea, Raluca
    Cotarelo, Carmen
    Yus, Miguel
    Montalvo, Teresa
    Galan, Lucia
    Guerrero, Antonio
    Horga, Alejandro
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2020, 25 (04) : 541 - 542
  • [45] A novel RFC1 repeat motif (ACGGG) in a patient with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)
    Thomsen, M.
    Borsche, M.
    Hinrichs, F.
    Helmchen, C.
    Brueggemann, N.
    Lohmann, K.
    MOVEMENT DISORDERS, 2022, 37 : S217 - S218
  • [46] Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
    Andrea Cortese
    Roberto Simone
    Roisin Sullivan
    Jana Vandrovcova
    Huma Tariq
    Wai Yan Yau
    Jack Humphrey
    Zane Jaunmuktane
    Prasanth Sivakumar
    James Polke
    Muhammad Ilyas
    Eloise Tribollet
    Pedro J. Tomaselli
    Grazia Devigili
    Ilaria Callegari
    Maurizio Versino
    Vincenzo Salpietro
    Stephanie Efthymiou
    Diego Kaski
    Nick W. Wood
    Nadja S. Andrade
    Elena Buglo
    Adriana Rebelo
    Alexander M. Rossor
    Adolfo Bronstein
    Pietro Fratta
    Wilson J. Marques
    Stephan Züchner
    Mary M. Reilly
    Henry Houlden
    Nature Genetics, 2019, 51 : 649 - 658
  • [47] Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
    Cortese, Andrea
    Simone, Roberto
    Sullivan, Roisin
    Vandrovcova, Jana
    Tariq, Huma
    Yan, Yau Way
    Humphrey, Jack
    Jaunmuktane, Zane
    Sivakumar, Prasanth
    Polke, James
    Ilyas, Muhammad
    Tribollet, Eloise
    Tomaselli, Pedro J.
    Devigili, Grazia
    Callegari, Ilaria
    Versino, Maurizio
    Salpietrol, Vincenzo
    Efthymiou, Stephanie
    Kaski, Diego
    Wood, Nick W.
    Andrade, Nadja S.
    Buglo, Elena
    Rebelo, Adriana
    Rossor, Alexander M.
    Bronstein, Adolfo
    Fratta, Pietro
    Marques, Wilson J.
    Zuchner, Stephan
    Reilly, Mary M.
    Houlden, Henry
    NATURE GENETICS, 2019, 51 (04) : 649 - +
  • [48] Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations
    Akcimen, Fulya
    Ross, Jay P.
    Bourassa, Cynthia, V
    Liao, Calwing
    Rochefort, Daniel
    Drumond Gama, Maria Thereza
    Dicaire, Marie-Josee
    Barsottini, Orlando G.
    Brais, Bernard
    Pedroso, Jose Luiz
    Dion, Patrick A.
    Rouleau, Guy A.
    FRONTIERS IN GENETICS, 2019, 10
  • [49] Late-onset ataxia due to RFC1 repeat expansion: a multicentric national study
    Malaquias, M.
    Braz, L.
    Damasio, J.
    Garcez, D.
    Marques, B.
    Caetano, A.
    Paula, A.
    Aires, A.
    Velon, A.
    Sousa, L.
    Ramos Alves, M.
    Costa, C.
    Rosado Coelho, C.
    Brandao, E.
    Nadais, G.
    Guimaraes, J.
    Mendes, M.
    Vila Cha, N.
    Abreu, P.
    Castro, P.
    Barbosa, R.
    Taipa, R.
    Araujo, R.
    Pimentel, T.
    Magalhaes, M.
    EUROPEAN JOURNAL OF NEUROLOGY, 2021, 28 : 366 - 366
  • [50] Biallelic Expansion of an Intronic Repeat in the RFC1 Gene in a Sample of Brazilian Citizens: a Genetic Study
    Bueno, Manoella
    Tomaselli, Pedro
    Figueiredo, Fernanda
    Junior, Wilson
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2021, 26 (03) : 413 - 413
12345