Literature DB >> 36214978

The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene.

Stefano Tozza1, Riccardo Currò2,3, Daniele Severi4, Vincenzo Marcelli5, Carlo Cavaliere6, Gabriella Esposito7,8, Rosa Iodice4, Andrea Cortese2,9, Fiore Manganelli4.   

Abstract

Entities:  

Keywords:  CANVAS; RFC1-related sensory neuropathy; Vestibular areflexia; Vestibular test

Year:  2022        PMID： 36214978     DOI： 10.1007/s13760-022-02116-7

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.471


× No keyword cloud information.
  5 in total

1.  Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Authors:  Roisin Sullivan; Jana Vandrovcova; Mary M Reilly; Andrea Cortese; Roberto Simone; 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; Henry Houlden
Journal:  Nat Genet       Date:  2019-03-29       Impact factor: 38.330

2.  RFC1 expansions are a common cause of idiopathic sensory neuropathy.

Authors:  Riccardo Currò; Alessandro Salvalaggio; Stefano Tozza; Chiara Gemelli; Natalia Dominik; Valentina Galassi Deforie; Francesca Magrinelli; Francesca Castellani; Elisa Vegezzi; Pietro Businaro; Ilaria Callegari; Anna Pichiecchio; Giuseppe Cosentino; Enrico Alfonsi; Enrico Marchioni; Silvia Colnaghi; Simone Gana; Enza Maria Valente; Cristina Tassorelli; Stephanie Efthymiou; Stefano Facchini; Aisling Carr; Matilde Laura; Alexander M Rossor; Hadi Manji; Michael P Lunn; Elena Pegoraro; Lucio Santoro; Marina Grandis; Emilia Bellone; Nicholas J Beauchamp; Marios Hadjivassiliou; Diego Kaski; Adolfo M Bronstein; Henry Houlden; Mary M Reilly; Paola Mandich; Angelo Schenone; Fiore Manganelli; Chiara Briani; Andrea Cortese
Journal:  Brain       Date:  2021-06-22       Impact factor: 13.501

3.  RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy.

Authors:  Matteo Tagliapietra; Davide Cardellini; Moreno Ferrarini; Silvia Testi; Sergio Ferrari; Salvatore Monaco; Tiziana Cavallaro; Gian Maria Fabrizi
Journal:  J Neurol       Date:  2021-04-21       Impact factor: 4.849

4.  Bedside Head Impulse Test: A Useful Tool for Patients With Sensory Ataxia.

Authors:  Stefano Tozza; Andrea Cortese; Aniello Iovino; Marcello Esposito; Natalia Dominik; Rosa Iodice; Fiore Manganelli
Journal:  Neurol Genet       Date:  2020-12-21

5.  Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.

Authors:  Andrea Cortese; Stefano Tozza; Wai Yan Yau; Salvatore Rossi; Sarah J Beecroft; Zane Jaunmuktane; Zoe Dyer; Gianina Ravenscroft; Phillipa J Lamont; Stuart Mossman; Andrew Chancellor; Thierry Maisonobe; Yann Pereon; Cecile Cauquil; Silvia Colnaghi; Giulia Mallucci; Riccardo Curro; Pedro J Tomaselli; Gilbert Thomas-Black; Roisin Sullivan; Stephanie Efthymiou; Alexander M Rossor; Matilde Laurá; Menelaos Pipis; Alejandro Horga; James Polke; Diego Kaski; Rita Horvath; Patrick F Chinnery; Wilson Marques; Cristina Tassorelli; Grazia Devigili; Lea Leonardis; Nick W Wood; Adolfo Bronstein; Paola Giunti; Stephan Züchner; Tanya Stojkovic; Nigel Laing; Richard H Roxburgh; Henry Houlden; Mary M Reilly
Journal:  Brain       Date:  2020-02-01       Impact factor: 15.255
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.