Literature DB >> 32333430

RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy.

Roisin Sullivan1, Wai Yan Yau1,2, Viorica Chelban1,2, Salvatore Rossi1, E O'Connor1,2, Nicholas W Wood3,2, Andrea Cortese1,4, Henry Houlden1,2.   

Abstract

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Year:  2020        PMID： 32333430     DOI： 10.1002/mds.28074

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  9 in total

1.  The Strange Case of the Multiple MRI Phenotypes of RFC1 Mutation.

Authors:  Mario Mascalchi; Filippo M Santorelli
Journal:  Cerebellum       Date:  2022-03-31       Impact factor: 3.847

2.  Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.

Authors:  T Bogdan; T Wirth; A Iosif; A Schalk; S Montaut; C Bonnard; G Carre; O Lagha-Boukbiza; C Reschwein; E Albugues; S Demuth; H Landsberger; M Einsiedler; T Parratte; A Nguyen; F Lamy; H Durand; P Fahrer; P Voulleminot; K Bigaut; J B Chanson; G Nicolas; J Chelly; C Cazeneuve; M Koenig; C Bund; I J Namer; S Kremer; N Calmels; C Tranchant; M Anheim
Journal:  J Neurol       Date:  2022-07-23       Impact factor: 6.682

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

Authors:  Melissa Barghigiani; Giovanna De Michele; Alessandra Tessa; Tommasina Fico; Gemma Natale; Francesco Saccà; Chiara Pane; Nunzia Cuomo; Anna De Rosa; Sabina Pappatà; Giuseppe De Michele; Filippo M Santorelli; Alessandro Filla
Journal:  J Neurol       Date:  2022-05-28       Impact factor: 6.682

Review 4.  Recessive cerebellar and afferent ataxias - clinical challenges and future directions.

Authors:  Marie Beaudin; Mario Manto; Jeremy D Schmahmann; Massimo Pandolfo; Nicolas Dupre
Journal:  Nat Rev Neurol       Date:  2022-03-24       Impact factor: 42.937

5.  Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.

Authors:  Andreas Traschütz; Andrea Cortese; Selina Reich; Natalia Dominik; Jennifer Faber; Heike Jacobi; Annette M Hartmann; Dan Rujescu; Solveig Montaut; Andoni Echaniz-Laguna; Sevda Erer; Valerie Cornelia Schütz; Alexander A Tarnutzer; Marc Sturm; Tobias B Haack; Nadège Vaucamps-Diedhiou; Helene Puccio; Ludger Schöls; Thomas Klockgether; Bart P van de Warrenburg; Martin Paucar; Dagmar Timmann; Ralf-Dieter Hilgers; Jose Gazulla; Michael Strupp; German Moris; Alessandro Filla; Henry Houlden; Mathieu Anheim; Jon Infante; A Nazli Basak; Matthis Synofzik
Journal:  Neurology       Date:  2021-01-25       Impact factor: 9.910

6.  RFC1-Related Disease: Molecular and Clinical Insights.

Authors:  Kayli Davies; David J Szmulewicz; Louise A Corben; Martin Delatycki; Paul J Lockhart
Journal:  Neurol Genet       Date:  2022-08-29

7.  CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions.

Authors:  Natalia Dominik; Valentina Galassi Deforie; Andrea Cortese; Henry Houlden
Journal:  J Neurol       Date:  2020-09-10       Impact factor: 4.849

8.  RFC1-related ataxia is a mimic of early multiple system atrophy.

Authors:  Roisin Sullivan; Wai Yan Yau; Viorica Chelban; Salvatore Rossi; Natalia Dominik; Emer O'Connor; John Hardy; Nicholas Wood; Andrea Cortese; Henry Houlden
Journal:  J Neurol Neurosurg Psychiatry       Date:  2021-02-09       Impact factor: 13.654

Review 9.  Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS).

Authors:  Mathieu Dupré; Ruben Hermann; Caroline Froment Tilikete
Journal:  Cerebellum       Date:  2020-10-04       Impact factor: 3.847
  9 in total

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