Literature DB >> 33563805

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

Roisin Sullivan1, Wai Yan Yau2,3, Viorica Chelban2,3, Salvatore Rossi4, Natalia Dominik2, Emer O'Connor2,3, John Hardy5, Nicholas Wood3,6, Andrea Cortese2,3, Henry Houlden2,3.   

Abstract

Entities:  

Keywords:  cerebellar ataxia; multisystem atrophy; neurogenetics

Year:  2021        PMID： 33563805      PMCID： PMC7958109          DOI： 10.1136/jnnp-2020-325092

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   13.654


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  5 in total

1.  A neurological syndrome associated with orthostatic hypotension: a clinical-pathologic study.

Authors:  G M SHY; G A DRAGER
Journal:  Arch Neurol       Date:  1960-05

2.  Second consensus statement on the diagnosis of multiple system atrophy.

Authors:  S Gilman; G K Wenning; P A Low; D J Brooks; C J Mathias; J Q Trojanowski; N W Wood; C Colosimo; A Dürr; C J Fowler; H Kaufmann; T Klockgether; A Lees; W Poewe; N Quinn; T Revesz; D Robertson; P Sandroni; K Seppi; M Vidailhet
Journal:  Neurology       Date:  2008-08-26       Impact factor: 9.910

3.  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

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

Authors:  Roisin Sullivan; Wai Yan Yau; Viorica Chelban; Salvatore Rossi; E O'Connor; Nicholas W Wood; Andrea Cortese; Henry Houlden
Journal:  Mov Disord       Date:  2020-04-24       Impact factor: 10.338

5.  When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients.

Authors:  Shunsuke Koga; Naoya Aoki; Ryan J Uitti; Jay A van Gerpen; William P Cheshire; Keith A Josephs; Zbigniew K Wszolek; J William Langston; Dennis W Dickson
Journal:  Neurology       Date:  2015-07-02       Impact factor: 9.910
  5 in total
  2 in total

1.  Biallelic expansion in RFC1 as a rare cause of Parkinson's disease.

Authors:  Laura Kytövuori; Jussi Sipilä; Hiroshi Doi; Anri Hurme-Niiranen; Ari Siitonen; Eriko Koshimizu; Satoko Miyatake; Naomichi Matsumoto; Fumiaki Tanaka; Kari Majamaa
Journal:  NPJ Parkinsons Dis       Date:  2022-01-10

2.  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
  2 in total

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