Literature DB >> 35587277

Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series.

Massimo Filippi1,2,3,4,5, Bruno Colombo6, Matteo Azzimonti7,6, Raffaella Fazio6, Antonino Giordano6, Matteo Tagliapietra8, Moreno Ferrarini8, Maria Assunta Rocca7,6,9, Gian Maria Fabrizi8.   

Abstract

Entities:  

Mesh：

Year:  2022        PMID： 35587277     DOI： 10.1007/s00415-022-11184-x

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   6.682


× No keyword cloud information.
  8 in total

1.  Replication factor C recognizes 5'-phosphate ends of telomeres.

Authors:  F Uchiumi; T Ohta; S Tanuma
Journal:  Biochem Biophys Res Commun       Date:  1996-12-04       Impact factor: 3.575

2.  Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy.

Authors:  Vincent Huin; Mathieu Barbier; Alexandra Durr; Isabelle Le Ber
Journal:  Brain       Date:  2021-04-12       Impact factor: 13.501

3.  Estimated prevalence of multiple sclerosis in Italy in 2015.

Authors:  Mario Alberto Battaglia; Daiana Bezzini
Journal:  Neurol Sci       Date:  2016-12-31       Impact factor: 3.307

Review 4.  Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria.

Authors:  Alan J Thompson; Brenda L Banwell; Frederik Barkhof; William M Carroll; Timothy Coetzee; Giancarlo Comi; Jorge Correale; Franz Fazekas; Massimo Filippi; Mark S Freedman; Kazuo Fujihara; Steven L Galetta; Hans Peter Hartung; Ludwig Kappos; Fred D Lublin; Ruth Ann Marrie; Aaron E Miller; David H Miller; Xavier Montalban; Ellen M Mowry; Per Soelberg Sorensen; Mar Tintoré; Anthony L Traboulsee; Maria Trojano; Bernard M J Uitdehaag; Sandra Vukusic; Emmanuelle Waubant; Brian G Weinshenker; Stephen C Reingold; Jeffrey A Cohen
Journal:  Lancet Neurol       Date:  2017-12-21       Impact factor: 44.182

5.  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

6.  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

7.  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

8.  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
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.