Literature DB >> 25752951

Movement disorders: Friedreich ataxia today—preparing for the final battle.

Giuseppe De Michele1, Alessandro Filla1.   

Abstract

Entities:  

Mesh：

Year:  2015        PMID： 25752951     DOI： 10.1038/nrneurol.2015.33

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


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  10 in total

1.  Epigenetic therapy for Friedreich ataxia.

Authors:  Elisabetta Soragni; Wenyan Miao; Marco Iudicello; David Jacoby; Stefania De Mercanti; Marinella Clerico; Filomena Longo; Antonio Piga; Sherman Ku; Erica Campau; Jintang Du; Pablo Penalver; Myriam Rai; Joseph C Madara; Kristopher Nazor; Melinda O'Connor; Anton Maximov; Jeanne F Loring; Massimo Pandolfo; Luca Durelli; Joel M Gottesfeld; James R Rusche
Journal:  Ann Neurol       Date:  2014-09-16       Impact factor: 10.422

Review 2.  Co-enzyme Q10 and idebenone use in Friedreich's ataxia.

Authors:  Michael H Parkinson; Jörg B Schulz; Paola Giunti
Journal:  J Neurochem       Date:  2013-08       Impact factor: 5.372

3.  Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.

Authors:  Kathrin Reetz; Imis Dogan; Ana S Costa; Manuel Dafotakis; Kathrin Fedosov; Paola Giunti; Michael H Parkinson; Mary G Sweeney; Caterina Mariotti; Marta Panzeri; Lorenzo Nanetti; Javier Arpa; Irene Sanz-Gallego; Alexandra Durr; Perrine Charles; Sylvia Boesch; Wolfgang Nachbauer; Thomas Klopstock; Ivan Karin; Chantal Depondt; Jennifer Müller vom Hagen; Ludger Schöls; Ilaria A Giordano; Thomas Klockgether; Katrin Bürk; Massimo Pandolfo; Jörg B Schulz
Journal:  Lancet Neurol       Date:  2015-01-05       Impact factor: 44.182

4.  Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

Authors:  Massimo Pandolfo; Javier Arpa; Martin B Delatycki; Kim Hanh Le Quan Sang; Caterina Mariotti; Arnold Munnich; Irene Sanz-Gallego; Geneieve Tai; Mark A Tarnopolsky; Franco Taroni; Michael Spino; Fernando Tricta
Journal:  Ann Neurol       Date:  2014-08-30       Impact factor: 10.422

Review 5.  Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.

Authors:  Stéphane Schmucker; Hélène Puccio
Journal:  Hum Mol Genet       Date:  2010-04-22       Impact factor: 6.150

6.  Clinical and genetic abnormalities in patients with Friedreich's ataxia.

Authors:  A Dürr; M Cossee; Y Agid; V Campuzano; C Mignard; C Penet; J L Mandel; A Brice; M Koenig
Journal:  N Engl J Med       Date:  1996-10-17       Impact factor: 91.245

7.  A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.

Authors:  Francesco Saccà; Giorgia Puorro; Antonella Antenora; Angela Marsili; Alessandra Denaro; Raffaele Piro; Pierpaolo Sorrentino; Chiara Pane; Alessandra Tessa; Vincenzo Brescia Morra; Sergio Cocozza; Giuseppe De Michele; Filippo M Santorelli; Alessandro Filla
Journal:  PLoS One       Date:  2011-03-11       Impact factor: 3.240

8.  The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

Authors:  A Filla; G De Michele; F Cavalcanti; L Pianese; A Monticelli; G Campanella; S Cocozza
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

9.  Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia.

Authors:  Heather L Plasterer; Eric C Deutsch; Matthew Belmonte; Elizabeth Egan; David R Lynch; James R Rusche
Journal:  PLoS One       Date:  2013-05-17       Impact factor: 3.240

10.  Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Authors:  V Campuzano; L Montermini; M D Moltò; L Pianese; M Cossée; F Cavalcanti; E Monros; F Rodius; F Duclos; A Monticelli; F Zara; J Cañizares; H Koutnikova; S I Bidichandani; C Gellera; A Brice; P Trouillas; G De Michele; A Filla; R De Frutos; F Palau; P I Patel; S Di Donato; J L Mandel; S Cocozza; M Koenig; M Pandolfo
Journal:  Science       Date:  1996-03-08       Impact factor: 47.728
  10 in total
  3 in total

1.  The Working Life of People with Degenerative Cerebellar Ataxia.

Authors:  A Ranavolo; M Serrao; T Varrecchia; C Casali; A Filla; A Roca; A Silvetti; C Marcotulli; B M Rondinone; S Iavicoli; F Draicchio
Journal:  Cerebellum       Date:  2019-10       Impact factor: 3.847

Review 2.  Genome engineering: a new approach to gene therapy for neuromuscular disorders.

Authors:  Christopher E Nelson; Jacqueline N Robinson-Hamm; Charles A Gersbach
Journal:  Nat Rev Neurol       Date:  2017-09-29       Impact factor: 42.937

3.  Friedreich ataxia in Norway - an epidemiological, molecular and clinical study.

Authors:  Iselin Marie Wedding; Mette Kroken; Sandra Pilar Henriksen; Kaja Kristine Selmer; Torunn Fiskerstrand; Per Morten Knappskog; Tone Berge; Chantal M E Tallaksen
Journal:  Orphanet J Rare Dis       Date:  2015-09-04       Impact factor: 4.123
  3 in total

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