Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Myriam Rai"'
Autor:
Luca Porcu, Mario Fichera, Lorenzo Nanetti, Eliana Rulli, Paola Giunti, Michael H. Parkinson, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Elisabetta Indelicato, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera, Ludger Schöls, Zofia Fleszar, Ilaria Giordano, Claire Didszun, Anna Castaldo, Myriam Rai, Thomas Klockgether, Massimo Pandolfo, Jörg B. Schulz, Kathrin Reetz, Caterina Mariotti, for the EFACTS Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2000-2012 (2023)
Abstract Background The Scale for Assessment and Rating of Ataxia (SARA) is widely used in different types of ataxias and has been chosen as the primary outcome measure in the European natural history study for Friedreich ataxia (FA). Methods To asse
Externí odkaz:
https://doaj.org/article/4c3b33ada73f4a84b5a8c6fca707bd4a
Autor:
Christian Hohenfeld, Ulrich Terstiege, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Lorenzo Nanetti, Mario Fichera, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Stefanie N. Hayer, Thomas Klockgether, Ilaria Giordano, Claire Didszun, Myriam Rai, Massimo Pandolfo, Holger Rauhut, Jörg B. Schulz, Kathrin Reetz
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract We explored whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations. From the database of the European Friedreich Ataxia Consortium for Translational Studies (EFACTS) data from up to five examinat
Externí odkaz:
https://doaj.org/article/ed878735d7364c09bd52d4f117032190
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 6, Pp 1050-1054 (2020)
Abstract Dentate nuclei (DN) are involved in cerebellar modulation of motor and cognitive functions, whose impairment causes ataxia and cerebellar cognitive affective syndrome (CCAS). Friedreich ataxia (FRDA) disease progression relates to degenerati
Externí odkaz:
https://doaj.org/article/efc6880d9e6744efa89dfeaca03410dc
Autor:
Meher Lad, Michael H. Parkinson, Myriam Rai, Massimo Pandolfo, Petya Bogdanova-Mihaylova, Richard A. Walsh, Sinéad Murphy, Anton Emmanuel, Jalesh Panicker, Paola Giunti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-6 (2017)
Abstract Background Pelvic symptoms are distressing symptoms experienced by patients with Friedreich’s Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA. Me
Externí odkaz:
https://doaj.org/article/848ef675aeb34442a18055cd58b31ffe
Autor:
Aurore Hick, Marie Wattenhofer-Donzé, Satyan Chintawar, Philippe Tropel, Jodie P. Simard, Nadège Vaucamps, David Gall, Laurie Lambot, Cécile André, Laurence Reutenauer, Myriam Rai, Marius Teletin, Nadia Messaddeq, Serge N. Schiffmann, Stéphane Viville, Christopher E. Pearson, Massimo Pandolfo, Hélène Puccio
Publikováno v:
Disease Models & Mechanisms, Vol 6, Iss 3, Pp 608-621 (2013)
SUMMARY Friedreich’s ataxia (FRDA) is a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy. FRDA is due to expanded GAA repeats within the first intron of the gene encoding frataxin, a conserved mitochondrial
Externí odkaz:
https://doaj.org/article/8628c6091f1b41bfa49ec4ee6cf62b74
Autor:
Myriam Rai, Elisabetta Soragni, C James Chou, Glenn Barnes, Steve Jones, James R Rusche, Joel M Gottesfeld, Massimo Pandolfo
Publikováno v:
PLoS ONE, Vol 5, Iss 1, p e8825 (2010)
Friedreich's ataxia (FRDA), the most common recessive ataxia in Caucasians, is due to severely reduced levels of frataxin, a highly conserved protein, that result from a large GAA triplet repeat expansion within the first intron of the frataxin gene
Externí odkaz:
https://doaj.org/article/9d00ccdb9c5a40f78f73e3a342080b57
Autor:
Myriam Rai, Elisabetta Soragni, Kai Jenssen, Ryan Burnett, David Herman, Giovanni Coppola, Daniel H Geschwind, Joel M Gottesfeld, Massimo Pandolfo
Publikováno v:
PLoS ONE, Vol 3, Iss 4, p e1958 (2008)
BACKGROUND: Friedreich ataxia, an autosomal recessive neurodegenerative and cardiac disease, is caused by abnormally low levels of frataxin, an essential mitochondrial protein. All Friedreich ataxia patients carry a GAATTC repeat expansion in the fir
Externí odkaz:
https://doaj.org/article/931ba0aa61da4772a4a3ab4076777ed0
Autor:
Chiara Dionisi, Marine Chazalon, Myriam Rai, Céline Keime, Virginie Imbault, David Communi, Hélène Puccio, Serge N Schiffmann, Massimo Pandolfo
Publikováno v:
Brain Communications. 5
Friedreich ataxia is an autosomal recessive multisystem disorder with prominent neurological manifestations and cardiac involvement. The disease is caused by large GAA expansions in the first intron of the FXN gene, encoding the mitochondrial protein
Publikováno v:
Annals of clinical and translational neurology, 7 (6
Annals of Clinical and Translational Neurology, Vol 7, Iss 6, Pp 1050-1054 (2020)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 6, Pp 1050-1054 (2020)
Annals of Clinical and Translational Neurology
Dentate nuclei (DN) are involved in cerebellar modulation of motor and cognitive functions, whose impairment causes ataxia and cerebellar cognitive affective syndrome (CCAS). Friedreich ataxia (FRDA) disease progression relates to degeneration of the
Autor:
Thomas Klopstock, M. Fichera, Francisco Javier Rodríguez de Rivera Garrido, Caterina Mariotti, Almut Turid Bischoff, Claudia Stendel, Christian Hohenfeld, Alexandra Durr, Anna Castaldo, Ilaria Giordano, Stefanie N. Hayer, Alessia Mongelli, Marie Lorraine Monin, Massimo Pandolfo, Kathrin Reetz, Katarina Manso, Gessica Vasco, Mar O'Callaghan, Nita Solanky, Matthias Amprosi, Claire Ewenczyk, Florian Holtbernd, Wolfgang Nachbauer, Sylvia Boesch, Enrico Bertini, Francesc Palau, Cinzia Gellera, Elisabetta Indelicato, Florentine Radelfahr, Imis Dogan, Marianthi Breza, Ludger Schöls, Christian Rummey, Michael H Parkinson, Andreas Eigentler, Jörg B. Schulz, Lorenzo Nanetti, Claire Didszun, Paola Giunti, Gilbert Thomas-Black, Nikolina Brcina, Marie Biet, Ralf-Dieter Hilgers, Robyn Labrum, Thomas Klockgether, Myriam Rai, Georgios Koutsis
Publikováno v:
The lancet / Neurology 20(5), 362-372 (2021). doi:10.1016/S1474-4422(21)00027-2
Summary Background The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) investigates the natural history of Friedreich's ataxia. We aimed to assess progression characteristics and to identify patient groups with differential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e639b3686431e2707c99907b08121ea