GAA/FGF14 ataxia: an ode to the phenotype-first approach by Elisabetta Indelicato, Sylvia Boesch

Get full text

Case report: Monoclonal CGRP-antibody treatment in a migraine patient with a mutation in the mitochondrial single-strand binding protein (SSBP1) by Katharina Kaltseis, Elisabetta Indelicato, Gregor Broessner, Sylvia Boesch

Get full text

Bioenergetics of the calf muscle in Friedreich ataxia patients measured by 31P-MRS before and after treatment with recombinant human erythropoietin. by Wolfgang Nachbauer, Sylvia Boesch, Rainer Schneider, Andreas Eigentler, Julia Wanschitz, Werner Poewe, Michael Schocke

Get full text

Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich’s ataxia by Elisabetta Indelicato, Klaus Faserl, Matthias Amprosi, Wolfgang Nachbauer, Rainer Schneider, Julia Wanschitz, Bettina Sarg, Sylvia Boesch

Get full text

SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities by Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M. Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann

Get full text

Mast Syndrome Outside the Amish Community: SPG21 in Europe by Matthias Amprosi, Elisabetta Indelicato, Wolfgang Nachbauer, Anna Hussl, Claudia Stendel, Claudia Stendel, Andreas Eigentler, Constanze Gallenmüller, Sylvia Boesch, Thomas Klopstock, Thomas Klopstock, Thomas Klopstock

Get full text

KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes by Giulia Barbagiovanni, Pierre-Luc Germain, Michael Zech, Sina Atashpaz, Pietro Lo Riso, Agnieszka D’Antonio-Chronowska, Erika Tenderini, Massimiliano Caiazzo, Sylvia Boesch, Robert Jech, Bernhard Haslinger, Vania Broccoli, Adrian Francis Stewart, Juliane Winkelmann, Giuseppe Testa

Get full text

Patient-reported, health economic and psychosocial outcomes in patients with Friedreich ataxia (PROFA): protocol of an observational study using momentary data assessments via mobi... by Jörg B Schulz, Kathrin Reetz, Sabrina Sayah, Feng Xie, Ludger Schöls, Thomas Klockgether, Thomas Klopstock, Sylvia Boesch, Alexandra Dürr, Elin Haf Davies, Maresa Buchholz, Niklas Weber, Stephanie Borel, Ivan Karin, Marcus Grobe-Einsler, Madeleine Schmeder, Andreas Nadke, Bernhard Michalowsky

Get full text

Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data by David R. Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer

Get full text

Onset features and time to diagnosis in Friedreich’s Ataxia by Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Durr, Thomas Klopstock, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz, Sylvia Boesch, on behalf of the EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies)

Get full text

Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA) by Kathrin Reetz, Ralf-Dieter Hilgers, Susanne Isfort, Marc Dohmen, Claire Didszun, Kathrin Fedosov, Jennifer Kistermann, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Thomas Klockgether, Massimo Pandolfo, Rudolf Korinthenberg, Philip Lavin, Geert Molenberghs, Vincenzo Libri, Paola Giunti, Richard Festenstein, Jörg B. Schulz, the EFACTS or NICOFA study group

Get full text

Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset by 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

Get full text

Prediction of the disease course in Friedreich ataxia by 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

Get full text