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Documents en relation

DI-fusion

  • Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
    par Reetz, Kathrin , Depondt, Chantal
    Publication 2018-09-04
  • Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset
    par Porcu, Luca , Fichera, Mario , Nanetti, Lorenzo , Rulli, Eliana , Giunti, Paola , Parkinson, Michael M.H. , Durr, Alexandra , Ewenczyk, Claire , Boesch, Sylvia , Nachbauer, Wolfgang , Indelicato, Elisabetta , Klopstock, Thomas , Stendel, Claudia , Rodriguez De Rivera, Francisco Javier , Schöls, Lüdger , Fleszar, Zofia , Giordano, Ilaria Anna , Didszun, Claire , Castaldo, Anna , Rai, Myriam , Klockgether, Thomas , Pandolfo, Massimo , Schulz, Jörg Bernhard , Reetz, Kathrin , Mariotti, Caterina
    Publication 2023-11
  • Prediction of the disease course in Friedreich ataxia
    par Hohenfeld, Christian , Terstiege, Ulrich , Dogan, Imis , Giunti, Paola , Parkinson, Michael M.H. , Mariotti, Caterina , Nanetti, Lorenzo , Fichera, Mario , Durr, Alexandra , Ewenczyk, Claire , Boesch, Sylvia , Nachbauer, Wolfgang , Klopstock, Thomas , Stendel, Claudia , Rodriguez De Rivera, Francisco Javier , Schöls, Lüdger , Hayer, Stefanie Nicole , Klockgether, Thomas , Giordano, Ilaria Anna , Didszun, Claire , Rai, Myriam , Pandolfo, Massimo , Rauhut, Holger , Schulz, Jörg Bernhard , Reetz, Kathrin
    Publication 2022-12
  • Onset features and time to diagnosis in Friedreich's Ataxia
    par Indelicato, Elisabetta , Nachbauer, Wolfgang , Eigentler, Andreas , Amprosi, Matthias , Matteucci Gothe, Raffaella , Giunti, Paola , Mariotti, Caterina , Arpa, Javier , Dürr, Alexandra , Klopstock, Thomas , Schöls, Lüdger , Giordano, Ilaria Anna , Bürk, Katrin , Pandolfo, Massimo , Didszdun, Claire , Schulz, Jörg Bernhard , Boesch, Sylvia
    Publication 2020-08
  • Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
    par Rossi, Alessandra , Lin, Susan X N , Absalom, Nathan NL , Ortiz-De la Rosa, Sebastian , Liao, Vivian VWY , Mohammadi, Nazanin NA , Viswanathan, Sindhu , Stödberg, Tommy , Danieli, Alberto , Bonanni, Paolo , Aeby, Alec , Orsini, Alessandro , Bonuccelli, Alice , Rüegger, Andrea , Giraldez, Beatriz BG , Isidor, Bertrand , Stüve, Burkhard , Marini, Carla , Cesaroni, Elisabetta , Fenger, Christina D , Philippe, Christophe , Meunier, Colombine , Lederer, Damien , Moortgat, Stephanie , Spinelli, Egidio , Fallica, Elisa , Zeiner, Fiona , Bauman, Matthias , Licchetta, Laura , Bisulli, Francesca , Operto, Francesca FF , Benkel-Herrenbrueck, Ira , Gorman, Kathleen KM , Johannesen, Katrine KM , Platzer, Konrad , Schnabel, Franziska , Lagae, Lieven , Laufs, Mirjam , Zordania, Riina , Malone, Stephen , Messana, Tullio , Werckx, Wendy , Jonsson, Charlotta , Afawi, Zaid , Foiadelli, Thomas , Halleb, Yosra , Stoeva, Radka , Jennesson-Lyver, Mélanie , Lesca, Gaetan , Guerrini, Renzo , Berkovic, Samuel F , Scheffer, Ingrid E , Chebib, Mary , Gardella, Elena , Møller, Rikke Steensbjerre , Rubboli, Guido , Ahring, Philip PK
    Publication 2025-07