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DI-fusion

  • 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
  • Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
    par Reetz, Kathrin , Dogan, Imis , Hohenfeld, Christian , Didszun, Claire , Giunti, Paola , Mariotti, Caterina , Dürr, Alexandra , Boesch, Sylvia , Klopstock, Thomas , Rodríguez de Rivera Garrido, Francisco Javier , Schöls, Lüdger , Giordano, Ilaria Anna , Bürk, Katrin , Pandolfo, Massimo , Schulz, Jörg Bernhard
    Publication 2018-09-01
  • Assessing predictions on fitness effects of missense variants in HMBS in CAGI6
    par Zhang, Jing , Kinch, Lisa , Katsonis, Panagiotis , Lichtarge, Olivier , Jagota, Milind , Song, Yun S. , Sun, Yuanfei , Shen, Yang , Kuru, Nurdan , Dereli, Onur , Adebali, Ogun , Alladin, Muttaqi Ahmad , Pal, Debnath , Capriotti, Emidio , Turina, Maria Paola , Savojardo, Castrense , Martelli, Pier Luigi , Babbi, Giulia , Casadio, Rita RC , Pucci, Fabrizio , Rooman, Marianne , Cia Beriain, Gabriel , Tsishyn, Matsvei , Strokach, Alexey , Hu, Zhiqiang , van Loggerenberg, Warren , Roth, Frederick P , Radivojac, Predrag , Brenner, Steven E. , Cong, Qian , Grishin, Nick
    Publication 2024-08-01
  • POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program
    par Baptista Freitas, Marta , Desmyter, Laurence , Badoer, Cindy , Smits, Guillaume , Vandernoot, Isabelle , T’Kint De Roodenbeke, Daphne
    Publication 2024-08