Deferiprone for the treatment of Friedreich's ataxia von Pandolfo, Massimo, Hausmann, Laura

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The pathogenesis of Friedreich ataxia and the structure and function of frataxin von Pandolfo, Massimo, Pastore, Annalisa

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Recessive cerebellar and afferent ataxias — clinical challenges and future directions von Beaudin, Marie, Manto, Mario, Schmahmann, Jeremy D., Pandolfo, Massimo, Dupre, Nicolas

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Primary proprioceptive neurons from human induced pluripotent stem cells: a cell model for afferent ataxias von Dionisi, Chiara, Rai, Myriam, Chazalon, Marine, Schiffmann, Serge N., Pandolfo, Massimo

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Friedreich ataxia: The clinical picture von Pandolfo, Massimo

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DNA methylation in Friedreich ataxia silences expression of frataxin isoform E von Rodden, Layne N., Gilliam, Kaitlyn M., Lam, Christina, Rojsajjakul, Teerapat, Mesaros, Clementina, Dionisi, Chiara, Pook, Mark, Pandolfo, Massimo, Lynch, David R., Blair, Ian A., Bidichandani, Sanjay I.

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HLA-A3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans von McCormack, Mark, Alfirevic, Ana, Bourgeois, Stephane, Farrell, John J, Kasperavičiūtė, Dalia, Carrington, Mary, Sills, Graeme J, Marson, Tony, Jia, Xiaoming, de Bakker, Paul I.W, Chinthapalli, Krishna, Molokhia, Mariam, Johnson, Michael R, O'Connor, Gerard D, Chaila, Elijah, Alhusaini, Saud, Shianna, Kevin V, Radtke, Rodney A, Heinzen, Erin L, Walley, Nicole, Pandolfo, Massimo, Pichler, Werner, Park, B. Kevin, Depondt, Chantal, Sisodiya, Sanjay M, Goldstein, David B, Deloukas, Panos, Delanty, Norman, Cavalleri, Gianpiero L, Pirmohamed, Munir

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Friedreich ataxia von Pandolfo, Massimo

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Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study von Jacobi, Heike, MD, du Montcel, Sophie Tezenas, PhD, Bauer, Peter, MD, Giunti, Paola, PhD, Cook, Arron, MBBS, Labrum, Robyn, MD, Parkinson, Michael H, MBBS, Durr, Alexandra, PhD, Brice, Alexis, Prof, Charles, Perrine, MD, Marelli, Cecilia, MD, Mariotti, Caterina, MD, Nanetti, Lorenzo, MD, Panzeri, Marta, MD, Rakowicz, Maria, MD, Sulek, Anna, PhD, Sobanska, Anna, MD, Schmitz-Hübsch, Tanja, MD, Schöls, Ludger, MD, Hengel, Holger, MD, Baliko, Laszlo, MD, Melegh, Bela, Prof, Filla, Alessandro, Prof, Antenora, Antonella, MD, Infante, Jon, MD, Berciano, José, Prof, van de Warrenburg, Bart P, PhD, Timmann, Dagmar, MD, Szymanski, Sandra, MD, Boesch, Sylvia, MD, Kang, Jun-Suk, MD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof, Molho, Sonia, MSc, Diallo, Alhassane, MD, Klockgether, Thomas, Prof

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Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation von Imbault, Virginie, Dionisi, Chiara, Naeije, Gilles, Communi, David, Pandolfo, Massimo

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Epigenetic therapy for Friedreich ataxia von Soragni, Elisabetta, Miao, Wenyan, Iudicello, Marco, Jacoby, David, De Mercanti, Stefania, Clerico, Marinella, Longo, Filomena, Piga, Antonio, Ku, Sherman, Campau, Erica, Du, Jintang, Penalver, Pablo, Rai, Myriam, Madara, Joseph C., Nazor, Kristopher, O'Connor, Melinda, Maximov, Anton, Loring, Jeanne F., Pandolfo, Massimo, Durelli, Luca, Gottesfeld, Joel M., Rusche, James R.

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Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes von DU MONTCEL, Sophie Tezenas, DURR, Alexandra, VAN DE WARRENBURG, Bart P. C, ORSI, Laura, GIUNTI, Paola, FILLA, Alessandro, SZYMANSKI, Sandra, KLOCKGETHER, Thomas, BERCIANO, José, PANDOLFO, Massimo, BOESCH, Sylvia, MELEGH, Bela, BAUER, Peter, TIMMANN, Dagmar, MANDICH, Paola, CAMUZAT, Agnès, GOTO, Jun, ASHIZAWA, Tetsuo, CAZENEUVE, Cécile, TSUJI, Shoji, PULST, Stefan-M, BRUSCO, Alfredo, RIESS, Olaf, FIGUEROA, Karla P, BRICE, Alexis, STEVANIN, Giovanni, ICHIKAWA, Yaeko, BRUSSINO, Alessandro, FORLANI, Sylvie, RAKOWICZ, Maria, SCHÖLS, Ludger, MARIOTTI, Caterina

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Onset features and time to diagnosis in Friedreich's Ataxia von Indelicato, Elisabetta, Nachbauer, Wolfgang, Eigentler, Andreas, Amprosi, Matthias, Matteucci Gothe, Raffaella, Giunti, Paola, Mariotti, Caterina, Arpa, Javier, Durr, Alexandra, Klopstock, Thomas, Schöls, Ludger, Giordano, Ilaria, Bürk, Katrin, Pandolfo, Massimo, Didszdun, Claire, Schulz, Jörg B, Boesch, Sylvia

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Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1 von Hourez, Raphael, Servais, Laurent, Orduz, David, Gall, David, Millard, Isabelle, de Kerchove d'Exaerde, Alban, Cheron, Guy, Orr, Harry T, Pandolfo, Massimo, Schiffmann, Serge N

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PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia von Marmolino, Daniele, Manto, Mario, Acquaviva, Fabio, Vergara, Paola, Ravella, Ajay, Monticelli, Antonella, Pandolfo, Massimo

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Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6 von REETZ, Kathrin, COSTA, Ana S, GRISOLI, Marina, DÜRR, Alexandra, VAN DE WARRENBURG, Bart P, TIMMANN, Dagmar, PANDOLFO, Massimo, BAUER, Peter, JACOBI, Heike, HAUSER, Till-Karsten, KLOCKGETHER, Thomas, SCHULZ, Jörg B, MIRZAZADE, Shahram, LEHMANN, Anna, JUZEK, Agnes, RAKOWICZ, Maria, BOGUSLAWSKA, Romana, SCHÖLS, Ludger, LINNEMANN, Christoph, MARIOTTI, Caterina

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Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes von Heinzen, Erin L., Radtke, Rodney A., Urban, Thomas J., Cavalleri, Gianpiero L., Depondt, Chantal, Need, Anna C., Walley, Nicole M., Nicoletti, Paola, Ge, Dongliang, Catarino, Claudia B., Duncan, John S., Kasperavičiūte˙, Dalia, Tate, Sarah K., Caboclo, Luis O., Sander, Josemir W., Clayton, Lisa, Linney, Kristen N., Shianna, Kevin V., Gumbs, Curtis E., Smith, Jason, Cronin, Kenneth D., Maia, Jessica M., Doherty, Colin P., Pandolfo, Massimo, Leppert, David, Middleton, Lefkos T., Gibson, Rachel A., Johnson, Michael R., Matthews, Paul M., Hosford, David, Kälviäinen, Reetta, Eriksson, Kai, Kantanen, Anne-Mari, Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Wieser, Heinz-Gregor, Zumsteg, Dominik, Ortega, Marcos, Wood, Nicholas W., Huxley-Jones, Julie, Mikati, Mohamad, Gallentine, William B., Husain, Aatif M., Buckley, Patrick G., Stallings, Ray L., Podgoreanu, Mihai V., Delanty, Norman, Sisodiya, Sanjay M., Goldstein, David B.

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Clinical management guidelines for Friedreich ataxia: best practice in rare diseases von Corben, Louise A, Collins, Veronica, Milne, Sarah, Farmer, Jennifer, Musheno, Ann, Lynch, David, Subramony, Sub, Pandolfo, Massimo, Schulz, Jörg B, Lin, Kim, Delatycki, Martin B

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A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol von Georgiou-Karistianis, Nellie, Corben, Louise A, Reetz, Kathrin, Adanyeguh, Isaac M, Corti, Manuela, Deelchand, Dinesh K, Delatycki, Martin B, Dogan, Imis, Evans, Rebecca, Farmer, Jennifer, França, Marcondes C, Gaetz, William, Harding, Ian H, Harris, Karen S, Hersch, Steven, Joules, Richard, Joers, James J, Krishnan, Michelle L, Lax, Michelle, Lock, Eric F, Lynch, David, Mareci, Thomas, Muthuhetti Gamage, Sahan, Pandolfo, Massimo, Papoutsi, Marina, Rezende, Thiago J R, Roberts, Timothy P L, Rosenberg, Jens T, Romanzetti, Sandro, Schulz, Jörg B, Schilling, Traci, Schwarz, Adam J, Subramony, Sub, Yao, Bert, Zicha, Stephen, Lenglet, Christophe, Henry, Pierre-Gilles

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HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model von Rai, Myriam, Soragni, Elisabetta, Jenssen, Kai, Burnett, Ryan, Herman, David, Coppola, Giovanni, Geschwind, Daniel H, Gottesfeld, Joel M, Pandolfo, Massimo

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