High relative frequency of SCA1 in Poland reflecting a potential founder effect

von Krysa, Wioletta, Sulek, Anna, Rakowicz, Maria, Szirkowiec, Walentyna, Zaremba, Jacek
Veröffentlicht in Neurol Sci (2016)

Current Pharmacological Management in Juvenile Huntington’s Disease

von Robertson, Lisa, Santini, Helen, O'Donovan, Kirsty L, Squitieri, Ferdinando, Barker, Roger A, Rakowicz, Maria, Landwehrmeyer, G. Bernhard, Quarrell, Oliver
Veröffentlicht 2012

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

von Elert-Dobkowska, Ewelina, Stepniak, Iwona, Krysa, Wioletta, Ziora-Jakutowicz, Karolina, Rakowicz, Maria, Sobanska, Anna, Pilch, Jacek, Antczak-Marach, Dorota, Zaremba, Jacek, Sulek, Anna
Veröffentlicht in Neurogenetics (2019)

The personal experience of parenting a child with Juvenile Huntington's Disease: perceptions across Europe

von Eatough, Virginia, Santini, Helen, Eiser, Christine, Goller, Marie-Louise, Krysa, Wioletta, de Nicola, ‘Annunziata', Paduanello, Matteo, Petrollini, Martina, Rakowicz, Maria, Squitieri, Ferdinando, Tibben, Aad, Lee Weille, Katie, Landwehrmeyer, Bernhard, Quarrell, Oliver, Smith, Jonathan A
Veröffentlicht 2013

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice

von Wilke, Carlo, Haas, Eva, Reetz, Kathrin, Faber, Jennifer, Garcia‐Moreno, Hector, Santana, Magda M, van de Warrenburg, Bart, Hengel, Holger, Lima, Manuela, Filla, Alessandro, Durr, Alexandra, Melegh, Bela, Masciullo, Marcella, Infante, Jon, Giunti, Paola, Neumann, Manuela, de Vries, Jeroen, Pereira de Almeida, Luis, Rakowicz, Maria, Jacobi, Heike, Schüle, Rebecca, Kaeser, Stephan A, Kuhle, Jens, Klockgether, Thomas, Schöls, Ludger, Barro, Christian, Hübener‐Schmid, Jeannette, Synofzik, Matthis
Veröffentlicht in EMBO Mol Med (2020)

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

von Tezenas du Montcel, Sophie, Durr, Alexandra, Bauer, Peter, Figueroa, Karla P., Ichikawa, Yaeko, Brussino, Alessandro, Forlani, Sylvie, Rakowicz, Maria, Schöls, Ludger, Mariotti, Caterina, van de Warrenburg, Bart P.C., Orsi, Laura, Giunti, Paola, Filla, Alessandro, Szymanski, Sandra, Klockgether, Thomas, Berciano, José, Pandolfo, Massimo, Boesch, Sylvia, Melegh, Bela, Timmann, Dagmar, Mandich, Paola, Camuzat, Agnès, Goto, Jun, Ashizawa, Tetsuo, Cazeneuve, Cécile, Tsuji, Shoji, Pulst, Stefan-M., Brusco, Alfredo, Riess, Olaf, Brice, Alexis, Stevanin, Giovanni
Veröffentlicht 2014

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

von Diallo, Alhassane, Jacobi, Heike, Schmitz‐Hübsch, Tanja, Cook, Arron, Labrum, Robyn, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Rakowicz, Maria, Sobanska, Anna, Sulek, Anna, Schöls, Ludger, Hengel, Holger, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P., Timmann, Dagmar, Boesch, Sylvia, Pandolfo, Massimo, Schulz, Jörg B., Bauer, Peter, Giunti, Paola, Baliko, Laszlo, Parkinson, Michael H., Kang, Jun‐Suk, Klockgether, Thomas, Tezenas du Montcel, Sophie
Veröffentlicht in Mov Disord Clin Pract (2017)

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6

von Tezenas du Montcel, Sophie, Durr, Alexandra, Rakowicz, Maria, Nanetti, Lorenzo, Charles, Perrine, Sulek, Anna, Mariotti, Caterina, Rola, Rafal, Schols, Ludger, Bauer, Peter, Dufaure-Garé, Isabelle, Jacobi, Heike, Forlani, Sylvie, Schmitz-Hübsch, Tanja, Filla, Alessandro, Timmann, Dagmar, van de Warrenburg, Bart P, Marelli, Cecila, Kang, Jun-Suk, Giunti, Paola, Cook, Arron, Baliko, Laszlo, Bela, Melegh, Boesch, Sylvia, Szymanski, Sandra, Berciano, José, Infante, Jon, Buerk, Katrin, Masciullo, Marcella, Di Fabio, Roberto, Depondt, Chantal, Ratka, Susanne, Stevanin, Giovanni, Klockgether, Thomas, Brice, Alexis, Golmard, Jean-Louis
Veröffentlicht 2014