Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

por Buijsen, Ronald A.M., Toonen, Lodewijk J.A., Gardiner, Sarah L., van Roon-Mom, Willeke M.C.
Publicado 2019

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

por Buijsen, Ronald AM, Sellier, Chantal, Severijnen, Lies-Anne WFM, Oulad-Abdelghani, Mustapha, Verhagen, Rob FM, Berman, Robert F, Charlet-Berguerand, Nicolas, Willemsen, Rob, Hukema, Renate K
Publicado 2014

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

por Berman, Robert F, Buijsen, Ronald AM, Usdin, Karen, Pintado, Elizabeth, Kooy, Frank, Pretto, Dalyir, Pessah, Isaac N, Nelson, David L, Zalewski, Zachary, Charlet-Bergeurand, Nicholas, Willemsen, Rob, Hukema, Renate K
Publicado 2014

Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset

por Gardiner, Sarah L., Milanese, Chiara, Boogaard, Merel W., Buijsen, Ronald A.M., Hogenboom, Marye, Roos, Raymund A.C., Mastroberardino, Pier G., van Roon-Mom, Willeke M.C., Aziz, N. Ahmad
Publicado 2018

Antisense Oligonucleotide-Induced Amyloid Precursor Protein Splicing Modulation as a Therapeutic Approach for Dutch-Type Cerebral Amyloid Angiopathy

por Daoutsali, Elena, Hailu, Tsinatkeab T., Buijsen, Ronald A.M., Pepers, Barry A., van der Graaf, Linda M., Verbeek, Marcel M., Curtis, Daniel, de Vlaam, Thomas, van Roon-Mom, Willeke M.C.
Publicado 2021

Early molecular layer interneuron hyperactivity triggers Purkinje neuron degeneration in SCA1

por Pilotto, Federica, Douthwaite, Christopher, Diab, Rim, Ye, XiaoQian, Al qassab, Zahraa, Tietje, Christoph, Mounassir, Meriem, Odriozola, Adolfo, Thapa, Aishwarya, Buijsen, Ronald A.M., Lagache, Sophie, Uldry, Anne-Christine, Heller, Manfred, Müller, Stefan, van Roon-Mom, Willeke M.C., Zuber, Benoît, Liebscher, Sabine, Saxena, Smita
Publicado 2023

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

por Sellier, Chantal, Buijsen, Ronald A.M., He, Fang, Natla, Sam, Jung, Laura, Tropel, Philippe, Gaucherot, Angeline, Jacobs, Hugues, Meziane, Hamid, Vincent, Alexandre, Champy, Marie-France, Sorg, Tania, Pavlovic, Guillaume, Wattenhofer-Donze, Marie, Birling, Marie-Christine, Oulad-Abdelghani, Mustapha, Eberling, Pascal, Ruffenach, Frank, Joint, Mathilde, Anheim, Mathieu, Martinez-Cerdeno, Veronica, Tassone, Flora, Willemsen, Rob, Hukema, Renate K., Viville, Stéphane, Martinat, Cecile, Todd, Peter K., Charlet-Berguerand, Nicolas
Publicado 2017