Raising Awareness of Therapeutic Misconception and Optimism Around Clinical Trials in Huntington’s Disease

por de Bot, Susanne Tamara
Publicado 2019

More than a co-incidence? Comment on: Amyotrophic lateral sclerosis is over‐represented in two Huntington’s disease brain bank cohorts: further evidence to support genetic pleiotro...

por Bakels, Hannah S., Feleus, Stephanie, van Dis, Vera, de Bot, Susanne T.
Publicado 2022

The Many Faces of Huntington’s Chorea Treatment: The Impact of Sudden Withdrawal of Tiapride after 40 Years of Use and a Systematic Review

por Feleus, Stephanie, van Schaijk, Malu, Roos, Raymund A. C., de Bot, Susanne T.
Publicado 2022

Juvenile‐Onset Huntington Disease Pathophysiology and Neurodevelopment: A Review

por Bakels, Hannah S., Roos, Raymund A.C., van Roon‐Mom, Willeke M.C., de Bot, Susanne T.
Publicado 2021

Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington’s disease: a longitudinal, observational study to assess medication use and efficacy in relati...

por Feleus, Stephanie, van der Lee, Maaike, Swen, Jesse J., Roos, Raymund A. C., de Bot, Susanne T.
Publicado 2023

Post‐mortem 7T MR imaging and neuropathology in middle stage juvenile‐onset Huntington disease: A case report

por Bakels, Hannah S., van Duinen, Sjoerd G., de Bresser, Jeroen, van Roon‐Mom, Willeke M. C., van der Weerd, Louise, de Bot, Susanne T.
Publicado 2022

Study protocol of IMAGINE-HD: Imaging iron accumulation and neuroinflammation with 7T-MRI + CSF in Huntington’s disease

por van de Zande, Nadine Anniek, Bulk, Marjolein, Najac, Chloé, van der Weerd, Louise, de Bresser, Jeroen, Lewerenz, Jan, Ronen, Itamar, de Bot, Susanne Tamara
Publicado 2023

Quality of life, health-related quality of life, and associated factors in Huntington’s disease: a systematic review

por van Lonkhuizen, Pearl J. C., Frank, Wiebke, Heemskerk, Anne-Wil, van Duijn, Erik, de Bot, Susanne T., Mühlbäck, Alzbeta, Landwehrmeyer, G. Bernhard, Chavannes, Niels H., Meijer, Eline
Publicado 2023

Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction

por Ouwerkerk, Jasper, Feleus, Stephanie, van der Zwaan, Kasper F., Li, Yunlei, Roos, Marco, van Roon-Mom, Willeke M. C., de Bot, Susanne T., Wolstencroft, Katherine J., Mina, Eleni
Publicado 2023

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

por van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl AAP, Scheffer, Hans, Kamsteeg, Erik-Jan
Publicado 2016

GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case-control study

por Tramutola, Antonella, Bakels, Hannah S., Perrone, Federica, Di Nottia, Michela, Mazza, Tommaso, Abruzzese, Maria Pia, Zoccola, Martina, Pagnotta, Sara, Carrozzo, Rosalba, de Bot, Susanne T., Perluigi, Marzia, van Roon-Mom, Willeke M.C., Squitieri, Ferdinando
Publicado 2023

Study Protocol for the Development of a European eHealth Platform to Improve Quality of Life in Individuals With Huntington's Disease and Their Partners (HD-eHelp Study): A User-Ce...

por van Lonkhuizen, Pearl J. C., Vegt, Niko J. H., Meijer, Eline, van Duijn, Erik, de Bot, Susanne T., Klempíř, Jiří, Frank, Wiebke, Landwehrmeyer, G. Bernhard, Mühlbäck, Alzbeta, Hoblyn, Jennifer, Squitieri, Ferdinando, Foley, Peter, Chavannes, Niels H., Heemskerk, Anne-Wil
Publicado 2021

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

por Pennings, Maartje, Schouten, Meyke I., van Gaalen, Judith, Meijer, Rowdy P. P., de Bot, Susanne T., Kriek, Marjolein, Saris, Christiaan G. J., van den Berg, Leonard H., van Es, Michael A., Zuidgeest, Dick M. H., Elting, Mariet W., van de Kamp, Jiddeke M., van Spaendonck-Zwarts, Karin Y., Die-Smulders, Christine de, Brilstra, Eva H., Verschuuren, Corien C., de Vries, Bert B. A., Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A., Jaeger, B., Schieving, Jolanda H., van de Warrenburg, Bart P., Kamsteeg, Erik-Jan
Publicado 2019