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

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StartReact restores reaction time in HSP: evidence for subcortical release of a motor program by Nonnekes, Jorik, Oude Nijhuis, Lars B, de Niet, Mark, de Bot, Susanne T, Pasman, Jacobus W, van de Warrenburg, Bart P C, Bloem, Bastiaan R, Weerdesteyn, Vivian, Geurts, Alexander C

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Shifting focus from ideality to reality: a qualitative study on how quality of life is defined by premanifest and manifest Huntington's disease gene expansion carriers by van Lonkhuizen, Pearl J C, Heemskerk, Anne-Wil, Slutter, Leanne, van Duijn, Erik, de Bot, Susanne T, Chavannes, Niels H, Meijer, Eline

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Genotype―phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort by VAN GASSEN, Koen L. I, VAN DER HEIJDEN, Charlotte D. C. C, VAN DE WARRENBURG, Bart P, DE BOT, Susanne T, DEN DUNNEN, Wilfred F. A, VAN DEN BERG, Leonard H, VERSCHUUREN-BEMELMANS, Corien C, KREMER, H. P. H, VELDINK, Jan H, KAMSTEEG, Erik-Jan, SCHEFFER, Hans

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

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

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Study protocol for the Heads-Up trial: a phase II randomized controlled trial investigating head-up tilt sleeping to alleviate orthostatic intolerance in Parkinson's Disease and pa... by van der Stam, Amber H, de Vries, Nienke M, Shmuely, Sharon, Smeenk, Daan, Rutten, Joost H, van Rossum, Ineke A, de Bot, Susanne T, Claassen, Jurgen A, Bloem, Bastiaan R, Thijs, Roland D

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Development of the Huntington Support App (HD-eHelp study): a human-centered and co-design approach by van Lonkhuizen, Pearl J C, Heemskerk, Anne-Wil, Meijer, Eline, van Duijn, Erik, de Bot, Susanne T, Klempir, Jiri, Landwehrmeyer, G Bernhard, Mühlbäck, Alzbeta, Hoblyn, Jennifer, Squitieri, Ferdinando, Chavannes, Niels H, Vegt, Niko J H

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Mapping the glial transcriptome in Huntington's disease using snRNAseq: selective disruption of glial signatures across brain regions by Bøstrand, Sunniva M K, Seeker, Luise A, Bestard-Cuche, Nadine, Kazakou, Nina-Lydia, Jäkel, Sarah, Kenkhuis, Boyd, Henderson, Neil C, de Bot, Susanne T, van Roon-Mom, Willeke M C, Priller, Josef, Williams, Anna

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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... by 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

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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... by Bakels, Hannah S., Feleus, Stephanie, van Dis, Vera, de Bot, Susanne T.

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Juvenile‐Onset Huntington Disease Pathophysiology and Neurodevelopment: A Review by Bakels, Hannah S., Roos, Raymund A.C., Roon‐Mom, Willeke M.C., Bot, Susanne T.

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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias by Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Coarelli, Giulia, Mariotti, Caterina, Faber, Jennifer, Van Gaalen, Judith, Damasio, Joana, Fleszar, Zofia, Tosi, Michele, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M., Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A.J., Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T., Ristori, Giovanni, Blumkin, Lubov, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Brice, Alexis, Durr, Alexandra

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

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The prevalence of pain in Huntington's disease in a large worldwide cohort by Sprenger, Gregory P., Roos, Raymund A.C., van Zwet, Erik, Reijntjes, Robert H., Achterberg, Wilco P., de Bot, Susanne T.

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De novo SPAST mutations may cause a complex SPG4 phenotype by Schieving, Jolanda H, de Bot, Susanne T, van de Pol, Laura A, Wolf, Nicole I, Brilstra, Eva H, Frints, Suzanna G, van Gaalen, Judith, Misra-Isrie, Mala, Pennings, Maartje, Verschuuren-Bemelmans, Corien C, Kamsteeg, Erik-Jan, van de Warrenburg, Bart P, Willemsen, Michèl A

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Post‐mortem 7T MR imaging and neuropathology in middle stage juvenile‐onset Huntington disease: A case report by Bakels, Hannah S., Duinen, Sjoerd G., Bresser, Jeroen, Roon‐Mom, Willeke M. C., Weerd, Louise, Bot, Susanne T.

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Huntington's disease influences employment before and during clinical manifestation: A systematic review by van der Zwaan, Kasper F., Mentink, Marit D.C., Jacobs, Milou, Roos, Raymund A.C., de Bot, Susanne T.

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Hereditary spastic paraplegia caused by a mutation in the VCP gene by de Bot, Susanne T., Schelhaas, Helenius J., Kamsteeg, Erik-Jan, van de Warrenburg, Bart P.C.

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Medication Use and Treatment Indications in Huntington's Disease; Analyses from a Large Cohort by Feleus, Stephanie, Skotnicki, Lara E M, Roos, Raymund A C, de Bot, Susanne T

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