Therapeutic Strategies for Spinocerebellar Ataxia Type 1

Autor: Laurie M. C. Kerkhof, Bart P. C. van de Warrenburg, Willeke M. C. van Roon-Mom, Ronald A. M. Buijsen

Publikováno v: Biomolecules, Vol 13, Iss 5, p 788 (2023)

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that affects one or two individuals per 100,000. The disease is caused by an extended CAG repeat in exon 8 of the ATXN1 gene and is characterized mostly by a pro

Externí odkaz: https://doaj.org/article/4888d42cc32e418c8e6a903017e98a9b

Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands

Autor: Bas J. H. van Lith, Hans C. J. W. Kerstens, Laura A. C. van den Bemd, Maria W. G. Nijhuis-van der Sanden, Vivian Weerdesteyn, Rob J. E. M. Smeets, Klemens Fheodoroff, Bart P. C. van de Warrenburg, Alexander C. H. Geurts

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

Abstract Background Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by progressive spastic paresis of the lower limbs. Treatment is often focused on reducing spasticity and its physical consequences. To better addr

Externí odkaz: https://doaj.org/article/d52e3f04431b41ebb86f5d16cc8aae58

Correction to: Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study

Autor: Roderick P. P. W. M. Maas, Ivan Toni, Jonne Doorduin, Thomas Klockgether, Dennis J. L. G. Schutter, Bart P. C. van de Warrenburg

Publikováno v: BMC Neurology, Vol 21, Iss 1, Pp 1-1 (2021)

Externí odkaz: https://doaj.org/article/323f8a7b9007430ca0d05d0b5629a028

How to proceed after 'negative' exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

Autor: Saskia B. Wortmann, Machteld M. Oud, Mariëlle Alders, Karlien L. M. Coene, Saskia N. van der Crabben, René G. Feichtinger, Alejandro Garanto, Alex Hoischen, Mirjam Langeveld, Dirk Lefeber, Johannes A. Mayr, Charlotte W. Ockeloen, Holger Prokisch, Richard Rodenburg, Hans R. Waterham, Ron A. Wevers, Bart P. C. van de Warrenburg, Michel A. A. P. Willemsen, Nicole I. Wolf, Lisenka E. L. M. Vissers, Clara D. M. van Karnebeek

Publikováno v: Journal of Inherited Metabolic Disease, 45, 663-681
Wortmann, S B, Oud, M M, Alders, M, Coene, K L M, van der Crabben, S N, Feichtinger, R G, Garanto, A, Hoischen, A, Langeveld, M, Lefeber, D, Mayr, J A, Ockeloen, C W, Prokisch, H, Rodenburg, R, Waterham, H R, Wevers, R A, van de Warrenburg, B P C, Willemsen, M A A P, Wolf, N I, Vissers, L E L M & van Karnebeek, C D M 2022, ' How to proceed after “negative” exome : A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques ', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 663-681 . https://doi.org/10.1002/jimd.12507
Journal of Inherited Metabolic Disease, 45, 4, pp. 663-681

Contains fulltext : 282561.pdf (Publisher’s version ) (Open Access) Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has created tremendous improvement in achieving an accurate and timely molecular diagnosis for a g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f04ad9e023cdaf1de34da0124a754537
https://doi.org/10.1002/jimd.12507

Task-free functional MRI in cervical dystonia reveals multi-network changes that partially normalize with botulinum toxin.

Autor: Cathérine C S Delnooz, Jaco W Pasman, Christian F Beckmann, Bart P C van de Warrenburg

Publikováno v: PLoS ONE, Vol 8, Iss 5, p e62877 (2013)

Cervical dystonia is characterized by involuntary, abnormal movements and postures of the head and neck. Current views on its pathophysiology, such as faulty sensorimotor integration and impaired motor planning, are largely based on studies of focal

Externí odkaz: https://doaj.org/article/ce7cdfcbabcc483a9443816aa1f14f55