Bart van de Warrenburg
Overview
Explore the profile of Bart van de Warrenburg including associated specialties, affiliations and a list of published articles.
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Articles
53
Citations
684
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Recent Articles
1.
Demaegd K, Kernan A, Cooper-Knock J, van Vugt J, Harvey C, Moll T, et al.
Eur J Hum Genet
. 2025 Feb;
PMID: 39956874
Spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) are both associated with a CAG-repeat expansion in ATXN2 and with TDP-43-positive neuronal cytoplasmic inclusions. The two disorders have been...
2.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer A, et al.
Nat Med
. 2025 Jan;
31(2):478-489.
PMID: 39825153
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource,...
3.
Wong T, Manuputty J, van Seeters T, Kamsteeg E, van de Warrenburg B
Cerebellum
. 2025 Jan;
24(2):32.
PMID: 39821862
Repeat expansions in the fibroblast growth factor 14 gene (FGF14), associated with spinocerebellar ataxia type 27B (SCA27B), have emerged as a prevalent cause of previously unexplained late-onset cerebellar ataxia. Here,...
4.
Potashman M, Rudell K, Suminski N, Doma R, Heinrich M, Abetz-Webb L, et al.
Neurol Ther
. 2025 Jan;
14(2):547-563.
PMID: 39812736
Introduction: The Friedreich Ataxia Rating Scale-Activities of Daily Living (FARS-ADL) is a validated and highly utilized measure for evaluating patients with Friedreich Ataxia. While construct validity of FARS-ADL has been...
5.
Yap K, Azmin S, Manan H, Yahya N, Ahmad N, Tajurudin F, et al.
Parkinsonism Relat Disord
. 2024 Jun;
124:107013.
PMID: 38843619
Introduction: Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease characterized by increasingly worsening ataxia and non-ataxia features, negatively impacting patients' quality of life. This study was designed to test...
6.
Ferreira M, Schaprian T, Kugler D, Reuter M, Deike-Hoffmann K, Timmann D, et al.
Cerebellum
. 2024 Mar;
23(4):1530-1531.
PMID: 38446346
No abstract available.
7.
Ferreira M, Schaprian T, Kugler D, Reuter M, Deike-Hoffmann K, Timmann D, et al.
Cerebellum
. 2024 Feb;
23(4):1521-1529.
PMID: 38363498
Cerebellar atrophy is the neuropathological hallmark of most ataxias. Hence, quantifying the volume of the cerebellar grey and white matter is of great interest. In this study, we aim to...
8.
Nemeth A, Antoniades C, Dukart J, Minnerop M, Rentz C, Schuman B, et al.
Cerebellum
. 2023 Nov;
23(3):912-923.
PMID: 38015365
Smartphone sensors are used increasingly in the assessment of ataxias. To date, there is no specific consensus guidance regarding a priority set of smartphone sensor measurements, or standard assessment criteria...
9.
Ferreira M, Schaprian T, Kugler D, Reuter M, Deike-Hoffmann K, Timmann D, et al.
Res Sq
. 2023 Nov;
PMID: 38014351
Background: Cerebellar atrophy is the neuropathological hallmark of most ataxias. Hence, quantifying the volume of the cerebellar grey and white matter is of great interest. In this study, we aim...
10.
Nanetti L, Kearney M, Boesch S, Stovickova L, Ortigoza-Escobar J, Macaya A, et al.
Neurol Sci
. 2023 Oct;
45(3):1007-1016.
PMID: 37853291
Background: Transition from child-centered to adult-centered healthcare is a gradual process that addresses the medical, psychological, and educational needs of young people in the management of their autonomy in making...