Search Results - "de Bot ST"

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

Authors: van Gassen KL van der Heijden CD de Bot ST et al.

Source: Brain: A Journal of Neurology; Oct2012, Vol. 135 Issue 10, p2994-3004, 11p

Pain processing and pain assessment in Huntington's disease: Study protocol of the Huntington's disease - PAIN study.

Authors: Sprenger GP van Velzen M Achterberg WP et al.

Source: PloS one [PLoS One] 2026 Apr 10; Vol. 21 (4), pp. e0346039. Date of Electronic Publication: 2026 Apr 10 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

IDEA-FAST clinical study protocol: Identifying digital end-points of fatigue, sleep quality and daytime sleepiness in N = 2000.

Authors: Maetzler W Avey S Pilotto A et al.

Corporate Authors: Maetzler W Avey S Pilotto A et al.

Source: Digital health [Digit Health] 2026 Mar 31; Vol. 12, pp. 20552076261428155. Date of Electronic Publication: 2026 Mar 31 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publications Ltd Country of Publication: United States NLM ID: 101690863 Publication Model: eCollection Cited Medium: Print ISSN: 2055-2076 (Print) Linking ISSN: 20552076 NLM ISO Abbreviation: Digit Health Subsets: PubMed not MEDLINE

Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease.

Authors: Bijlsma EK Koopmann TT de Bot ST et al.

Source: Journal of medical genetics [J Med Genet] 2026 Jun 25; Vol. 63 (7), pp. 463-465. Date of Electronic Publication: 2026 Jun 25.

Publication Type: Journal Article

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Psychological care for Huntington's disease: A qualitative study exploring interventions in the Netherlands.

Authors: Van der Zwaan KF Kuijper LCM van Lonkhuizen PJC et al.

Source: Psychology and psychotherapy [Psychol Psychother] 2026 Jun; Vol. 99 (2), pp. 443-462. Date of Electronic Publication: 2025 Dec 23.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101135751 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2044-8341 (Electronic) Linking ISSN: 14760835 NLM ISO Abbreviation: Psychol Psychother Subsets: MEDLINE

Exploring mutation carriers' preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study.

Authors: Rensink MJ Schermer MHN Tibben A et al.

Source: Human genetics [Hum Genet] 2025 Jun; Vol. 144 (6), pp. 665-677. Date of Electronic Publication: 2025 May 26.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Tolerability and efficacy of full-body head-up tilt sleeping in Parkinson's disease and multiple system atrophy.

Authors: van der Stam AH de Vries NM Shmuely S et al.

Source: NPJ Parkinson's disease [NPJ Parkinsons Dis] 2026 May 16. Date of Electronic Publication: 2026 May 16.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101675390 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2373-8057 (Print) Linking ISSN: 23738057 NLM ISO Abbreviation: NPJ Parkinsons Dis

Total functioning capacity scale in Huntington's disease: natural course over time.

Authors: van der Zwaan KF Feleus S Dekkers OM et al.

Source: Journal of neurology [J Neurol] 2025 Jan 15; Vol. 272 (2), pp. 140. Date of Electronic Publication: 2025 Jan 15.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Cognitive impairment predicts medication discrepancies in Huntington's Disease: patient self-report compared to pharmacy records.

Authors: Feleus S Vo MTD Kuijper LCM et al.

Source: Journal of neurology [J Neurol] 2024 Dec 12; Vol. 272 (1), pp. 55. Date of Electronic Publication: 2024 Dec 12.

Publication Type: Journal Article; Comparative Study

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

The clinical phenotype of carriers of intermediate alleles in the huntingtin gene: A scoping review.

Authors: van Hofslot A Oosterloo M de Jong JJA et al.

Source: Journal of Huntington's disease [J Huntingtons Dis] 2026 Feb; Vol. 15 (1), pp. 3-19. Date of Electronic Publication: 2025 Dec 17.

Publication Type: Journal Article; Scoping Review; Review

Journal Info: Publisher: SAGE Publications Country of Publication: United States NLM ID: 101589965 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-6400 (Electronic) Linking ISSN: 18796397 NLM ISO Abbreviation: J Huntingtons Dis Subsets: MEDLINE

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.

Authors: van Lonkhuizen PJC Heemskerk AW Slutter L et al.

Corporate Authors: van Lonkhuizen PJC Heemskerk AW Slutter L et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 29; Vol. 19 (1), pp. 444. Date of Electronic Publication: 2024 Nov 29.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

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 parkinsonism.

Authors: van der Stam AH de Vries NM Shmuely S et al.

Source: BMC neurology [BMC Neurol] 2024 Jan 02; Vol. 24 (1), pp. 4. Date of Electronic Publication: 2024 Jan 02.

Publication Type: Clinical Trial Protocol; Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

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 relation to pharmacogenetics.

Authors: Feleus S van der Lee M Swen JJ et al.

Source: Therapeutic advances in rare disease [Ther Adv Rare Dis] 2023 Nov 08; Vol. 4, pp. 26330040231204643. Date of Electronic Publication: 2023 Nov 08 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Sage Country of Publication: England NLM ID: 9918557474706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2633-0040 (Electronic) Linking ISSN: 26330040 NLM ISO Abbreviation: Ther Adv Rare Dis Subsets: PubMed not MEDLINE

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

Authors: Ouwerkerk J Feleus S van der Zwaan KF et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 27; Vol. 18 (1), pp. 218. Date of Electronic Publication: 2023 Jul 27.

Publication Type: Observational Study; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Comparison of the Clinical Spectrum of Juvenile- and Adult-Onset Huntington Disease: A National Cohort and Enroll-HD Observational Study.

Authors: Bakels HS van der Zwaan KF Van Zwet E et al.

Source: Neurology [Neurology] 2025 May 27; Vol. 104 (10), pp. e213525. Date of Electronic Publication: 2025 Apr 22.

Publication Type: Journal Article; Observational Study; Comparative Study

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Anosognosia and avoidant coping do not impact work in early Huntington's disease.

Authors: van der Zwaan KF Roos RA de Bot ST

Source: Journal of Huntington's disease [J Huntingtons Dis] 2025 May; Vol. 14 (2), pp. 179-190. Date of Electronic Publication: 2025 Jun 11.

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publications Country of Publication: United States NLM ID: 101589965 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-6400 (Electronic) Linking ISSN: 18796397 NLM ISO Abbreviation: J Huntingtons Dis Subsets: MEDLINE

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

Authors: van Lonkhuizen PJC Frank W Heemskerk AW et al.

Corporate Authors: van Lonkhuizen PJC Frank W Heemskerk AW et al.

Source: Journal of neurology [J Neurol] 2023 May; Vol. 270 (5), pp. 2416-2437. Date of Electronic Publication: 2023 Jan 30.

Publication Type: Systematic Review; Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

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

Authors: Bakels HS van Duinen SG de Bresser J et al.

Source: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2023 Feb; Vol. 49 (1), pp. e12858. Date of Electronic Publication: 2022 Nov 13.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7609829 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2990 (Electronic) Linking ISSN: 03051846 NLM ISO Abbreviation: Neuropathol Appl Neurobiol Subsets: MEDLINE

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 pleiotropy of pathogenic HTT gene expansion.

Authors: Bakels HS Feleus S van Dis V et al.

Source: Acta neuropathologica [Acta Neuropathol] 2023 Feb; Vol. 145 (2), pp. 257-258. Date of Electronic Publication: 2022 Nov 06.

Publication Type: Letter; Comment

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

Medication Use and Treatment Indications in Huntington's Disease; Analyses from a Large Cohort.

Authors: Feleus S Skotnicki LEM Roos RAC et al.

Source: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Dec; Vol. 11 (12), pp. 1530-1541. Date of Electronic Publication: 2024 Oct 21.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE