Search Results - "de Bot ST"

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

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single‐Center Neurogenetics Clinic.

Authors: Penn, Dvir Amir, Yam David, Gil Ben et al.

Source: Movement Disorders Clinical Practice. Nov2025, Vol. 12 Issue 11, p1811-1820. 10p.

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

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

Usability and feasibility assessment of the Huntington Support App (HD-eHelp study): a mixed-methods multi-study report.

Authors: van Lonkhuizen, Pearl J. C. Slutter, Leanne Meijer, Eline et al.

Source: BMC Digital Health. 8/29/2025, Vol. 3 Issue 1, p1-15. 15p.

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

Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia.

Authors: Cortés‐Rojas, María Camila Zarante‐Bahamón, Ana María Ramón‐Gómez, Jorge Luis

Source: Movement Disorders Clinical Practice. Sep2025, Vol. 12 Issue 9, p1380-1384. 5p.

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

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

Effect of virtual reality in hereditary spastic paraplegia: pilot randomized clinical trial.

Authors: Severiano, Maria Izabel Rodrigues Bueno dos Santos, Geslaine Janaina Gonçalves, Flavio et al.

Source: Virtual Reality; Jun2025, Vol. 29 Issue 2, p1-11, 11p

Digital Motor Outcomes Capture Upper Limb and Mild Stage Impairment in Hereditary Spastic Paraplegia.

Authors: Schulze, Malin Hermle, Dominik Schubert, Robin et al.

Source: Neurology & Therapy. Aug2026, Vol. 15 Issue 4, p1993-2009. 17p.

Childhood to Adult Neurodevelopment in Gene-Expanded Huntington's Disease (ChANGE-HD): A prospective longitudinal neurodevelopmental study of Huntington's disease.

Authors: Neema, Mohit Halabi, Nabil Freedberg, Michael V. et al.

Source: PLoS ONE. 6/25/2026, Vol. 21 Issue 6, p1-25. 25p.

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

Ziclague^® (Alpinia Zerumbet oil) in patients with hereditary spastic paraplegia - the randomized controlled ZISPAST trial.

Authors: de Lima, Fabricio Diniz Servelhere, Katiane Raisa Bittar, Maria Fernanda Ribeiro et al.

Source: Orphanet Journal of Rare Diseases. 9/24/2025, Vol. 20 Issue 1, p1-9. 9p.

Pediatric Huntington Disease Brains Have Distinct Morphologic and Metabolic Traits: the RAREST‐JHD Study.

Authors: Caligiuri, Maria Eugenia Tinelli, Emanuele Vizza, Patrizia et al.

Source: Movement Disorders Clinical Practice. Dec2024, Vol. 11 Issue 12, p1592-1597. 6p.

Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review.

Authors: Maccora, Simona Torrente, Angelo Di Stefano, Vincenzo et al.

Source: Neurological Sciences. Mar2024, Vol. 45 Issue 3, p963-976. 14p.

Subjects: Familial spastic paraplegia, Spasticity, Transcutaneous electrical nerve stimulation, Transcranial direct current stimulation, Botulinum A toxins, Magnetotherapy, Electric stimulation

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.

Authors: Messaoud-Khelifi M Boulariah-Hadjou R Kediha MI et al.

Source: Neurogenetics [Neurogenetics] 2025 Jun 25; Vol. 26 (1), pp. 52. Date of Electronic Publication: 2025 Jun 25.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Authors: Schlüter, Agatha Vélez-Santamaría, Valentina Verdura, Edgard et al.

Source: Genome Medicine. 9/7/2023, Vol. 15 Issue 1, p1-19. 19p.