Found: 16
Select item for more details and to access through your institution.
De novo SPAST mutations may cause a complex SPG4 phenotype.
- Published in:
- 2019
- By:
- Publication type:
- letter
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1312, doi. 10.1038/ejhg.2013.27
- By:
- Publication type:
- Article
Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?
- Published in:
- 2017
- By:
- Publication type:
- letter
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.
- Published in:
- Acta Neuropathologica, 2023, v. 145, n. 2, p. 257, doi. 10.1007/s00401-022-02517-1
- By:
- Publication type:
- Article
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.
- Published in:
- Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231204643
- By:
- Publication type:
- Article
StartReact Restores Reaction Time in HSP: Evidence for Subcortical Release of a Motor Program.
- Published in:
- Journal of Neuroscience, 2014, v. 34, n. 1, p. 275, doi. 10.1523/JNEUROSCI.2948-13.2014
- By:
- Publication type:
- Article
Quality of life, health-related quality of life, and associated factors in Huntington's disease: a systematic review.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 5, p. 2416, doi. 10.1007/s00415-022-11551-8
- By:
- Publication type:
- Article
Machine learning in Huntington's disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02785-4
- By:
- Publication type:
- Article
Post-mortem 7T MR imaging and neuropathology in middle stage juvenile-onset Huntington disease: A case report.
- Published in:
- Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12858
- By:
- Publication type:
- Article
FUNCTIONAL EFFECTS OF BOTULINUM TOXIN TYPE-A TREATMENT AND SUBSEQUENT STRETCHING OF SPASTIC CALF MUSCLES: A STUDY IN PATIENTS WITH HEREDITARY SPASTIC PARAPLEGIA.
- Published in:
- Journal of Rehabilitation Medicine (Stiftelsen Rehabiliteringsinformation), 2015, v. 47, n. 2, p. 147, doi. 10.2340/16501977-1909
- By:
- Publication type:
- Article
Hereditary spastic paraplegia caused by a mutation in the VCP gene.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. e223, doi. 10.1093/brain/aws201
- By:
- Publication type:
- Article
Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 10, p. 2994, doi. 10.1093/brain/aws224
- By:
- Publication type:
- Article
Juvenile‐Onset Huntington Disease Pathophysiology and Neurodevelopment: A Review.
- Published in:
- Movement Disorders, 2022, v. 37, n. 1, p. 16, doi. 10.1002/mds.28823
- By:
- Publication type:
- Article
CSF Studies Facilitate DNA Diagnosis in Familial Alzheimer's Disease Due to a Presenilin-1 Mutation.
- Published in:
- Journal of Alzheimer's Disease, 2009, v. 17, n. 1, p. 53, doi. 10.3233/JAD-2009-1038
- By:
- Publication type:
- Article
The Many Faces of Huntington's Chorea Treatment: The Impact of Sudden Withdrawal of Tiapride after 40 Years of Use and a Systematic Review.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 4, p. 589, doi. 10.3390/jpm12040589
- By:
- Publication type:
- Article
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-Centered Design Approach.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.719460
- By:
- Publication type:
- Article