Found: 61
Select item for more details and to access through your institution.
Mobile digital gait analysis captures effects of botulinum toxin in hereditary spastic paraplegia.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 8, p. 1, doi. 10.1111/ene.16367
- By:
- Publication type:
- Article
Care of Late‐Stage Parkinsonism: Resource Utilization of the Disease in Five European Countries.
- Published in:
- Movement Disorders, 2024, v. 39, n. 3, p. 571, doi. 10.1002/mds.29718
- By:
- Publication type:
- Article
Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11.
- Published in:
- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1299554
- By:
- Publication type:
- Article
Verbesserung der Versorgung von Patientinnen und Patienten mit spastischer Bewegungsstörung nach Schlaganfall.
- Published in:
- 2024
- By:
- Publication type:
- Proceeding
Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-03012-w
- By:
- Publication type:
- Article
Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 7, p. 1597, doi. 10.1007/s10875-023-01526-3
- By:
- Publication type:
- Article
ADHD‐associated PARK2 copy number variants: A pilot study on gene expression and effects of supplementary deprivation in patient‐derived cell lines.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2022, v. 189, n. 7/8, p. 257, doi. 10.1002/ajmg.b.32918
- By:
- Publication type:
- Article
Blood-based biomarker in Parkinson's disease: potential for future applications in clinical research and practice.
- Published in:
- Journal of Neural Transmission, 2022, v. 129, n. 9, p. 1201, doi. 10.1007/s00702-022-02498-1
- By:
- Publication type:
- Article
SARS-CoV-2, COVID-19 and Neurodegeneration.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/brainsci12070897
- By:
- Publication type:
- Article
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
- Published in:
- Movement Disorders, 2022, v. 37, n. 6, p. 1175, doi. 10.1002/mds.28959
- By:
- Publication type:
- Article
SARS-CoV-2, COVID-19 and Parkinson's Disease—Many Issues Need to Be Clarified—A Critical Review.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 4, p. 456, doi. 10.3390/brainsci12040456
- By:
- Publication type:
- Article
Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis.
- Published in:
- JAMA Neurology, 2022, v. 79, n. 2, p. 185, doi. 10.1001/jamaneurol.2021.4781
- By:
- Publication type:
- Article
Anti-GFAP-antibody positive postinfectious acute cerebellar ataxia and myoclonus after COVID-19: a case report.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2021, p. 1, doi. 10.1177/17562864211062824
- By:
- Publication type:
- Article
Familial adult myoclonic epilepsy (FAME): clinical features, molecular characteristics, pathophysiological aspects and diagnostic work-up.
- Published in:
- Medizinische Genetik, 2021, v. 33, n. 4, p. 311, doi. 10.1515/medgen-2021-2100
- By:
- Publication type:
- Article
Tiefe Hirnstimulation bei neurologischen und psychiatrischen Erkrankungen.
- Published in:
- Der Nervenarzt, 2021, v. 92, n. 10, p. 1042, doi. 10.1007/s00115-021-01079-z
- By:
- Publication type:
- Article
Resource Utilization of Patients with Parkinson's Disease in the Late Stages of the Disease in Germany: Data from the CLaSP Study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
TDP‐43 as structure‐based biomarker in amyotrophic lateral sclerosis.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 1, p. 271, doi. 10.1002/acn3.51256
- By:
- Publication type:
- Article
Anti-GFAP-antibody positive postinfectious acute cerebellar ataxia and myoclonus after COVID-19: a case report.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2021, p. 1, doi. 10.1177/17562864211062824
- By:
- Publication type:
- Article
Genotype‐phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.
- Published in:
- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 112, doi. 10.1111/jns.12367
- By:
- Publication type:
- Article
Examining the Reserve Hypothesis in Parkinson's Disease: A Longitudinal Study.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12763-9
- By:
- Publication type:
- Article
Management of delirium in Parkinson's disease.
- Published in:
- Journal of Neural Transmission, 2019, v. 126, n. 7, p. 905, doi. 10.1007/s00702-019-01980-7
- By:
- Publication type:
- Article
Genetik von Bewegungsstörungen - selten aber wichtig.
- Published in:
- Der Nervenarzt, 2019, v. 90, n. 2, p. 197, doi. 10.1007/s00115-018-0659-1
- By:
- Publication type:
- Article
Atypical Presentation of Rapid‐onset Dystonia‐parkinsonism (DYT12) Unresponsive to Deep Brain Stimulation of the Subthalamic Nucleus.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult.
- Published in:
- Frontiers in Neurology, 2017, v. 8, p. 1, doi. 10.3389/fneur.2017.00108
- By:
- Publication type:
- Article
Dermal phospho-alpha-synuclein deposits confirm REM sleep behaviour disorder as prodromal Parkinson's disease.
- Published in:
- Acta Neuropathologica, 2017, v. 133, n. 4, p. 535, doi. 10.1007/s00401-017-1684-z
- By:
- Publication type:
- Article
Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.
- Published in:
- 2017
- By:
- Publication type:
- case study
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 1, p. 11, doi. 10.1007/s00415-016-8301-2
- By:
- Publication type:
- Article
Genome-wide association study in essential tremor identifies three new loci.
- Published in:
- Brain: A Journal of Neurology, 2016, v. 139, n. 12, p. 3163, doi. 10.1093/brain/aww242
- By:
- Publication type:
- Article
Early- and late-onset essential tremor patients represent clinically distinct subgroups.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
- Published in:
- 2016
- By:
- Publication type:
- journal article
PARKIN Inactivation Links Parkinson's Disease to Melanoma.
- Published in:
- 2016
- By:
- Publication type:
- journal article
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Distinctive distribution of phospho-alpha-synuclein in dermal nerves in multiple system atrophy.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 9, p. 2124, doi. 10.1007/s00415-015-7727-2
- By:
- Publication type:
- Article
High nigral iron deposition in LRRK2 and Parkin mutation carriers using R2* relaxometry.
- Published in:
- Movement Disorders, 2015, v. 30, n. 8, p. 1077, doi. 10.1002/mds.26218
- By:
- Publication type:
- Article
Mutations in HTRA2 are not a common cause of familial classic ET.
- Published in:
- Movement Disorders, 2015, v. 30, n. 8, p. 1149, doi. 10.1002/mds.26252
- By:
- Publication type:
- Article
Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 5, p. e352, doi. 10.1093/brain/awu309
- By:
- Publication type:
- Article
The impact of rare variants in FUS in essential tremor.
- Published in:
- Movement Disorders, 2015, v. 30, n. 5, p. 721, doi. 10.1002/mds.26145
- By:
- Publication type:
- Article
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-158
- By:
- Publication type:
- Article
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).
- Published in:
- 2013
- By:
- Publication type:
- journal article
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 10, p. 2980, doi. 10.1093/brain/aws240
- By:
- Publication type:
- Article
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
- Published in:
- Neurogenetics, 2012, v. 13, n. 3, p. 215, doi. 10.1007/s10048-012-0329-6
- By:
- Publication type:
- Article
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 645, doi. 10.1038/ejhg.2011.261
- By:
- Publication type:
- Article
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1065, doi. 10.1038/ejhg.2010.68
- By:
- Publication type:
- Article
LINGO1 polymorphisms are associated with essential tremor in Europeans.
- Published in:
- Movement Disorders, 2010, v. 25, n. 6, p. 717, doi. 10.1002/mds.22887
- By:
- Publication type:
- Article
Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 766, doi. 10.1038/ejhg.2008.243
- By:
- Publication type:
- Article
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 97, doi. 10.1007/s10048-008-0158-9
- By:
- Publication type:
- Article
Evaluation of a screening instrument for essential tremor.
- Published in:
- Movement Disorders, 2008, v. 23, n. 7, p. 1006, doi. 10.1002/mds.22010
- By:
- Publication type:
- Article
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.
- Published in:
- Neurogenetics, 2007, v. 8, n. 4, p. 307, doi. 10.1007/s10048-007-0097-x
- By:
- Publication type:
- Article