Adult onset neuronal Intranuclear Inclusion Disease (NIID) which initially presented with gait imbalance and fall
Objective: To report a rare case of adult onset neuronal intranuclear inclusion disease (NIID) presented with gait disturbance and fall, and finally confirmed with skin…Diffusion Tensor Imaging in GBA-related Parkinson’s disease
Objective: To study the white matter involvement in Parkinson's patients with Glucocerebrosidase mutations (GBA-related PD). Background: While Parkinson's disease (PD) is a neurodegenerative disease with…Autosomal recessive Primary Familial Brain Calcification caused by MYORG mutations. Two unrelated cases from the south of Chile
Objective: To describe two unrelated cases of AR- PFBC with mutations in MYORG gene. Background: Primary Familial Brain Calcification (PFBC) is a rare neurogenetic disorder…The phenotypic landscape and genetic profile of movement disorders in a cohort of tunisian children
Objective: The aim of our study was to report the clinical and genetic features of Tunisian patients with paediatric-onset movement disorders, cerebellar ataxia, and HSP.…Sensor-based gait analysis in the premotor stage of LRRK2 G2019S-associated Parkinson’s disease
Objective: To evaluate in a group of asymptomatic carriers of the G2019S mutation of the LRRK2 gene if there are subclinical gait alterations, detectable with…All that is gold does not glitter: SPG11 mimicking Westphal variant of Huntington’s disease
Objective: Our objective was to bring light into infrequent causes of gait disorders in children mimicking well-known diseases, specifically with relevant family background. Background: Hereditary…Developing New Insights Into Clinical and Genetic Features of PD – The Global Parkinson’s Genetics Program (GP2) Clinical Cohorts Working Group
Objective: We aim to recruit Parkinson’s cohorts across the world for the Global Parkinson’s Genetics Program (GP2, http://gp2.org/), harmonize clinical data for joint analysis and…A Narrative Review of Literature on Exercise Therapy and Cognitive Impairment in Individuals with Parkinson’s Disease: The Role of Epigenetics as a Mediator.
Objective: This narrative review explored the potential role of exercise as an epigenetic mediator of cognitive function in people with PD and the possible underlying…Movement Disorders in Hereditary Spastic Paraplegia (HSP): A Systematic Review and Individual Participant Data Meta-Analysis
Objective: To investigate genotype-phenotype associations in hereditary spastic paraplegia (HSP) with a focus on movement disorders. Background: HSP is a rare genetically-driven disorder associated with…Clinical and genetic research in a large Ukrainian family with autosomal recessive hereditary spastic paraplegia
Objective: To perform a clinical and genetic analysis of a large Ukrainian pedigree emigrated in Italy with autosomal recessive hereditary spastic paraplegia (ARHSP). Background: HSPs…
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