Results 171 to 180 of about 1,401,171 (222)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu +5 more
wiley +1 more source
Moyamoya Disease and the Risk of Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by the progressive narrowing of arteries at the base of the brain, forming abnormal collateral vascular networks. While vascular parkinsonism is noted in MMD, its link to Parkinson's disease (PD) has not been explored.
Dallah Yoo +9 more
wiley +1 more source
The Diverse Neuromuscular Spectrum of VPS13A Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger +16 more
wiley +1 more source
Testosterone Therapy in Relation to Prostate Cancer in a U.S. Commercial Insurance Claims Database [PDF]
, 2019 Michael B. Cook +6 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute to these MS‐related manifestations.
Alessandro Franceschini +7 more
wiley +1 more source
INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano +27 more
wiley +1 more source
Real estate databases and the new coordinate system in relation to the inspire directive
, 2010 Mihaela Triglav Čekada +2 more
openalex +1 more source
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source