Results 81 to 90 of about 114,557 (289)
Downbeat nystagmus: aetiology and comorbidity in 117 patients [PDF]
, 2008 Objectives: Downbeat nystagmus (DBN) is the most common form of acquired involuntary ocular oscillation overriding fixation. According to previous studies, the cause of DBN is unsolved in up to 44% of cases.
Brandt, Thomas +3 more
core +1 more source
Annals of Neurology, EarlyView.Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang +10 more
wiley +1 more source
Oligonucleotide therapy mitigates disease in spinocerebellar ataxia type 3 mice
Annals of Neurology, 2018 Spinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disease, is the most common dominantly inherited ataxia. Despite advances in understanding this CAG repeat/polyglutamine expansion disease, there are still no therapies to alter its ...
Hayley S. McLoughlin +9 more
semanticscholar +1 more source
A Core Head, Neck, and Neuroanatomy Syllabus for Physical Therapy Student Education
Clinical Anatomy, EarlyView.ABSTRACT Head, neck, and neuroanatomy are essential components of physical therapy education due to their broad clinical applications. Detailed syllabi exist for medical students, yet none have been developed for physical therapy. This study aimed to produce an International Federation of Associations of Anatomists core head, neck, and neuroanatomy ...
Stephanie J. Woodley +4 more
wiley +1 more source
Neurofilament light chain is a promising serum biomarker in spinocerebellar ataxia type 3
Molecular Neurodegeneration, 2019 Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of autosomal dominantly inherited spinocerebellar ataxias (SCAs). No validated blood biomarker is available to assess either disease progression or therapeutic response.
Quan-Fu Li +8 more
semanticscholar +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
The spino-bulbar-cerebellar pathway: organization and neurochemical properties of spinal cells that project to the lateral reticular nucleus in the rat [PDF]
, 2015 In addition to classical spinocerebellar pathways, the cerebellum receives information from the spinal cord indirectly via spino-bulbar-cerebellar systems. One of the structures in this pathway is the lateral reticular nucleus (LRt).
Huma, Zilli, Maxwell, David J.
core +2 more sources
Journal of Neurochemistry, 2018 Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an incurable disorder, widely regarded as the most common form of spinocerebellar ataxia in the world.
Carlos A. Matos +2 more
semanticscholar +1 more source
Mapping protein–protein interactions by mass spectrometry
Mass Spectrometry Reviews, EarlyView.Abstract Protein–protein interactions (PPIs) are essential for numerous biological activities, including signal transduction, transcription control, and metabolism. They play a pivotal role in the organization and function of the proteome, and their perturbation is associated with various diseases, such as cancer, neurodegeneration, and infectious ...
Xiaonan Liu +4 more
wiley +1 more source