Results 131 to 140 of about 85,754 (248)

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit   +11 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier   +6 more
wiley   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs   +7 more
wiley   +1 more source

Upper Cervical Cord Area as a Biomarker of Conversion to Secondary Progressive Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study assessed whether upper cervical cord area (UCCA) measured on routine brain MRI can serve as a biomarker of conversion to SPMS. Methods This is a single‐center retrospective cohort study of RRMS patients with cross‐sectional and longitudinal analyses of clinical and MRI data. Future SPMS converters were matched by age, sex,
Nabil K. El Ayoubi   +8 more
wiley   +1 more source

Clinical and Modifiable Factors Associated With Disability and Relapse in MOGAD: A Multicentre Cohort Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Factors associated with relapse course and disability in myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) remain incompletely understood. Objectives To identify clinical and modifiable factors associated with relapse and disability in MOGAD. Methods In this ambispective multicentre cohort study using data from
Yingtao Wang   +23 more
wiley   +1 more source

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