Results 61 to 70 of about 134,831 (219)

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

ANALISIS RESPON GERAK BARGE SEBAGAI TAMBAK GARAM LEPAS PANTAI DI PERAIRAN SELAT MADURA

open access: yesWave, 2020
Pulau Madura sebagai salah satu wilayah di Indonesia dengan produksi garam yang cukup tinggi, memiliki potensi untuk bisa meningkatkan produksi garamnya, demi menunjang kebutuhan swasembada garam nasional.
Arief Syarifuddin   +4 more
doaj  

Wave–Wave Interaction of Unstable Baroclinic Waves

open access: yesJournal of the Atmospheric Sciences, 1987
Two slightly unstable baroclinic waves in the two-layer Phillips model are allowed to interact with each other as well as the mean flow. A theory for small dissipation rates is developed to examine the role of wave–wave interaction in the dynamics of vacillation and aperiodicity in unstable systems.
Pedlosky, Joseph, Polvani, Lorenzo M.
openaire   +3 more sources

Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma   +16 more
wiley   +1 more source

Natural Frequencies of Levodopa‐Induced Dyskinesia in Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Abnormal involuntary movements, known as dyskinesias, are common complications of levodopa treatment in patients with Parkinson's disease and can significantly impair quality of life. The underlying pathophysiology remains unclear, and current therapeutic options are limited.
Ioannis U. Isaias   +3 more
wiley   +1 more source

ARE SOLITARY WAVES THE LIMITING WAVES IN LONG WAVE RUNUP?

open access: yesCoastal Engineering Proceedings, 1988
This is a study of the maximum runup of single long waves on plane beaches. Laboratory data are presented that suggest that solitary waves attain the higher runup distances than other single long waves with identical generation characteristics, such as energy or momentum.
openaire   +2 more sources

Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park   +5 more
wiley   +1 more source

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato   +7 more
wiley   +1 more source

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