Results 221 to 230 of about 20,421,622 (264)

Axial Function Reflects Global Severity in Inherited Ataxias: The Upright Stability Score in Ambulatory Friedreich vs. Spinocerebellar Ataxia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.
Christian Rummey   +52 more
wiley   +1 more source

Molecular insights into GPR55 modulation reveal an atypical activation mechanism and glycosylation-dependent efficacy regulation. [PDF]

open access: yesNat Commun
Claff T   +14 more
europepmc   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo   +11 more
wiley   +1 more source

Structural dynamics of substrate processing by the p97-Ufd1-Npl4-FAF1 machinery. [PDF]

open access: yesNat Commun
Drakonaki A   +4 more
europepmc   +1 more source

Disentangling the Genetic Relationship Between Sleep and Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective A bidirectional relationship between sleep and epilepsy is well recognised, yet the biological mechanisms linking them remain poorly understood. Both have a genetic basis, with genome‐wide association studies (GWAS) capturing polygenic contributions.
Khang N. Le   +9 more
wiley   +1 more source

Automatic Lesion Morphometrics Reliably Predict Sensorimotor Recovery After Spinal Cord Injury: A Longitudinal, Multicenter Neuroimaging Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate automatic magnetic resonance imaging (MRI)‐derived lesion morphometrics against manual measurements and their prognostic value for characterizing distinct acute to chronic neurological recovery trajectories after spinal cord injury (SCI). Methods We studied a retrospective, multicenter cohort of cervical and thoracolumbar
Dario Pfyffer   +28 more
wiley   +1 more source

Molecular Diagnosis in Children With Febrile Seizures: Beyond the Conventional Clinical Classification

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Febrile seizures (FS) are currently classified as simple or complex primarily to describe seizure characteristics, with limited ability to identify the underlying etiology. We evaluated whether molecular diagnosis could complement conventional classification and improve the diagnosis and management of FS.
Jia Wang   +22 more
wiley   +1 more source

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