Results 181 to 190 of about 81,372 (199)

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials

open access: yesAnnals of Neurology, EarlyView.
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl   +6 more
wiley   +1 more source

HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

open access: yesAnnals of Neurology, EarlyView.
Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer   +52 more
wiley   +1 more source

High‐Dose Pulse Glucocorticoid Treatment Prevents White Matter Spinal Cord Pseudoatrophy in Newly Diagnosed Multiple Sclerosis

open access: yesAnnals of Neurology, EarlyView.
Objective Spinal cord (SC) atrophy correlates with and predicts the underlying progressive biology in active and non‐active multiple sclerosis (MS), thereby providing a biomarker for clinical trials and patient management. Initiation of disease‐modifying therapy (DMT) may be followed by early pronounced central nervous system (CNS) volume loss due to ...
Simone Sacco   +26 more
wiley   +1 more source

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

open access: yesAnnals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias   +23 more
wiley   +1 more source

Exosomes in Intervertebral Disc Regeneration: Roles, Opportunities, and Challenges

open access: yesAdvanced NanoBiomed Research, EarlyView.
Factors of Intervertebral Disc Degeneration Extracellular Matrix (ECM) Exosomes and Intervertebral Disc Degeneration (IVDD) Exosome‐Mediated Therapy for IVDD of Different Cell Sources Application of Engineered Exosomes in IVDD Clinical Application of Exosomes in IVDD Treatment Conclusion and Future Perspectives. Intervertebral disc degeneration (IVDD),
Xianglong Zhou   +7 more
wiley   +1 more source

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