Results 161 to 170 of about 113,300 (260)

Tri-linear interpolation-based cerebral white matter fiber imaging. [PDF]

open access: yesNeural Regen Res, 2013
Jiang S, Zhang P, Han T, Liu W, Liu M.
europepmc   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane   +43 more
wiley   +1 more source

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce   +72 more
wiley   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi   +8 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza   +19 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu   +21 more
wiley   +1 more source

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer   +11 more
wiley   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos   +5 more
wiley   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou   +16 more
wiley   +1 more source

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