Results 141 to 150 of about 1,691,019 (337)

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano   +27 more
wiley   +1 more source

Generalized quasi-linear fractional Wentzell problems

open access: yesAdvances in Nonlinear Analysis
Given a bounded (ε,δ)\left(\varepsilon ,\delta )-domain Ω⊆RN\Omega \subseteq {{\mathbb{R}}}^{N} (N≥2N\ge 2) whose boundary Γ≔∂Ω\Gamma := \partial \Omega is a dd-set for d∈(N−p,N)d\in \left(N-p,N), we investigate a generalized quasi-linear elliptic ...
Mesino-Espinosa Efren   +1 more
doaj   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco   +18 more
wiley   +1 more source

Uniqueness of weak solutions of the Plateau flow

open access: yesCalculus of Variations and Partial Differential Equations
AbstractIn this paper, we study the uniqueness of weak solutions of the heat flow of half-harmonic maps, which was first introduced by Wettstein as a half-Laplacian heat flow and recently studied by Struwe using more classical techniques. On top of its similarity with the two dimensional harmonic map flow, this geometric gradient flow is of interest ...
openaire   +3 more sources

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam   +6 more
wiley   +1 more source

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