Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Central Nervous System Guides Different Impairments Regarding Some Dysmetabolic Diseases [PDF]
Anna Piro
openalex +1 more source
DDEL-08. THE OMMAYA IN LEPTOMENINGEAL DISEASE AND CENTRAL NERVOUS SYSTEM MALIGNANCIES: A RESERVOIR OF THE PAST OR SOURCE OF THE FUTURE? [PDF]
, 2023 Eris Spirollari +6 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah +7 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein +7 more
wiley +1 more source
Regulation of Glial Function by Noncoding RNA in Central Nervous System Disease. [PDF]
Neurosci Bull, 2023 Bai Y +8 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune‐mediated neuropathy featuring progressive weakness, sensory deficits, and areflexia. While corticosteroids, intravenous immunoglobulin, and plasmapheresis are effective first‐line immunotherapies, a subset of patients remains treatment‐refractory.
Xueyu Zhang +8 more
wiley +1 more source
Protein Tyrosine Phosphatase Receptor Type Z in Central Nervous System Disease. [PDF]
Int J Mol Sci, 2022 Nagai K, Fujii M, Kitazume S.
europepmc +1 more source
Central nervous system involvement-positive disease in consolidation/maintenance stage is a poor prognostic factor in pediatric T-cell acute lymphoblastic leukemia: a Chinese single-center report [PDF]
Xiaoming Liu +7 more
openalex +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source