Results 241 to 250 of about 261,920 (288)

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero   +15 more
wiley   +1 more source

Patient Selection in Deep Brain Stimulation: A Role for Transcranial Direct Current Stimulation to Enhance the Levodopa Challenge?

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dopaminergic medication and deep brain stimulation (DBS) improve motor symptoms in Parkinson's disease (PD), but levodopa response alone may not predict DBS outcomes. We retrospectively analyzed 19 PD patients undergoing levodopa challenges with and without prior transcranial direct current stimulation targeting a defined PD response network ...
Lukas L. Goede   +3 more
wiley   +1 more source

NMDAR‐Antibody Encephalitis Diagnosed With Primary Central Nervous System Lymphoma: A Case Series

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT N‐methyl‐D‐aspartate receptor‐antibody encephalitis (NMDAR encephalitis) is one of the most common forms of autoimmune encephalitis, with a paraneoplastic relationship described in approximately 38%. Primary central nervous system lymphoma (PCNSL) is a rare hematologic malignancy that is not often considered as the underlying neoplasm in this ...
Soo Hyun Ahn   +4 more
wiley   +1 more source

Phenotyping Healthcare Use 2–3 Decades Before the First Multiple Sclerosis Demyelinating Event

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Phenotype hospital, physician, and emergency department (ED) visits by diagnoses and specialty up to 29 years pre‐multiple sclerosis (MS) onset versus a matched population without MS. Methods We identified people with MS (PwMS) using population‐based administrative data from Ontario, Canada (1991–2020).
Helen Tremlett   +8 more
wiley   +1 more source

Configuration of adaptable template RNA architectures to unfold the editable space of a nuclease prime editor. [PDF]

open access: yesNucleic Acids Res
Chen P   +10 more
europepmc   +1 more source

Plasma microRNA Signature as Predictive Marker of Clinical Response to Therapy During Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite the availability of effective therapies for Multiple Sclerosis (MS), the unpredictable nature of disease progression and the variability in individual treatment outcomes call for reliable biomarkers. This pilot study aims to investigate the potential of plasma circulating microRNAs (miRNAs) as predictive biomarkers for ...
Fortunata Carbone   +19 more
wiley   +1 more source

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