Results 201 to 210 of about 6,056,808 (246)

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

CSF Biomarker‐Based Cognitive Trajectories in Parkinson's Disease‐Subjective Cognitive Decline

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive complaints without objective cognitive impairment in Parkinson's Disease, termed Parkinson's Disease‐Subjective Cognitive Decline (PD‐SCD), have been associated with cognitive decline. However, its progression is heterogeneous, highlighting the need for improved identification of patients at greater risk for deterioration ...
Jon Rodriguez‐Antiguedad   +7 more
wiley   +1 more source

Actionable Wearables Data for the Neurology Clinic: A Proof‐of‐Concept Tool

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Wearable devices can monitor key health and fitness domains. In multiple sclerosis (MS), monitoring step count and sleep is feasible, valid, and offers a holistic glimpse of patient functioning and worsening. However, data generated from wearables are typically unavailable at the point of care.
Nicolette Miller   +12 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

[Teledermatology in Primary Care]. [PDF]

open access: yesAten Primaria
Martinez Carmona S   +5 more
europepmc   +1 more source

Detecting rs‐fMRI Networks in Disorders of Consciousness: Improving Clinical Interpretability

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Preserved resting‐state functional MRI (rs‐fMRI) networks are typically observed in Disorders of Consciousness (DOC). Despite the widespread use of rs‐fMRI in DOC, a systematic assessment of networks is needed to improve the interpretability of data in clinical practice.
Jean Paul Medina Carrion   +15 more
wiley   +1 more source

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