Results 261 to 270 of about 10,841,366 (345)

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano   +15 more
wiley   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas   +24 more
wiley   +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

Somatic cell count as an indicator of subclinical mastitis and increased inflammatory response in asymptomatic lactating women. [PDF]

open access: yesMicrobiol Spectr
Angelopoulou A   +9 more
europepmc   +1 more source

Cognitive and Patient‐Reported Outcome Measures in LGI‐1‐IgG Autoimmune Encephalitis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical outcome measures for autoimmune encephalitis (AE) are not yet well defined. Cognitive outcome measures (CogOs) and patient‐reported outcomes (PROs) may capture the symptoms of AE, beyond clinician‐reported outcomes (ClinROs) (the Modified Rankin Scale [mRS] and Clinical Assessment Scale in Autoimmune Encephalitis [CASE ...
Tatchaporn Ongphichetmetha   +8 more
wiley   +1 more source

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