Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51682
Abstract: Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity… read more here.
Keywords: review hnrnpa1; clinical heterogeneity; arm syndrome; hnrnpa1 related ... See more keywords
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1682
Abstract: Joubert syndrome (JBTS) is a rare genetic disorder that is characterized by midbrain‐hindbrain malformations. Multiple variants in genes that affect ciliary function contribute to the genetic and clinical heterogeneity of JBTS and its subtypes. However,… read more here.
Keywords: variability joubert; joubert syndrome; heterogeneity intrafamilial; clinical heterogeneity ... See more keywords
Dissecting the clinical heterogeneity of early-onset Alzheimer’s disease
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DOI: 10.1038/s41380-022-01531-9
Abstract: Early-onset Alzheimer’s disease (EOAD) is a rare but particularly devastating form of AD. Though notable for its high degree of clinical heterogeneity, EOAD is defined by the same neuropathological hallmarks underlying the more common, late-onset… read more here.
Keywords: onset alzheimer; early onset; eoad; alzheimer disease ... See more keywords
The impact of clinical heterogeneity on conducting network meta-analyses in transthyretin amyloidosis with polyneuropathy
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DOI: 10.1080/03007995.2020.1725742
Abstract: Abstract Objective: The comparative safety and efficacy of tafamidis, patisiran and inotersen treatments for transthyretin amyloidosis with polyneuropathy (ATTR-PN) has not been evaluated in clinical trials. In the absence of head-to-head evidence, indirect treatment comparisons… read more here.
Keywords: meta analyses; heterogeneity; transthyretin amyloidosis; clinical heterogeneity ... See more keywords
Clinical heterogeneity of NADSYN1‐associated VCRL syndrome
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DOI: 10.1111/cge.14328
Abstract: The NADSYN1 gene [MIM*608285] encodes the NAD synthetase 1 enzyme involved in the final step of NAD biosynthesis, crucial for cell metabolism and organ embryogenesis. Perturbating the role of NAD biosynthesis results in the association… read more here.
Keywords: clinical heterogeneity; heterogeneity nadsyn1; nadsyn1 associated; nad deficiency ... See more keywords
Running away from clinical heterogeneity
Sign Up to like & getrecommendations! Published in 2023 at "British Journal of Sports Medicine"
DOI: 10.1136/bjsports-2023-106715
Abstract: As the Danish proverb goes: ‘It’s difficult to make predictions, especially about the future.’ To the average clinician, it certainly might seem that way when it comes to predicting which runners will get injured. The… read more here.
Keywords: heterogeneity; clinical heterogeneity; away clinical; running away ... See more keywords
Clinical heterogeneity between two subgroups of patients with idiopathic orbital inflammation
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Open Ophthalmology"
DOI: 10.1136/bmjophth-2022-001005
Abstract: Objective Idiopathic orbital inflammation (IOI) is a group of orbital inflammatory diseases of unknown etiopathogenesis. We investigated whether patients with IOI have clinical heterogeneity based on the presence (typical group) or absence (atypical group) of… read more here.
Keywords: clinical heterogeneity; two subgroups; orbital inflammation; group ... See more keywords
Mechanisms of allelic and clinical heterogeneity of lamin A/C phenotypes
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DOI: 10.1152/physiolgenomics.00128.2017
Abstract: Mutations in the lamin A/C (LMNA) gene cause a broad range of clinical syndromes that show tissue-restricted abnormalities of post mitotic tissues, such as muscle, nerve, heart, and adipose tissue. Mutations in other nuclear envelope… read more here.
Keywords: heterogeneity lamin; nuclear envelope; mechanisms allelic; allelic clinical ... See more keywords
Clinical Heterogeneity of Differentiated Thyroid Cancer between Children Less than 10 Years of Age and Those Older than 10 Years: A Retrospective Study of 70 Cases
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DOI: 10.1159/000516830
Abstract: Objectives: The objectives of this study were to explore the clinical heterogeneity of differentiated thyroid cancer (DTC) between prepubertal children and adolescents and guide clinical treatment. Methods: A retrospective study included patients with DTC aged… read more here.
Keywords: heterogeneity differentiated; age; differentiated thyroid; thyroid cancer ... See more keywords
Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity
Sign Up to like & getrecommendations! Published in 2023 at "Stroke"
DOI: 10.1161/strokeaha.122.040715
Abstract: Background: Recently, common genetic risk factors for intracranial aneurysm (IA) and aneurysmal subarachnoid hemorrhage (ASAH) were found to explain a large amount of disease heritability and therefore have potential to be used for genetic risk… read more here.
Keywords: risk score; clinical heterogeneity; risk; prediction ... See more keywords
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
Sign Up to like & getrecommendations! Published in 2017 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000208
Abstract: Objective: To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss genotype-phenotype relations. Methods: We describe 9… read more here.
Keywords: phenotype genotype; heterogeneity phenotype; muscle; genotype ... See more keywords