Results 241 to 250 of about 1,113,115 (292)

Mapping phenotypic heterogeneity and cardiometabolic risk in obesity using a tree-based dimensionality reduction framework. [PDF]

open access: yesJ Transl Med
Zhao Y   +10 more
europepmc   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou   +6 more
wiley   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang   +13 more
wiley   +1 more source

Data‐Driven SuStaIn Model of Disability Progression in Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether ordinal Subtype and Stage Inference (SuStaIn) applied to routine ALSFRS‐R item scores can identify reproducible disability progression patterns in amyotrophic lateral sclerosis (ALS) and provide clinically meaningful staging.
Giammarco Milella   +5 more
wiley   +1 more source

From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity. [PDF]

open access: yesBr J Haematol
Dellal H   +10 more
europepmc   +1 more source

Phenotypic heterogeneity in adenomyosis: internal and external subtypes. [PDF]

open access: yesArch Gynecol Obstet
Liang Y   +5 more
europepmc   +1 more source

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