Results 231 to 240 of about 5,180,562 (321)

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang   +11 more
wiley   +1 more source

Association of the ICH Score With Withdrawal of Life‐Sustaining Treatment Over a 10‐Year Period

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The intracerebral hemorrhage (ICH) score was developed to enhance provider communication and facilitate early severity assessment. We examined the association of the ICH score with mortality and withdrawal of life‐sustaining treatment (WLST) in a large, multicenter stroke registry, and evaluated temporal trends in these associations.
Nina Massad   +15 more
wiley   +1 more source

Effect of the social environment on olfaction and social skills in wild-type and a mouse model of autism. [PDF]

open access: yesTransl Psychiatry
Gora C   +15 more
europepmc   +1 more source

Digital Activity Markers in Chronic Inflammatory Demyelinating Polyneuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the utility of smartwatch and smartphone‐based activity metrics for assessing disease severity and quality of life in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods In the electronic monitoring of disease activity in patients with CIDP (EMDA‐CIDP) trial, we performed a prospective ...
Lars Masanneck   +15 more
wiley   +1 more source

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó   +17 more
wiley   +1 more source

The evolution of sex roles: The importance of ecology and social environment. [PDF]

open access: yesProc Natl Acad Sci U S A
Fresneau N   +5 more
europepmc   +1 more source

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