Cognitive impairment patterns and associated clinical and imaging characteristics in young patients with Sturge-Weber syndrome. [PDF]
Keramane HZ +3 more
europepmc +1 more source
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma +16 more
wiley +1 more source
A rare cause of neonatal respiratory distress: Jeune syndrome. [PDF]
El Aouadi S +6 more
europepmc +1 more source
A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley +1 more source
Semilobar holoprosencephaly associated with maternal diabetes in a toddler: A case report. [PDF]
Çelik C, Mirre F, İbrahim İG.
europepmc +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
CT perfusion abnormalities in status epilepticus: associations with clinical characteristics, EEG, and outcome measures. [PDF]
Baysal L +5 more
europepmc +1 more source
Lung Ultrasound Abnormalities and LUS Score After COVID-19 Pneumonia: Determinants and Associations with Dyspnoea in a Prospective Cohort. [PDF]
Navarro-Romero F +5 more
europepmc +1 more source
Early electrocardiographic changes associated with anticancer chemotherapy in a Sub-Saharan African population: a prospective cohort study. [PDF]
Guimeya M +10 more
europepmc +1 more source

