Results 271 to 280 of about 10,834,348 (379)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
On Shinshu Propagation in Eastern Districts during the Middle Ages
, 1956 Junko Matsuno
openalex +2 more sources
Mondino de Luzzi: a luminous figure in the darkness of the Middle Ages. [PDF]
Croat Med J, 2014 Mavrodi A, Paraskevas G.
europepmc +1 more source
Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki +5 more
wiley +1 more source
Spinal Cord Abnormalities in Early Pediatric Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Spinal cord lesions and atrophy in the cervical region are common in adult multiple sclerosis (MS) and correlate with disability. Whether similar abnormalities occur in pediatric MS patients is largely unknown. Clinical and MRI evaluations were performed in 38 pediatric MS patients and 13 healthy controls (HC).
Monica Margoni +7 more
wiley +1 more source
Dante and asthenopia: a modern visual problem described during the Middle Ages. [PDF]
Eye (Lond), 2014 Riva MA, Arpa C, Gioco M.
europepmc +1 more source
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini +24 more
wiley +1 more source
CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu +12 more
wiley +1 more source