Results 281 to 290 of about 904,478 (347)
Abstract Purpose Histotripsy is a focal tumor therapy that utilizes focused ultrasound (US) to mechanically destroy tissue. To overcome visualization limitations of diagnostic US‐guidance, C‐arm cone beam CT (CBCT)‐guided histotripsy is being developed, for which a mobile C‐arm could increase accessibility. CBCT‐guided histotripsy uses a phantom with a
Grace M. Minesinger+5 more
wiley +1 more source
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao+34 more
wiley +1 more source
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
Spinal Cord Abnormalities in Early Pediatric Multiple Sclerosis
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
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
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
Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech
ABSTRACT Individuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms.
Gabriela Meade+8 more
wiley +1 more source
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis
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
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