Results 121 to 130 of about 1,047,550 (296)
PLASMA PROTEIN PRODUCTION AS INFLUENCED BY PARENTERAL PROTEIN DIGESTS, VERY HIGH PROTEIN FEEDING, AND RED BLOOD CELL CATABOLISM [PDF]
, 1945 S. C. Madden +4 more
openalex +1 more source
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.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
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
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
IN VITRO STUDIES WITH 16-C14-ESTRONE: DISTRIBUTION BETWEEN PLASMA AND RED BLOOD CELLS OF MAN* [PDF]
, 1959 Patricia E. Wall, Claude J. Migeon
openalex +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
Blood from the tube –cultivation of red cells in vitro
Zdravniški Vestnik, 2014 Red cell transfusion is an established mode of therapy. Growing demand for red cell concentrates due to ageing population will in the next decades drive the introduction of new approaches in blood supply. In vitro red cell culturing is one of them.
Primož Poženel, Primož Rožman
doaj
Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano +15 more
wiley +1 more source
THE EFFECT OF VALENCY OF CATIONS AND ANIONS ON NEGATIVELY AND POSITIVELY CHARGED RED BLOOD CELLS [PDF]
, 1924 Jean Oliver, Leonard Barnard
openalex +1 more source