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
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Statistical Study of Scarlet Fever and Diphtheria. With special reference to (1) Changes in the Age Distribution of Mortality; (2) Effect of Isolation on the Prevalence and Mortality from Scarlet Fever [PDF]
, 1928 Hilda M. Woods
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Basic principles of genetics and genetic counselling
Indian Pacing and Electrophysiology JournalGenetic counselling and testing is a fast growing field in modern medicine. Genetic analysis can aid in the diagnosis, treatment, management and prevention of (genetic) diseases in patients.
Nina J. Beelen +2 more
doaj
Effect of maternal factors on nutritional status of 1-5-year-old children in urban slum population
Indian Journal of Community Medicine, 2007 Objective: To study the effect of various maternal factors on the prevalence of underweight and stunting among 1-5-year-old children in urban slum population. Design: Cross-sectional study. Materials and Methods: The study was carried out in three urban
Mittal A, Ahluwalia S, Singh J
doaj
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
Prevalence of Arthritis and Rheumatism in the United States [PDF]
, 1952 Theodore D. Woolsey
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Infectio, 2010 Introducción: Los parásitos intestinales se consideran un problema de salud pública en los países en desarrollo y afecta a individuos de todas las edades y sexos, pero se presentan, sobre todo, en los primeros años de vida.
Jonathan Andrés Arias +4 more
doaj
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
THE HISTORY, PREVALENCE AND PREVENTION OF RABIES AND ITS RELATION TO ANIMAL EXPERIMENTATION
, 1910 Langdon Frothingham
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Relative Prevalence of Potato Flea Beetle Injuries in Fields Adjoining Uncultivated Areas [PDF]
, 1940 D. O. Wolfenbarger
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