Results 31 to 40 of about 409,422 (304)
Spinocerebellar Ataxia Type 2 [PDF]
, 2012 1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg +3 more
core +1 more source
Loss of intranetwork and internetwork resting state functional connections with Alzheimer\u27s disease progression [PDF]
, 2012 Alzheimer\u27s disease (AD) is the most common cause of dementia. Much is known concerning AD pathophysiology but our understanding of the disease at the systems level remains incomplete.
Ances, Beau M +8 more
core +2 more sources
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
BMC Medical Genetics, 2020 Background Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction.
Peter Sparber +6 more
doaj +1 more source
Evaluating elbow osteoarthritis within the prehistoric Tiwanaku state using generalized estimating equations (GEE). [PDF]
, 2019 OBJECTIVES:Studies of osteoarthritis (OA) in human skeletal remains can come with scalar problems. If OA measurement is noted as present or absent in one joint, like the elbow, results may not identify specific articular pathology data and the sample ...
Bass W. M. +21 more
core +1 more source
Genotype–Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry [PDF]
Journal of Personalized Medicine, 2020 Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder generally caused by out-of-frame mutations in the DMD gene. In contrast, in-frame mutations usually give rise to the milder Becker muscular dystrophy (BMD). However, this reading frame rule does not always hold true. Therefore, an understanding of the relationships between genotype and
Kenji Rowel Q. Lim +2 more
openaire +2 more sources
Molecular Genetics and Metabolism Reports, 2020 Background: Previous estimates of the prevalence of Menkes disease, a lethal X-linked recessive disorder of copper metabolism, were based on confirmed clinical cases ascertained from specific populations and varied from 1 in 40,000 to 1 in 354,507.
Stephen G. Kaler +2 more
doaj +1 more source
Atrioventricular Septal Defect: What Is in a Name?
Journal of Cardiovascular Development and Disease, 2021 Robert Anderson has made a huge contribution to almost all aspects of morphology and understanding of congenital cardiac malformations, none more so than the group of anomalies that many of those in the practice of paediatric cardiology and adult ...
Michael Rigby
doaj +1 more source
Frontiers in Immunology, 2021 Autoimmune and autoinflammatory diseases are rare but often devastating disorders, underpinned by abnormal immune function. While some autoimmune disorders are thought to be triggered by a burden of infection throughout life, others are thought to be ...
Holly A. Rutherford +3 more
doaj +1 more source
Pitfalls associated with the use of molecular diagnostic panels in the diagnosis of cryptococcal meningitis [PDF]
, 2017 We report the case of a kidney transplantation patient on chronic immunosuppressive therapy presenting with subacute meningitis. The final diagnosis of cryptococcal meningitis was delayed due to 2 false-negative cryptococcal results on a molecular ...
Burnham, Carey-Ann +5 more
core +2 more sources
Frontiers in Pediatrics, 2023 IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe ...
Aydan Kansu +93 more
doaj +1 more source