Paraoxonase 1 Polymorphism p.Q192R in Patients With Dementia [PDF]
, 2011 PON1 PCR-RFLP polymorphism frequency and enzyme activity were determined in 223 patients with dementia (94 with AD, 55 with VaD and 74 with MD) and in 100 age and sex matched controls without dementia.
Tomasz Krzywkowski
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NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang +7 more
wiley +1 more source
THE FAILURE OF A t-ALLELE (t3) TO SUPPRESS CROSSING OVER IN THE MOUSE [PDF]
, 1953 L. C. Dunn, Salome Gluecksohn‐Waelsch
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Splitting pairs and the number of clusters generated by random pair incompatibilities
, 2007 We consider a random fitness landscape on the space of haploid diallelic genotypes with n genetic loci, where each genotype is considered either inviable or viable depending on whether or not there are any incompatibilities among its allele pairs.
Pitman, Damien
core
Genetic Analysis of ABO and Rh Blood Groups in Brahmin Population of Uttar Pradesh, India” [PDF]
, 2011 A series of glycoprotein and glycolipids on the red blood cell surface constitute blood group antigens. These are A, B, AB and O in ABO blood group system and Rh in rhesus blood group system. These antigens are genetically controlled.
Vandana V. Rai
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Rapid adaptation of a polygenic trait after a sudden environmental shift
, 2017 Although a number of studies have shown that natural and laboratory populations initially well-adapted to their environment can evolve rapidly when conditions suddenly change, the dynamics of rapid adaptation are not well understood.
Jain, Kavita, Stephan, Wolfgang
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Central Dysmyelination in SSADH‐Deficient Humans and Mice
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer +11 more
wiley +1 more source
THE GENETIC VARIANCE OF AUTOTETRAPLOIDS WITH TWO ALLELES [PDF]
, 1957 C. C. Li
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The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To investigate whether the rs10191329 risk allele in the DYSF–ZNF638 locus, which is implicated in central nervous system resilience rather than immune‐mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS). Methods From a prospective observational study,
Gabriel Bsteh +22 more
wiley +1 more source
THE DISTRIBUTION OF SELF-STERILITY ALLELES IN POPULATIONS [PDF]
, 1939 Sewall Wright
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