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Results 101 to 110 of about 135,110 (255)

Nail Lichen Planus in Children ‐ Epidemiology, Pathogenesis, Clinical Presentation, and Treatment

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail lichen planus (NLP) is a chronic inflammatory disorder that, while rare in children compared to adults, represents a significant cause of pediatric nail dystrophy that requires early recognition to prevent permanent scarring and nail loss.
Francesca Pampaloni, Matilde Iorizzo
wiley +1 more source

Progressive Supranuclear Palsy in India: Insights from a Large Multicenter Clinical Cohort (Project PAIR‐PSP)

Movement Disorders Clinical Practice, EarlyView.
Background Progressive supranuclear palsy (PSP) is a rare and devastating tauopathy with limited global data. Given India's large population, genetic diversity, and clinical heterogeneity, large multicenter datasets are crucial to enrich global understanding of PSP. Objective To characterize the demographic, clinical, and phenotypic profiles of a large
Prashanth Lingappa Kukkle +31 more
wiley +1 more source

Effect of COMT and UGT1A Variants on Clinical Response to Opicapone in Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is the second most common neurodegenerative disease. Symptomatic treatment is based on dopaminergic replacement. With disease progression, the initial benefit of levodopa becomes inconsistent, and motor complications emerge.
Elena Ojeda‐Lepe +15 more
wiley +1 more source

Co‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review

Movement Disorders, EarlyView.
Abstract Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.
Michele Matarazzo +10 more
wiley +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer +15 more
wiley +1 more source

Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen +320 more
wiley +1 more source

Haplotyping

Indian Journal of Medical Research, 2018
openaire +1 more source

DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort

Movement Disorders, EarlyView.
Abstract Background DNAJC13 was initially linked to autosomal dominant (AD) Parkinson's disease (PD) in a European Mennonite family carrying the p.N855S variant. However, imperfect segregation and conflicting reports of pathogenicity raised uncertainty of the role of DNAJC13 in the disease.
César Luis Ávila +11 more
wiley +1 more source

Multiple Origins of a Sex Ratio Supergene in Formica Ants. [PDF]

Mol Biol Evol
Lagunas-Robles G, Purcell J, Shimota E, Brelsford A. +3 more
europepmc +1 more source

Haplotype [PDF]

, 2020
openaire +1 more source

haplotypes
humans
algorithms

genotype
models, genetic
linkage disequilibrium

polymorphism, single nucleotide
genetic diversity
genetics, population