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Results 101 to 110 of about 11,897 (169)

Biomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

Movement Disorders, EarlyView.
Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen +27 more
wiley +1 more source

Prognosis in Parkinson's Disease: An Individual Patient Data Meta‐Analysis of Six European Incidence Cohorts

Movement Disorders, EarlyView.
Abstract Background An accurate understanding of prognosis in Parkinson's disease (PD) is important for patient information provision, personalized treatment, and clinical trial design, but most previous research has been biased towards younger, healthier patients.
Angus D. Macleod +72 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

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan +9 more
wiley +1 more source

Engineering compact Physalis peruviana (goldenberry) to promote its potential as a global crop

PLANTS, PEOPLE, PLANET, EarlyView.
Goldenberry (Physalis peruviana) produces sweet, nutritionally rich berries, yet like many minor crops, is cultivated in limited geographical regions and has not been a focus of breeding programs for trait enhancement. Leveraging knowledge of plant architecture‐related traits from related species, we used CRISPR/Cas9‐mediated gene editing to generate a
Miguel Santo Domingo +8 more
wiley +1 more source

Speciation with gene flow

PLANTS, PEOPLE, PLANET, EarlyView.
Biodiversity is threatened by human activities, with extinction debt accumulating rapidly. Many of these activities change the connectivity of populations, fragmenting existing population systems or bringing previously isolated populations or species into contact.
Zhiqin Long +7 more
wiley +1 more source

The potential effect of megafaunal extinctions on modern conservation of horse chestnut Aesculus hippocastanum

PLANTS, PEOPLE, PLANET, EarlyView.
Many plant species worldwide are struggling to regenerate due to the ongoing effects of climate change. These effects appear to be further exacerbated by the loss of keystone megafauna, which were important seed dispersers. By identifying the traits commonly seen in seeds spread by modern elephants, it is possible to predict which species likely ...
Andrew J. Tighe
wiley +1 more source

A synthetic eco‐evolutionary proposal for the conservation of wild relatives of the olive tree

PLANTS, PEOPLE, PLANET, EarlyView.
Societal Impact Statement Crop wild relatives (CWR) are valuable sources of genetic diversity for plant breeding. However, the identification of wild untapped genetic resources (i.e., unexploited in crops) is not always straightforward. We propose a methodology to guide the identification and conservation of these resources that integrates both genetic
Andrés Barea‐Márquez +6 more
wiley +1 more source

genetic diversity
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d-loop
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