Results 151 to 160 of about 11,109,446 (394)

Functional Connectivity Associations With Markers of Disease Progression in GRN Pathogenic Variant Carriers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autosomal dominant progranulin (GRN) pathogenic variants are a genetic cause of frontotemporal lobar degeneration. Though clinical trials for GRN‐related therapies are underway, there is an unmet need for biomarkers that can predict symptom onset and track disease progression.
Taru M. Flagan   +46 more
wiley   +1 more source

Chronic Pain in Parkinson’s Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Chronic pain affected 66.2% of 10,631 individuals with Parkinson's disease, with higher prevalence and severity in females. Pain most often involved the buttocks, lower back, neck, and knees, and was linked to depression, sleep disorders, and osteoarthritis.
Natalia S. Ogonowski   +13 more
wiley   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu   +5 more
wiley   +1 more source

The Chromosome Number and rDNA Loci Evolution in Onobrychis (Fabaceae). [PDF]

open access: yesInt J Mol Sci, 2022
Yucel G   +5 more
europepmc   +1 more source

Molecular studies of Arabidopsis and Brassica with focus on resistance to Leptosphaeria maculans [PDF]

open access: yes, 2001
Blackleg caused by Leptosphaeria maculans is a widespread fungal disease on B~assica napus (oilseed rape). In contrast, Arabidopsis thaliana and B. nigra are in general highly resistant. This study presents results from genomic interaction between the A.
Bohman, Svante
core  

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco   +18 more
wiley   +1 more source

KARYOTYPES AND MORPHOLOGICAL VARIABILITY OF CRAYFISH PONTASTACUS LEPTODACTYLUS AND P. ANGULOSUS (MALACOSTRACA, DECAPODA) [PDF]

open access: yes, 2013
The existence on the territory of Ukraine of two sympatric widespread species definitely different by their chromosome number was proved based on the meiotic chromosome preparations.
Гарбар, О. В.   +2 more
core  

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini   +13 more
wiley   +1 more source

Chromosome studies in Orchidaceae from Argentina

open access: yesGenetics and Molecular Biology, 2009
The center of diversity of Argentinean orchids is in the northeast region of the country. Chromosome numbers and karyotype features of 43 species belonging to 28 genera are presented here.
Julio Rubén Daviña   +6 more
doaj  

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