Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng +6 more
wiley +1 more source
THE DISTRIBUTION OF SELF-STERILITY ALLELES IN POPULATIONS [PDF]
, 1939 Sewall Wright
openalex +1 more source
Post-meiotic apozygotic combinatory process in sugar beet (Beta vulgaris L.) [PDF]
, 2011 The effect of colchicine on phenotypic classes ratio of the enzyme locus controlling alcohol dehydrogenase (ADH1) in sugar beet agamospermous progenies was analyzed.
Evgenii Levites, Svetlana Kirikovich
core +1 more source
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier +20 more
wiley +1 more source
On Wild-Type Iso-Alleles in Drosophila Melanogaster [PDF]
, 1943 Curt Stern, Elizabeth White Schaeffer
openalex +1 more source
RNA Levels and Activity of \u3cem\u3eFLOWERING LOCUS C\u3c/em\u3e are Modified in Mixed Genetic Backgrounds of \u3cem\u3eArabidopsis Thaliana\u3c/em\u3e [PDF]
, 2001 Flowering time and FLOWERING LOCUS C (FLC) RNA levels were analyzed in different accessions of Arabidopsis thaliana and in mixed genetic backgrounds resulting from crosses between accessions.
Schläppi, Michael
core +1 more source
Early BMI Change, Cognitive Decline, and CSF AD Biomarkers Alterations in Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the relationship of early BMI change with subsequent cognitive decline, CSF AD biomarkers alterations, and progression to dementia in patients with PD. Methods Study data were prospectively collected from the PPMI cohort. Weight/height data at enrollment and second‐year clinical visit were utilized to calculate BMI change.
Rui Zhong, Kezhong Zhang
wiley +1 more source
GENIC ACTION AS STUDIED BY MEANS OF THE EFFECTS OF DIFFERENT DOSES AND COMBINATIONS OF ALLELES [PDF]
, 1943 Curt Stern
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Epitope Mapping of Anti‐Neurofascin 155 Antibody in a Large Cohort of Autoimmune Nodopathy Patients
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Autoimmune nodopathy (AN), a newly recognized disease entity, is an immune‐mediated polyneuropathy involving autoantibodies against cell adhesion molecules located in nodes of Ranvier and paranodal regions, such as neurofascin 186 (NF186) and neurofascin 155 (NF155). The present study aimed to identify the epitopes for autoantibodies
Amina A. Abdelhadi +6 more
wiley +1 more source
EFFECT OF THE DE17 ALLELE ON DEVELOPMENT OF THE MAIZE CARYOPSIS [PDF]
, 1947 R. A. Brink, D. C. Cooper
openalex +1 more source