Results 131 to 140 of about 633,120 (300)
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
Association of the rs6903608 SNP alleles with HLA alleles in 278 cHL patients.
, 2012 *Indicated are the number of alleles (the total number of alleles is 556).
Ilby Bouwman (151981) +14 more
core +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
, 2013 Distribution of flaA-SVR alleles detected according to source, (asterisks signify new flaA-SVR alleles).
Séamus Fanning (65735) +4 more
core +1 more source
Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li +17 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß +22 more
wiley +1 more source
Polymorphism of the BoLA-DRB3 gene in the Ukrainian brown breed
Біологія тваринThe article presents the results of a study of polymorphism in the Ukrainian Brown breed (UB) for the BoLA-DRB3 gene. Experimental data were obtained using the PCR-PCRF method.
N. B. Mokhnachova +2 more
doaj +1 more source
Arthritis Care &Research, EarlyView.Biomedical research involving US veterans continues to advance health care beyond the Veterans Health Administration. This is particularly true in rheumatoid arthritis (RA), where veteran‐centric research has uncovered novel insights into pathogenesis, risk factors, and disease manifestations, informing clinical care and research across both veteran ...
Austin M. Wheeler +20 more
wiley +1 more source
Romanian Journal of HorticultureThe development of molecular marker technology in the late 20th century has revolutionized plant breeding, particularly for minor species that previously lacked sufficient data.
Emilia Moisescu +5 more
doaj +1 more source