Tremor and Movement Slowness Are Two Unrelated Adverse Effects Induced by Valproate Intake
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13560
Abstract: To date, only a few clinical and neurophysiological studies have assessed the features of valproate‐induced tremor (VIT), and whether valproate (VPA) affects voluntary movements is underinvestigated. read more here.
Keywords: tremor; tremor movement; movement; two unrelated ... See more keywords
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2016.164
Abstract: GATA zinc finger domain-containing 2B (GATAD2B) is a subunit of the methyl-CpG-binding protein-1 complex (MECP1), which deacetylates methylated nucleosomes and regresses transcriptional activity. Recently, GATAD2B has been elucidated as a candidate gene in patients with… read more here.
Keywords: unrelated cases; intellectual disability; gatad2b loss; two unrelated ... See more keywords
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families
Sign Up to like & getrecommendations! Published in 2022 at "Neuropediatrics"
DOI: 10.1055/a-1947-8411
Abstract: Abstract Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features.… read more here.
Keywords: spanish families; two unrelated; phenotypic spectrum; unrelated spanish ... See more keywords
Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients
Sign Up to like & getrecommendations! Published in 2019 at "Neuropediatrics"
DOI: 10.1055/s-0039-1679911
Abstract: Abstract Leukodystrophies are heterogeneous group of genetic white matter disorders with a wide range of neurologic and systemic manifestations. Defects in genes encoding aminoacyl tRNA (transfer ribonucleic acid) synthetase enzymes (aaRSs) are recently identified as… read more here.
Keywords: hypomyelinating leukodystrophy; cord; two unrelated; cord involvement ... See more keywords
Molecular basis for lethal cross-talk between two unrelated bacterial transcription factors - the regulatory protein of a restriction-modification system and the repressor of a defective prophage
Sign Up to like & getrecommendations! Published in 2022 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkac914
Abstract: Abstract Bacterial gene expression depends on the efficient functioning of global transcriptional networks, however their interconnectivity and orchestration rely mainly on the action of individual DNA binding proteins called transcription factors (TFs). TFs interact not… read more here.
Keywords: two unrelated; regulatory protein; repressor defective; transcription factors ... See more keywords
Detection and Gene Mutation Analysis of Three Variations in Two Unrelated Chinese Hereditary Coagulation Factor XI Deficiency Families
Sign Up to like & getrecommendations! Published in 2022 at "Acta Haematologica"
DOI: 10.1159/000526043
Abstract: Introduction: Three variations including a novel F11 gene variation were detected in two unrelated Chinese families with coagulation factor XI deficiency, and their possible pathogenesis was elucidated. Methods: The genomic DNA of the probands’ pedigrees… read more here.
Keywords: three variations; two unrelated; unrelated chinese; coagulation factor ... See more keywords
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report
Sign Up to like & getrecommendations! Published in 2019 at "BMC Neurology"
DOI: 10.1186/s12883-019-1489-x
Abstract: BackgroundWe encountered two unrelated individuals suffering from neurological disorders, including epilepsy and scoliosis.Case presentationWhole-exome sequencing identified the same recurrent, de novo, pathogenic variant in NUS1 [NM_138459.4:c.691 + 1C > A] in both individuals. This variant is located in the… read more here.
Keywords: unrelated individuals; scoliosis case; splice donor; scoliosis ... See more keywords
A whole genome sequencing approach to anterior cruciate ligament rupture–a twin study in two unrelated families
Sign Up to like & getrecommendations! Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0274354
Abstract: Predisposition to anterior cruciate ligament (ACL) rupture is multi-factorial, with variation in the genome considered a key intrinsic risk factor. Most implicated loci have been identified from candidate gene-based approach using case-control association settings. Here,… read more here.
Keywords: twin; two unrelated; non contact; acl rupture ... See more keywords