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| http://dx.doi.org/10.1212/NXG.0000000000000346 | DOI Listing |
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The RAB32 p.Ser71Arg Variant in Parkinsonisms: Insights from a Large Italian Cohort.
Mov Disord
December 2024
Department of Biomedical Sciences, Humanitas University, Milan, Italy.
Background And Objective: Recently, RAB32 has been identified as possibly linked to Parkinson's disease. We studied the prevalence and clinical correlates of the p.Ser71Arg variant in the RAB32 gene in a large case series of Italian patients with Parkinson's disease or atypical parkinsonism.
View Article and Find Full Text PDFWhole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle.
Sci Rep
December 2024
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, 3012, Switzerland.
Bovine spastic syndrome (SS) is a progressive, adult-onset neuromuscular disorder (NMD). SS is inherited but the mode of inheritance is unclear. The aim of this study was to characterize the phenotype and to identify a possible genetic cause of SS by whole-genome sequencing (WGS) and focusing on protein-changing variants.
View Article and Find Full Text PDFFamily Genetic Risk Communication and Reverse Cascade Testing in the BabySeq Project.
Genet Med
December 2024
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.
Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.
Introduction: GNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.
Methods: In this study, we investigated the allele frequency of the c.
Comparison of Pediatric- and Adult-Onset Mycosis Fungoides Patients in Terms of Clinical Features and Prognosis in a Large Series.
J Cutan Med Surg
December 2024
Department of Dermatology and Venereology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Background: Studies comparing the clinical and prognostic differences between pediatric- and adult-onset mycosis fungoides (MF) are limited.
Objectives: To determine the impact of childhood-onset MF on clinical features and disease course in a large series.
Methods: Consecutive MF patients seen in a single centre between 2007 and 2021 were categorized into 3 groups: (i) MF patients diagnosed in the pediatric ages (≤18 years) (pediatric group), (ii) MF patients with disease onset in the pediatric period and diagnosis in adulthood (lately diagnosed pediatric-onset group), and (iii) MF patients with disease onset in the adulthood period (>18 years) (adult-onset group).
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