Associated Papers
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Fatal Tracheostomy-Related Complications in a Pediatric Patient with DYT1 Dystonia After Delayed Deep Brain Stimulation.
Wang CE et al.
Cureus, 2026
Clinical, Radiological and Therapeutic Profile of Patients With DYT-TOR1A from a single tertiary care centre in India, with a literature review of the MDSGene Asian cohort.
Farsana MK et al.
Journal of Movement Disorders, 2025
Spectrum of Inherited Childhood-Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable Causes.
Adarsha N et al.
Clinical Genetics, 2025
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Pérez-Vidarte F et al.
Annals of Clinical and Translational Neurology, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.
Anis S et al.
Parkinsonism & Related Disorders, 2025
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism.
Kafantari E et al.
Parkinsonism & Related Disorders, 2025
Genome Aggregation Database Version 4-Allele Frequency Changes and Impact on Variant Interpretation in Dystonia.
Indelicato E et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Decoding the Alphabet Soup: A Practical Guide to Genetic Testing in Hyperkinetic Movement Disorders.
Del Gamba C et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Generation of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patient.
Tanzer K et al.
Stem Cell Research, 2024
ACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy.
Filippi C et al.
American Journal of Medical Genetics. Part A, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Thomsen M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India.
Dhar D et al.
Parkinsonism & Related Disorders, 2024
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A et al.
Brain : a Journal of Neurology, 2023
Mechanisms underlying phenotypic variation in neurogenetic disorders.
Burgunder JM
Nature Reviews. Neurology, 2023
Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia.
Li LX et al.
Clinical Genetics, 2023
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI et al.
Genes, 2023
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Generation of gene-corrected isogenic control cell lines from a DYT1 dystonia patient iPSC line carrying a heterozygous GAG mutation in TOR1A gene.
Akter M et al.
Stem Cell Research, 2022
Patient-derived cells - an irreplaceable tool for research of reduced penetrance in movement disorders.
Seibler P et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2022
Clinical relevance and translational impact of reduced penetrance in genetic movement disorders.
Heinzel S et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.
Holla VV et al.
Journal of Movement Disorders, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Phenotypic and Genetic Complexity in Pediatric Movement Disorders.
Kim MJ et al.
Frontiers in Genetics, 2022
Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line.
Akter M et al.
Stem Cell Research, 2021
Monozygotic twins with DYT-TOR1A showing jerking movements and levodopa responsiveness.
Hanaoka Y et al.
Brain & Development, 2021
Generation of patient-specific induced pluripotent stem cell line (CSUi002-A) from a patient with isolated dystonia carrying TOR1A mutation.
Wu J et al.
Stem Cell Research, 2021
Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
Gómez-Garre P et al.
European Journal of Neurology, 2021
Challenges in Clinicogenetic Correlations: One Gene - Many Phenotypes.
Magrinelli F et al.
Movement Disorders Clinical Practice, 2021
The importance of genetic testing for dystonia patients and translational research.
Pozojevic J et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Atypical presentations of DYT1 dystonia with acute craniocervical onset.
Pavelekova P et al.
Parkinsonism & Related Disorders, 2021
Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.
Marogianni C et al.
Molecular Biology Reports, 2021
Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family.
Zhu F et al.
Frontiers in Genetics, 2021
AsCRISPR: A Web Server for Allele-Specific Single Guide RNA Design in Precision Medicine.
Zhao G et al.
The Crispr Journal, 2020