Associated Papers
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
Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.
Ceraolo G et al.
Life (basel, Switzerland), 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 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
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Genetic testing for non-parkinsonian movement disorders: Navigating the diagnostic maze.
Shambetova C et al.
Parkinsonism & Related Disorders, 2024
Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.
Gardi N et al.
Cancer Research Communications, 2024
Genetics and Pathogenesis of Dystonia.
Thomsen M et al.
Annual Review of Pathology, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
DYT-TOR1A dystonia: an update on pathogenesis and treatment.
Fan Y et al.
Frontiers in Neuroscience, 2023
Genomic, transcriptomic and RNA editing analysis of human MM1 and VV2 sporadic Creutzfeldt-Jakob disease.
Tarozzi M et al.
Acta Neuropathologica Communications, 2022
Effect Modification between Genes and Environment and Parkinson's Disease Risk.
Periñán MT et al.
Annals of Neurology, 2022
Dystonia Diagnosis: Clinical Neurophysiology and Genetics.
di Biase L et al.
Journal of Clinical Medicine, 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
Second hit hypothesis in dystonia: Dysfunctional cross talk between neuroplasticity and environment?
Rauschenberger L et al.
Neurobiology of Disease, 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
CNS critical periods: implications for dystonia and other neurodevelopmental disorders.
Li J et al.
Jci Insight, 2021
Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.
Giri S et al.
Journal of Molecular Neuroscience : Mn, 2021
Combined occurrence of deleterious TOR1A and ANO3 variants in isolated generalized dystonia.
Miocinovic S et al.
Parkinsonism & Related Disorders, 2020
Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort.
Tsuboi T et al.
Frontiers in Human Neuroscience, 2020
Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment.
Park J et al.
Neurology. Genetics, 2019
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Tan MMX et al.
Brain : a Journal of Neurology, 2019
Advances in molecular and cell biology of dystonia: Focus on torsinA.
Gonzalez-Alegre P
Neurobiology of Disease, 2019
Diagnosis and treatment of pediatric onset isolated dystonia.
Zorzi G et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
Kariminejad A et al.
Brain : a Journal of Neurology, 2017
Genetic variation associated with the occurrence and progression of neurological disorders.
Little J et al.
Neurotoxicology, 2017
New THAP1 mutation and role of putative modifier in TOR1A.
Piovesana LG et al.
Acta Neurologica Scandinavica, 2017
The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis.
Siokas V et al.
Plos One, 2017
Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.
Demircioglu FE et al.
Elife, 2016
Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population.
Wang L et al.
Clinical Neurology and Neurosurgery, 2016
Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?
Verbeek DS et al.
Frontiers in Neurology, 2016
Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.
Dobričić V et al.
Parkinsonism & Related Disorders, 2015
Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.
John SE et al.
Genomics Data, 2015
TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia.
Timerbaeva SL et al.
The International Journal of Neuroscience, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A.
Hettich J et al.
Human Mutation, 2014
Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.
Vulinovic F et al.
Human Mutation, 2014
DRD1 rare variants associated with tardive-like dystonia: a pilot pathway sequencing study in dystonia.
Groen JL et al.
Parkinsonism & Related Disorders, 2014
The BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia.
Zacchi LF et al.
The Journal of Biological Chemistry, 2014
Dystonia--new advances in classification, genetics, pathophysiology and treatment.
Skogseid IM
Acta Neurologica Scandinavica. Supplementum, 2014
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013