60 results on '"Winkelmann, Juliane"'
Search Results
2. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
3. Epigenetic Association Analyses and Risk Prediction of RLS
4. Challenges in establishing the diagnosis ofPRRT2‐related dystonia: recurrent pathogenic variants in a homopolymeric stretch
5. Confirmation of a Causal Role for SHQ1 Variants in Early Infantile‐Onset Recessive Dystonia
6. Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions
7. Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected
8. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
9. Progressive choreodystonia in X‐linked hyper‐IgM immunodeficiency: a rare but recurrent presentation
10. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes
11. A Novel Variant ofATP5MC3Associated with Both Dystonia and Spastic Paraplegia
12. BiallelicAOPEPLoss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
13. NR4A2and Dystonia with Dopa Responsiveness
14. Investigation of dopaminergic signalling in Meis homeobox 1 ( Meis1 ) deficient mice as an animal model of restless legs syndrome
15. Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study
16. A RecurrentEIF2AK2Missense Variant Causes Autosomal‐Dominant Isolated Dystonia
17. Loss‐of‐function variants in HOPS complex genes VPS16 and VPS41 cause early‐onset dystonia associated with lysosomal abnormalities
18. Variant recurrence confirms the existence of a FBXO31 ‐related spastic‐dystonic cerebral palsy syndrome
19. De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
20. Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
21. Reply to “Truncating VPS16 Mutations are Rare in Early‐Onset Dystonia”
22. A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From ClusteringCAMK4Variants
23. Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease
24. Identification of Restless Legs Syndrome Genes by Mutational Load Analysis
25. Reply to: Safety of dopamine agonists for treating restless legs syndrome
26. Reply to: A note on rotigotine for restless legs syndrome after renal transplantation
27. Treatment of restless legs syndrome: Evidence‐based review and implications for clinical practice (Revised 2017)§
28. Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia
29. Sleep disturbance by pramipexole is modified by Meis1 in mice
30. KMT2B rare missense variants in generalized dystonia
31. Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up
32. The clinical phenotype of early-onset isolated dystonia caused by recessiveCOL6A3mutations (DYT27)
33. TOR1A, THAP1, andGNALmutational screening in Austrian patients with primary isolated dystonia
34. Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia
35. DYT16 revisited: Exome sequencing identifiesPRKRAmutations in a European dystonia family
36. Iron in Restless Legs Syndrome
37. Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls
38. The role ofSCARB2as susceptibility factor in Parkinson's disease
39. Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation
40. PSEA: Phenotype Set Enrichment Analysis—A New Method for Analysis of Multiple Phenotypes
41. Myoclonus‐dystonia in 18p deletion syndrome
42. Short-term attention and verbal fluency is decreased in restless legs syndrome patients
43. Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome
44. Augmentation as a treatment complication of restless legs syndrome: Concept and management
45. Animal studies in restless legs syndrome
46. Clinical trials in restless legs syndrome—Recommendations of the European RLS Study Group (EURLSSG)
47. Genetics of restless legs syndrome (RLS): State-of-the-art and future directions
48. Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population
49. Evidence for further genetic locus heterogeneity and confirmation of RLS‐1 in restless legs syndrome
50. Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.