1,022 results on '"Winkelmann, Juliane"'
Search Results
152. DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family
153. MATR3 haploinsufficiency and early-onset neurodegeneration
154. NR4A2and Dystonia with Dopa Responsiveness
155. Investigation of dopaminergic signalling in Meis homeobox 1 ( Meis1 ) deficient mice as an animal model of restless legs syndrome
156. The Role of Patient Navigators in Ambulatory Care: Overview of Systematic Reviews
157. Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability
158. Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study
159. A RecurrentEIF2AK2Missense Variant Causes Autosomal‐Dominant Isolated Dystonia
160. HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia
161. DNAm-based signatures of accelerated aging and mortality in blood are associated with low renal function
162. Methylation status of nc886 epiallele reflects periconceptional conditions and is associated with glucose metabolism through nc886 RNAs
163. Loss‐of‐function variants in HOPS complex genes VPS16 and VPS41 cause early‐onset dystonia associated with lysosomal abnormalities
164. Häufig ist Eisenmangel die Ursache: Therapie des sekundären Restless-Legs-Syndroms
165. When Parkinson’s disease patients go to sleep: specific sleep disturbances related to Parkinson’s disease
166. Parkinson’s disease risk score: moving to a premotor diagnosis
167. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia
168. Private variants in PRKN are associated with late-onset Parkinson's disease
169. Narcolepsy is a common phenotype in HSAN IE and ADCA-DN
170. Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy
171. Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls
172. Recent advances in the diagnosis, genetics and treatment of restless legs syndrome
173. Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13
174. Genetics of restless legs syndrome
175. Intronic elements associated with insomnia and restless legs syndrome exhibit cell-type-specific epigenetic features contributing to MEIS1 regulation.
176. Variant recurrence confirms the existence of a FBXO31 ‐related spastic‐dystonic cerebral palsy syndrome
177. De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
178. A Country Level Analysis Comparing Hospital Capacity and Utilisation During the First COVID-19 Wave Across Europe
179. Adjusting hospital inpatient payment systems for COVID-19
180. Confirmation of a Causal Role for SHQ1 Variants in Early Infantile‐Onset Recessive Dystonia.
181. Begutachtung des Restless Legs Syndroms—Zusammenfassung der Konsensusempfehlung
182. Genetics of Sleep and Sleep Disorders
183. Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
184. Diagnostic Standards for Dopaminergic Augmentation of Restless Legs Syndrome: Report from a World Association of Sleep Medicine – International Restless Legs Syndrome Study Group Consensus Conference at the Max Planck Institute
185. Reply to “Truncating VPS16 Mutations are Rare in Early‐Onset Dystonia”
186. A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From ClusteringCAMK4Variants
187. Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
188. Therapeutic effectiveness of thalidomide in a patient with treatment-resistant restless legs syndrome
189. The role of SCARB2 as susceptibility factor in Parkinsonʼs disease
190. Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation
191. Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis
192. Genetics of sleep disorders
193. Indications for performing polysomnography in the diagnosis and treatment of restless legs syndrome
194. Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
195. Exploring variation of coverage and access to dental care for adults in 11 European countries: a vignette approach.
196. Collagen VI Regulates Motor Circuit Plasticity and Motor Performance by Cannabinoid Modulation.
197. A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
198. Epidemiology of restless legs syndrome: The current status
199. Genetics of restless legs syndrome
200. Paroxetine treatment improves motor symptoms in patients with multiple system atrophy
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