Pages that link to "Q72853964"

The following pages link to Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation (Q72853964):

Displaying 50 items.

• The TOR1A (DYT1) gene family and its role in early onset torsion dystonia (Q22011111) (← links)
• The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro (Q24300223) (← links)
• The dystonia-associated protein torsinA modulates synaptic vesicle recycling (Q24305325) (← links)
• The early onset dystonia protein torsinA interacts with kinesin light chain 1 (Q24309349) (← links)
• Torsins: not your typical AAA+ ATPases (Q28087663) (← links)
• Classification and genetics of dystonia (Q28185777) (← links)
• Childhood dystonia (Q28208536) (← links)
• The diagnosis of dystonia (Q29041708) (← links)
• TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration (Q30581663) (← links)
• Abnormal structure-function relationships in hereditary dystonia (Q33402008) (← links)
• Association of a missense change in the D2 dopamine receptor with myoclonus dystonia (Q33860047) (← links)
• GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany (Q33870034) (← links)
• Dystonia: recent advances (Q33930959) (← links)
• TorsinA and the TorsinA-Interacting Protein Printor Have No Impact on Endoplasmic Reticulum Stress or Protein Trafficking in Yeast (Q33983398) (← links)
• Inherited and de novo mutations in sporadic cases of DYT1-dystonia (Q34125299) (← links)
• Cervical dystonia in monozygotic twins: case report and review of the literature (Q34324425) (← links)
• Dystonia and its disorders (Q34353555) (← links)
• Search for a founder mutation in idiopathic focal dystonia from Northern Germany (Q34388255) (← links)
• The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein (Q34438326) (← links)
• Epidemiology of primary blepharospasm. (Q34522406) (← links)
• Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study (Q34703465) (← links)
• Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population (Q34722031) (← links)
• Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families (Q34743666) (← links)
• Dystonia and dyskinesia (Q34744720) (← links)
• Genetic and clinical features of primary torsion dystonia (Q34777884) (← links)
• Inherited movement disorders. (Q34997873) (← links)
• Inherited isolated dystonia: clinical genetics and gene function. (Q35340179) (← links)
• The MS Symptom and Impact Diary (MSSID): psychometric evaluation of a new instrument to measure the day to day impact of multiple sclerosis (Q35480548) (← links)
• Microstructural white matter changes in primary torsion dystonia (Q35684473) (← links)
• Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia (Q35788565) (← links)
• Ashkenazi Jewish genetic disorders (Q35934030) (← links)
• Invertebrate models of dystonia (Q36634138) (← links)
• The Frequency of DYT1 (GAG Deletion) Mutation in Primary Dystonia Patients from Iran (Q36839427) (← links)
• Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family (Q36879723) (← links)
• Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study (Q37017203) (← links)
• Genotype-phenotype interactions in primary dystonias revealed by differential changes in brain structure (Q37341516) (← links)
• Myoclonus-dystonia syndrome (Q37865678) (← links)
• Milestones in dystonia (Q37882600) (← links)
• Botulinum toxin for the treatment of spasmodic dysphonia (Q44874436) (← links)
• Ethnic variation in the clinical expression of idiopathic torsion dystonia (Q46441936) (← links)
• TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion (Q48378126) (← links)
• Autosomal dominant torsion dystonia with onset in infancy (Q56771168) (← links)
• Primary torsion dystonia due to the TOR1A GAG deletion in an Irish family (Q63952717) (← links)
• The DYT1 GAG deletion is infrequent in sporadic and familial writer' s cramp (Q73264236) (← links)
• Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration (Q74309038) (← links)
• Mutational and biochemical analysis of dopamine in dystonia: evidence for decreased dopamine D2 receptor inhibition (Q74552053) (← links)
• The dystonias (Q74582397) (← links)
• Phenotypic differences in Dyt1 between ethnic groups (Q84203507) (← links)
• Diverse Mechanisms Lead to Common Dysfunction of Striatal Cholinergic Interneurons in Distinct Genetic Mouse Models of Dystonia (Q92000933) (← links)
• Update on pediatric dystonias: etiology, epidemiology, and management (Q92489425) (← links)