197 results on '"Strongosky, Audrey"'
Search Results
2. Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease
3. Expanding the Genotype-phenotype Correlations in KIF5A-related Disorder: A Study on a Large Multigenerational Kindred (S35.005)
4. Crohn’s and Parkinson’s Disease-Associated LRRK2 Mutations Alter Type II Interferon Responses in Human CD14+ Blood Monocytes Ex Vivo
5. Comparison of clinical features among Parkinson's disease subtypes: A large retrospective study in a single center
6. Perry syndrome – the genetic, clinical, and pathological characteristics of the disease (P8-11.001)
7. Cancer in Parkinson’s disease
8. Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome
9. Neuropsychological profile of CSF1R-related leukoencephalopathy.
10. Three sib-pairs of autopsy-confirmed progressive supranuclear palsy
11. A novel CSF1R variant in a South Dakota family with CSF1R-related leukoencephalopathy
12. A familial form of parkinsonism, dementia, and motor neuron disease: A longitudinal study
13. Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis
14. Three families with Perry syndrome from distinct parts of the world
15. Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome
16. A novel tau mutation, p.K317N, causes globular glial tauopathy
17. Screening of GBA Mutations in Nigerian Patients with Parkinson's Disease
18. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia
19. In vivo detection of neuropathologic changes in presymptomatic MAPT mutation carriers: A PET and MRI study
20. Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review
21. Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1
22. Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia
23. Early-Onset Parkinson Disease Screening in Patients From Nigeria
24. Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation)
25. The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval
26. Anatomy of Disturbed Sleep in Pallido-Ponto-Nigral Degeneration
27. Spinocerebellar ataxia type 6 family with phenotypic overlap with Multiple System Atrophy
28. Brainstem atrophy on routine MR study in pallidopontonigral degeneration
29. Absence of Rapid Eye Movement Sleep Behavior Disorder in 11 Members of the Pallidopontonigral Degeneration Kindred
30. PET in LRRK2 mutations: comparison to sporadic Parkinsonʼs disease and evidence for presymptomatic compensation
31. Analysis of a Large Progressive Supranuclear Palsy Cohort Reporting to a Single Clinical Center (P3.8-024)
32. TRIO gene segregation in a family with cerebellar ataxia
33. Genetic risk variants for Parkinson’s disease (PD) and cognitive impairment in four clinical PD subtypes (S3.004)
34. TRIO Gene Segregation in a Family with Cerebellar Ataxia (P1.063)
35. Characterization of variants in genes associated with Parkinson’s disease and parkinsonism in the African American population using exome sequencing (P2.079)
36. Clinical presentation of a patient with SLC20A2 and THAP1 deletions: Differential diagnosis of oromandibular dystonia
37. Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies
38. Comparison of Clinical Features Among Parkinson Disease Subtypes (P6.014)
39. Occurrence of Crohn's disease with Parkinson’s disease
40. Spinocerebellar ataxia 15: A phenotypic review and expansion
41. Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction
42. RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies
43. Investigating the role of FUS exonic variants in Essential Tremor
44. Cancer in Parkinsons Disease in a Collection of the Mayo Clinic (P6.371)
45. Patient with Hydrocephalus and SCA15 (ITPR1) Variant (P6.397)
46. Mayo Clinic Florida Morris K. Udall Center of Excellence for Parkinson's Research
47. A clinicoradiologic study of hypertrophic olivary degeneration
48. Mitochondrial targeting sequence variants of theCHCHD2gene are a risk for Lewy body disorders
49. Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells
50. TRIOgene segregation in a family with cerebellar ataxia
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.