50 results on '"Garbern, James Y."'
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2. A Mutation Affecting the Sodium/Proton Exchanger, 'SLC9A6,' Causes Mental Retardation with Tau Deposition
3. Neuroradiologic correlates of clinical disability and progression in the X-Linked leukodystrophy Pelizaeus–Merzbacher disease
4. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity
5. Deficits in stepping response time are associated with impairments in balance and mobility in people with Huntington disease
6. Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy
7. PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing
8. Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1
9. Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations
10. Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination
11. Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia
12. Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy
13. Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher-Like Disease 1, and Related Hypomyelinating Disorders
14. Contributors
15. Body Fluid and Tissue Analysis
16. Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia
17. Maintaince of the relative proportion of oligodendrocytes to axons even in the absence of BAX and BAK
18. Pelizaeus-Merzbacher Disease
19. Splice-Site Contribution in Alternative Splicing of PLP1 and DM20: Molecular Studies in Oligodendrocytes
20. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease
21. Phenotypic clustering in MPZ mutations
22. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation
23. Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations
24. Hereditary motor and sensory neuropathies: a biological perspective
25. A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
26. Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication
27. Auditory testing profiles of Pelizaeus-Merzbacher disease
28. Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations
29. Persistent CNS dysfunction in a boy with CMT1X
30. Extensive Aspartoacylase Expression in the Rat Central Nervous System
31. Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot inATL1Blurs Autosomal Dominant Inheritance of Spastic Paraplegia
32. Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy
33. Extensive aspartoacylase expression in the rat central nervous system
34. Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease
35. Plexiform-like neurofibromas develop in the mouse by intraneural xenograft of an NF1 tumor-derived Schwann cell line
36. Aspartoacylase is a regulated nuclear‐cytoplasmic enzyme
37. Pelizaeus–Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system
38. Splice-site contribution in alternative splicing ofPLP1 andDM20: molecular studies in oligodendrocytes
39. Transient central nervous system white matter abnormality in X‐linked Charcot‐Marie‐Tooth disease
40. A prospective, open-label treatment trial to compare the effect of IFNβ-1a (Avonex®), IFNβ-1b (Betaseron®), and glatiramer acetate (Copaxone®) on the relapse rate in relapsing-remitting multiple sclerosis: results after 18 months of therapy
41. Effect of monthly intravenous cyclophosphamide in rapidly deteriorating multiple sclerosis patients resistant to conventional therapy
42. Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin
43. Chapter 37 - Pelizaeus-Merzbacher Disease
44. Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice
45. Current Concepts in Spina Bifida and Hydrocephalus (Clinics in Developmental Medicine No. 122)
46. Purification and Characterization of Clathrin from Bovine Brain.
47. A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
48. Neuronal cell injury precedes brain atrophy in multiple sclerosis
49. Chapter 25 - Body Fluid and Tissue Analysis
50. Contributors
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