172 results on '"Lynch, David S"'
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2. Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11
3. A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
4. The genetics of inherited disorders of white matter and related neurodegenerative diseases
5. Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.
6. CSF1R-Related Disorder: Prevalence of CSF1R Variants and Their Clinical Significance in the UK Population.
7. An alternative therapeutic approach to haematopoetic stem cell transplantation in early cerebral adrenoleukodystrophy.
8. TTR associated leptomeningeal amyloidosis in a Sri Lankan patient
9. Expanding the phenotypic spectrum of CLCN2-related leukoencephalopathy and ataxia
10. Chapter 15 - Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
11. Chapter 28 - Adult-onset leukodystrophy
12. PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy
13. Monogenic small vessel diseases — rare but still important
14. Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
15. Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
16. Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations
17. Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing
18. Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
19. Leukoencephalopathy caused by a 17p13.3 microdeletion
20. Extreme Clinical Variability Among Carriers of Pathogenic Variant inSSBP1
21. Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development
22. Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series
23. Contributors
24. Pembrolizumab for the treatment of progressive multifocal leukoencephalopathy following anti‐CD19 CAR‐T therapy: a case report
25. Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia
26. GGC Repeat Expansion inNOTCH2NLCIs Rare in European Leukoencephalopathy
27. How to diagnose difficult white matter disorders
28. Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
29. Insurance issues and the construction industry: constructing the case for coverage.
30. Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy
31. GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy
32. Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
33. Stem cell transplant arrests decline in case of CSF1R leukoencephalopathy
34. Preface
35. Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
36. Polymyositis without Beneficial Response to Steroid Therapy:Should Miyoshi Myopathy be a Differential Diagnosis?
37. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
38. Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era
39. A novel complex neurological phenotype due to a homozygous mutation in FDX2
40. The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies
41. Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy
42. S02. Determination of the contribution of H63D/H63D genotype to iron overload, and validation of a dual hybridisation probe assay for detecting HFE genes
43. Brainstem phenotype of cathepsin A–related arteriopathy with strokes and leukoencephalopathy
44. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
45. Truncating mutations inSPASTpatients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
46. Letter re: Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy
47. Clinical and genetic characterization of leukoencephalopathies in adults
48. Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy
49. Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
50. Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
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