244 results on '"Danzi, Matt"'
Search Results
2. A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
3. Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
4. RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci
5. The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study
6. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
7. Deep structured learning for variant prioritization in Mendelian diseases
8. The circadian clock time tunes axonal regeneration
9. The gut metabolite indole-3 propionate promotes nerve regeneration and repair
10. Comparative RNAseq analysis for the study of motoneuron diseases in multi-omics approaches
11. GAA-FGF14 Disease: Defining Its Frequency, Molecular Basis, and 4-aminopyridine Response in a Large Cohort of Patients with Downbeat Nystagmus (P6-3.013)
12. Childhood Onset Amyotrophic Lateral Sclerosis Associated with SPTLC2 Gain-of-Function Pathogenic Variants: Clinical, Genetic, and Biochemical Insights (P4-8.001)
13. Mechanisms of Neurodegeneration and Mini-gene Therapeutic Approach for Charcot-Marie-Tooth Disease Type 4B3 (S37.007)
14. Pre-clinical Antisense Oligonucleotide Treatment of CMT2E in a Human Induced Pluripotent Stem Cell (iPSC)-derived Motor Neuron Model (S5.008)
15. PP4‐dependent HDAC3 dephosphorylation discriminates between axonal regeneration and regenerative failure
16. REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
17. Phenotypic Screening Following Transcriptomic Deconvolution to Identify Transcription Factors Mediating Axon Growth Induced by a Kinase Inhibitor
18. Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.
19. The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations
20. Characterization and visualization of tandem repeats at genome scale
21. A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A.
22. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
23. Computational Identification of Kinases That Control Axon Growth in Mouse
24. A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia
25. Recurrentde-novo gain-of-functionmutation inSPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
26. Epigenomic signatures underpin the axonal regenerative ability of dorsal root ganglia sensory neurons
27. Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
28. Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.
29. Frequency of GAA-FGF14Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
30. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia
31. The circadian clock is a pacemaker of the axonal regenerative ability
32. IntronicFGF14GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response
33. Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”
34. Enriched conditioning expands the regenerative ability of sensory neurons after spinal cord injury via neuronal intrinsic redox signaling
35. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
36. A common flanking variant is associated with enhanced meiotic stability of theFGF14-SCA27B locus
37. Resolving the unsolved: Comprehensive assessment of tandem repeats at scale
38. Recurrent de-novo gain-of-functionmutation in SPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
39. Large scale in silico characterization of repeat expansion variation in human genomes
40. Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
41. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
42. Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
43. Reactive oxygen species regulate axonal regeneration through the release of exosomal NADPH oxidase 2 complexes into injured axons
44. RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci
45. Optimized testing strategy for the diagnosis of GAA-FGF14ataxia
46. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
47. Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
48. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
49. A network biology approach to unraveling inherited axonopathies
50. Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.