39 results on '"Bennett, Craig L."'
Search Results
2. Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4
3. Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity
4. Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients
5. Revisiting Glutamate Excitotoxicity in Amyotrophic Lateral Sclerosis and Age-Related Neurodegeneration.
6. Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly
7. De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy
8. Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration
9. Clonally expanded CD8 T cells characterize Amyotrophic Lateral Sclerosis 4
10. SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease
11. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with joubert syndrome
12. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
13. Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease
14. Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5
15. Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients
16. New gene for CMT
17. An Xp; Yq Translocation Causing a Novel Contiguous Gene Syndrome in Brothers with Generalized Epilepsy, Ichthyosis, and Attention Deficits
18. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and the scurfy mutant mouse
19. X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3
20. Spectrum of phenotypic findings in individuals with Joubert syndrome and clinical correlation with identified mutations in the NPHP1,AHI1, and RPGRIP1L genes
21. Protein Interaction Analysis of Senataxin and the ALS4 L389S Mutant Yields Insights into Senataxin Post-Translational Modification and Uncovers Mutant-Specific Binding with a Brain Cytoplasmic RNA-Encoded Peptide
22. Mitochondrial Dysfunction in NnaD Mutant Flies and Purkinje Cell Degeneration Mice Reveals a Role for Nna Proteins in Neuronal Bioenergetics
23. Litaf/Simple protein is increased in intestinal tissues from patients with CD and UC, but is unlikely to function as a transcription factor
24. SIMPLE interacts with NEDD4 and TSG101: Evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease
25. SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
26. Joubert syndrome: A haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene
27. Search for genes involved in Joubert syndrome: Evidence that one or more major loci are yet to be identified and exclusion of candidate genesEN1,EN2,FGF8, andBARHL1
28. IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena
29. Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies
30. FREQUENCIES OF VARIANTS OF CANDIDATE GENES IN DIFFERENT AGE GROUPS OF HYPERTENSIVES
31. A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome.
32. Joubert syndrome: A haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (<TOGGLE>ZIC1</TOGGLE>) gene
33. Search for genes involved in Joubert syndrome: Evidence that one or more major loci are yet to be identified and exclusion of candidate genes <TOGGLE>EN1</TOGGLE>, <TOGGLE>EN2</TOGGLE>, <TOGGLE>FGF8</TOGGLE>, and <TOGGLE>BARHL1</TOGGLE>
34. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
35. Letter To The Editor New gene for CMT.
36. Unwinding the role of senataxin in neurodegeneration.
37. Microtubule defects & Neurodegeneration.
38. Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.
39. Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.
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