30 results on '"Lockhart, Paul J."'
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2. The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment
3. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
4. Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
5. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
6. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
7. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants
8. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
9. Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data
10. DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons
11. Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair
12. Parkin Co-Regulated Gene is involved in aggresome formation and autophagy in response to proteasomal impairment
13. Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
14. Molecular analysis of the PArkin co-regulated gene and association with male infertility
15. A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome
16. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly
17. Parkin Co-regulated Gene (PACRG) is regulated by the ubiquitin–proteasomal system and is present in the pathological features of parkinsonian diseases
18. Oligomeric α-synuclein inhibits tubulin polymerization
19. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
20. Pathogenic Variants in GPC4 Cause Keipert Syndrome
21. DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans
22. Parkin Protects against the Toxicity Associated with Mutant α-Synuclein: Proteasome Dysfunction Selectively Affects Catecholaminergic Neurons
23. The Role of GMXCXXC Metal Binding Sites in the Copper-induced Redistribution of the Menkes Protein
24. Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology
25. Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
26. Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis
27. 374. Developing Bone Marrow Transplant and Lentiviral Vectors to Treat Friedreich Ataxia
28. 395. Developing Bone Marrow Transplant and Lentiviral Vectors for Friedreich Ataxia
29. Correction of the Copper Transport Defect of Menkes Patient Fibroblasts by Expression of the Menkes and Wilson ATPases
30. Eukaryotic Expression Vectors That Replicate to Low Copy Number in Bacteria: Transient Expression of the Menkes Protein
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