21 results on '"Lockhart, Paul J."'
Search Results
2. Basal ganglia dysplasia and mTORopathy : A potential cause of postoperative seizures in focal cortical dysplasia
3. Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
4. Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations
5. Clinical seizure manifestations in the absence of synaptic connections
6. Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia
7. Clinical and Neuropathological Features Associated With Loss of RAB39B
8. Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
9. The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease
10. Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14
11. A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9
12. Rasmussen encephalitis tissue transfer program
13. Compound heterozygousFXNmutations and clinical outcome in friedreich ataxia
14. Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulatorNPRL3
15. Familial cortical dysplasia type IIA caused by a germline mutation inDEPDC 5
16. HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia
17. Genotype-phenotype correlates in Taiwanese patients with early-onset recessive parkinsonism
18. Identification of a Novel Gene Linked to Parkin via a Bidirectional Promoter
19. Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism
20. Profile of families with parkinsonism‐predominant spinocerebellar ataxia type 2 (SCA2)
21. It's a double knock‐out! The quaking mouse is a spontaneous deletion of parkin and parkin co‐regulated gene (PACRG)
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