290 results on '"Smeets, Hubert J."'
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2. Hypoxic oligodendrocyte precursor cell-derived VEGFA is associated with blood–brain barrier impairment
3. Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight
4. Spinning Disk Confocal Microscopy for Optimized and Quantified Live Imaging of 3D Mitochondrial Network
5. Lead-exposure associated miRNAs in humans and Alzheimer’s disease as potential biomarkers of the disease and disease processes
6. Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency
7. Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.
8. Correction to: Non-extensitivity and criticality of atomic hydropathicity around a voltage-gated sodium channel’s pore: a modeling study
9. Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup
10. Wnt7a Decreases Brain Endothelial Barrier Function Via β-Catenin Activation
11. Non-extensitivity and criticality of atomic hydropathicity around a voltage-gated sodium channel’s pore: a modeling study
12. Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study
13. Hydropathicity-based prediction of pain-causing NaV1.7 variants
14. Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations
15. Selecting the Right Embryo in Mitochondrial Disorders
16. Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease
17. Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy
18. Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.
19. Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy
20. Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices
21. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
22. De novo mtDNA point mutations are common and have a low recurrence risk
23. Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients
24. Lacosamide Inhibition of NaV1.7 Channels Depends on its Interaction With the Voltage Sensor Domain and the Channel Pore
25. Plasma GDF-15 concentration is not elevated in open-angle glaucoma
26. Additional file 1 of Hydropathicity-based prediction of pain-causing NaV1.7 variants
27. Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome
28. Clinical expression of Leber Heredity Optic Neuropathy is affected by the mitochondrial DNA-haplogroup background
29. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients
30. Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success
31. Neurodegenerative and functional signatures of the cerebellar cortex inm.3243A >G patients.
32. Lacosamide Inhibition of NaV1.7 Channels Depends on its Interaction With the Voltage Sensor Domain and the Channel Pore.
33. MLL2 mutation spectrum in 45 patients with Kabuki syndrome
34. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
35. Cumulative hydropathic topology of a voltage‐gated sodium channel at atomic resolution
36. Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos
37. Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy
38. Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
39. The Mutational Spectrum of Holoprosencephaly-Associated Changes within the SHH Gene in Humans Predicts Loss-of-Function Through Either Key Structural Alterations of the Ligand or Its Altered Synthesis
40. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31
41. A MELAS-Associated ND1 Mutation Causing Leber Hereditary Optic Neuropathy and Spastic Dystonia
42. A Functional Polymorphism of the μ-Opioid Receptor Gene (OPRM1) Influences Cue-Induced Craving for Alcohol in Male Heavy Drinkers
43. Leigh syndrome caused by mutations inMTFMTis associated with a better prognosis
44. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
45. Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
46. Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.
47. Mutation-specific effects in germline transmission of pathogenic mtDNA variants
48. Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect
49. Pathogenic SLIRPvariants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency
50. Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype
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