All Stories

  1. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

    Article • American Journal of Medical Genetics Part A, August 2018, Wiley

    Sanjay Prabhu, Sampath Rangasamy

  2. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype

    Article • American Journal of Medical Genetics Part A, July 2018, Wiley

    Sampath Rangasamy

  3. Neonatal epileptic encephalopathy misdiagnosed as atypical Rett syndrome

    Article • Seminars in Pediatric Neurology, August 2017, Elsevier

    Sampath Rangasamy

  4. Phenotypic Variability and mTOR Pathway Gene Aberrations in Familial Tuberous Sclerosis

    Article • Journal of Pediatric Neurology, May 2017, Thieme Publishing Group

    Sampath Rangasamy

  5. Association of increased levels of MCP-1 and cathepsin-D in young onset type 2 diabetes patients (T2DM-Y) with severity of diabetic retinopathy

    Article • Journal of Diabetes and its Complications, May 2017, Elsevier

    Sampath Rangasamy

  6. TBC1D24 associated with autosomal dominant tonic-clonic and myoclonic epilepsy

    Article • F1000Research, April 2017, Faculty of 1000, Ltd.

    Sampath Rangasamy, Dr Philippe M Campeau, marcus naymik, Erika Banuelos

  7. A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus

    Article • American Journal of Medical Genetics Part A, January 2017, Wiley

    Sampath Rangasamy

  8. Cellular and Animal Models of Neurologic Disease

    Article • January 2017, Elsevier

    Sampath Rangasamy

  9. Dystonia in ATP2B3 -associated X-linked spinocerebellar ataxia

    Article • Movement Disorders, September 2016, Wiley

    Sampath Rangasamy

  10. Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model

    Article • F1000Research, September 2016, Faculty of 1000, Ltd.

    Sampath Rangasamy, Brittany Gerald

  11. A de novo missense mutation inZMYND11is associated with global developmental delay, seizures, and hypotonia

    Article • Molecular Case Studies, July 2016, Cold Spring Harbor Laboratory Press

    Sampath Rangasamy

  12. Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities

    Article • F1000Research, September 2015, Faculty of 1000, Ltd.

    Sampath Rangasamy

  13. Diabetic Macular Edema: Pathophysiology and Novel Therapeutic Targets

    Article • Ophthalmology, July 2015, Elsevier

    Sampath Rangasamy

  14. A De Novo Mutation inTEAD1Causes Non–X-Linked Aicardi Syndrome

    Article • Investigative Ophthalmology & Visual Science, June 2015, Association for Research in Vision and Ophthalmology (ARVO)

    Sampath Rangasamy

  15. Incontinentia pigmenti (Bloch–Sulzberger syndrome)

    Article • January 2015, Elsevier

    Sampath Rangasamy

  16. Chemokine Mediated Monocyte Trafficking into the Retina: Role of Inflammation in Alteration of the Blood-Retinal Barrier in Diabetic Retinopathy

    Article • PLoS ONE, October 2014, PLOS

    Sampath Rangasamy

  17. New treatments for diabetic retinopathy

    Article • Diabetes Obesity and Metabolism, October 2014, Wiley

    Sampath Rangasamy

  18. Epigenetics, Autism Spectrum, and Neurodevelopmental Disorders

    Article • Neurotherapeutics, October 2013, Springer Science + Business Media

    Sampath Rangasamy

  19. The role of monocyte subsets in myocutaneous revascularization

    Article • Journal of Surgical Research, August 2013, Elsevier

    Sampath Rangasamy

  20. Diabetic retinopathy and inflammation: Novel therapeutic targets

    Article • Middle East African Journal of Ophthalmology, January 2012, Medknow

    Sampath Rangasamy

  21. Molecular Intricacies and the Role of ER Stress in Diabetes

    Article • Experimental Diabetes Research, January 2012, Hindawi Publishing Corporation

    Sampath Rangasamy

  22. Proteases in Diabetic Retinopathy

    Article • December 2011, Springer Science + Business Media

    Sampath Rangasamy

  23. Pericyte-Derived Sphinogosine 1-Phosphate Induces the Expression of Adhesion Proteins and Modulates the Retinal Endothelial Cell Barrier

    Article • Arteriosclerosis Thrombosis and Vascular Biology, September 2011, Wolters Kluwer Health

    Sampath Rangasamy

  24. A Potential Role for Angiopoietin 2 in the Regulation of the Blood–Retinal Barrier in Diabetic Retinopathy

    Article • Investigative Ophthalmology & Visual Science, May 2011, Association for Research in Vision and Ophthalmology (ARVO)

    Sampath Rangasamy

  25. Oxidative stress is independently associated with non-alcoholic fatty liver disease (NAFLD) in subjects with and without type 2 diabetes

    Article • Clinical Biochemistry, July 2010, Elsevier

    Sampath Rangasamy

  26. Association of Leukocyte Count With Varying Degrees of Glucose Intolerance in Asian Indians: The Chennai Urban Rural Epidemiology Study (CURES-26)

    Article • Metabolic Syndrome and Related Disorders, June 2009, Mary Ann Liebert Inc

    Sampath Rangasamy

  27. Advanced glycation index and its association with severity of diabetic retinopathy in type 2 diabetic subjects

    Article • Journal of Diabetes and its Complications, July 2008, Elsevier

    Sampath Rangasamy

  28. A Common Nonsynonymous Single Nucleotide Polymorphism in the SLC30A8 Gene Determines ZnT8 Autoantibody Specificity in Type 1 Diabetes

    Article • Diabetes, June 2008, American Diabetes Association

    Sampath Rangasamy

  29. Glutamine fructose-6-phosphate amidotransferase (GFAT) gene expression and activity in patients with type 2 diabetes: Inter-relationships with hyperglycaemia and oxidative stress

    Article • Clinical Biochemistry, September 2007, Elsevier

    Sampath Rangasamy

  30. Association of hypoglutathionemia with reduced Na+/K+ ATPase activity in type 2 diabetes and microangiopathy

    Article • Molecular and Cellular Biochemistry, January 2006, Springer Science + Business Media

    Sampath Rangasamy

  31. Increased glutathionylated hemoglobin (HbSSG) in type 2 diabetes subjects with microangiopathy

    Article • Clinical Biochemistry, October 2005, Elsevier

    Sampath Rangasamy

  32. A novel advanced glycation index and its association with diabetes and microangiopathy

    Article • Metabolism, August 2005, Elsevier

    Sampath Rangasamy

  33. Is insulin signaling molecules misguided in diabetes for ubiquitin–proteasome mediated degradation?

    Article • Molecular and Cellular Biochemistry, July 2005, Springer Science + Business Media

    Sampath Rangasamy

  34. Curcumin-induced inhibition of cellular reactive oxygen species generation: Novel therapeutic implications

    Article • Journal of Biosciences, December 2003, Springer Science + Business Media

    Sampath Rangasamy