Naidu, Sakkubai

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., et al. (2016) · Nature Genetics

Cerebrovascular and genetic disordersGenomics and Rare Diseases

Cited by 148

Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy

Moser, H. W., Moser, A. B., Naidu, S., & Bergin, A. (1991) · Developmental Neuroscience

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 139

Adrenoleukodystrophy: correlating MR imaging with CT.

Kumar, A. J., Rosenbaum, A. E., Naidu, S., Wener, L., Citrin, C. M., Lindenberg, R., Kim, W. S., Zinreich, S. J., Molliver, M. E., & Mayberg, H. S. (1987) · Radiology

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 120

Update on leukodystrophies: A historical perspective and adapted definition

Kevelam, S., Steenweg, M., Srivastava, S., Helman, G., Naidu, S., Schiffmann, R., Blaser, S., Vanderver, A., Wolf, N., & van der Knaap, M. (2016) · Neuropediatrics

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 112

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Daoud, H., Tétreault, M., Gibson, W., Guerrero, K., Cohen, A., Gburek-Augustat, J., Synofzik, M., Brais, B., Stevens, C. A., Sanchez-Carpintero, R., et al. (2013) · Journal of Medical Genetics

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 106

Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated

Jangouk, P., Zackowski, K. M., Naidu, S., & Raymond, G. V. (2012) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 63

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

Wang, Y., Busin, R., Reeves, C., Bezman, L., Raymond, G., Toomer, C. J., Watkins, P. A., Snowden, A., Moser, A., Naidu, S., et al. (2011) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 58

Childhood Adrenoleukodystrophy: Failure of Intensive Immunosuppression to Arrest Neurologic Progression

Naidu, S. (1988) · Archives of Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 55

PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., et al. (2021) · Neurology Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 53

Assessment of Adrenal Function in Women Heterozygous for Adrenoleukodystrophy1

El-Deiry, S. S., Naidu, S., Blevins, L. S., & Ladenson, P. W. (1997) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersMetabolism and Genetic Disorders

Cited by 53

Increased very long chain fatty acids in patients on a ketogenic diet: A cause of diagnostic confusion

Theda, C., Woody, R. C., Naidu, S., Moser, A. B., & Moser, H. W. (1993) · The Journal of Pediatrics

Metabolism and Genetic DisordersDiet and metabolism studies

Cited by 44

Quantitative 1 H MR spectroscopic imaging in early Rett syndrome

Horská, A., Naidu, S., Herskovits, E. H., Wang, P. Y., Kaufmann, W. E., & Barker, P. B. (2000) · Neurology

Genetics and Neurodevelopmental DisordersAdvanced MRI Techniques and Applications

Cited by 38

Evaluation of QTc in Rett syndrome: correlation with age, severity, and genotype

Crosson, J., Srivastava, S., Bibat, G. M., Gupta, S., Kantipuly, A., Smith‐Hicks, C., Myers, S. M., Sanyal, A., Yenokyan, G., Brenner, J., et al. (2017) · American Journal of Medical Genetics Part A

Genetics and Neurodevelopmental DisordersCardiac electrophysiology and arrhythmias

Cited by 31

Cognitive impairment in adult-onset adrenoleukodystrophy

Edwin, D., Speedie, L., Naidu, S., & Moser, H. (1990) · Molecular and Chemical Neuropathology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 20

Excellent results with clorazepate in recalcitrant childhood epilepsies

Naidu, S., Gruener, G., & Brazis, P. (1986) · Pediatric Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 6