1978 …2019
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Fingerprint Dive into the research topics where Sakkubai Naidu is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Rett Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Adrenoleukodystrophy Medicine & Life Sciences
Leukoencephalopathies Medicine & Life Sciences
Brain Medicine & Life Sciences
Methyl-CpG-Binding Protein 2 Medicine & Life Sciences
Alexander Disease Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 1978 2019

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Undiagnosed Diseases Network, Jan 3 2019, In : American Journal of Human Genetics. 104, 1, p. 164-178 15 p.

Research output: Contribution to journalArticle

Intellectual Disability
Hypertrichosis
Genes
Exome
Eyebrows

Expansion of the clinical spectrum associated with AARS2-related disorders

Srivastava, S., Butala, A., Mahida, S., Richter, J., Mu, W., Poretti, A., Vernon, H. J., VanGerpen, J., Atwal, P. S., Middlebrooks, E. H., Zee, D. S. & Naidu, S., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Leukoencephalopathies
Tremor
Ataxia
Psychiatry
Alanine-tRNA Ligase

Are dopamine receptor and transporter changes in Rett syndrome reflected in Mecp2-deficient mice?

Wong, D. F., Blue, M. E., Brasic, J. R., Nandi, A., Valentine, H., Stansfield, K. H., Rousset, O., Bibat, G. M., Yablonski, M. E., Johnston, M. V., Gjedde, A. & Naidu, S., Sep 1 2018, In : Experimental Neurology. 307, p. 74-81 8 p.

Research output: Contribution to journalArticle

Rett Syndrome
Dopamine Plasma Membrane Transport Proteins
Dopamine Receptors
Positron-Emission Tomography
Autoradiography

Clinical and functional characterization of the recurrent TUBA1A p.(ARG2HIS) mutation

Gardner, J. F., Cushion, T. D., Niotakis, G., Olson, H. E., Grant, P. E., Scott, R. H., Stoodley, N., Cohen, J. S., Naidu, S., Attie-Bitach, T., Bonnières, M., Boutaud, L., Encha-Razavi, F., Palmer-Smith, S. M., Mugalaasi, H., Mullins, J. G. L., Pilz, D. T. & Fry, A. E., Aug 7 2018, In : Brain Sciences. 8, 8, 145.

Research output: Contribution to journalArticle

Tubulin
Mutation
Microtubules
Brain
Microcephaly

Monogenic disorders that mimic the phenotype of Rett syndrome

Srivastava, S., Desai, S., Cohen, J., Smith-Hicks, C. L., Baranano, K., Fatemi, A. & Naidu, S., Jan 10 2018, (Accepted/In press) In : Neurogenetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

Rett Syndrome
Methyl-CpG-Binding Protein 2
Phenotype
Exome
Hand