1978 …2018
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Fingerprint Fingerprint is based on mining the text of the experts' scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 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 2018

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

Wong, D. F., Blue, M. E., Brašić, J. R., Nandi, A., Valentine, H., Stansfield, K. H., Rousset, O., Bibat, G., Yablonski, M. E., Johnston, M. V., Gjedde, A. & Naidu, S. B. 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

Monogenic disorders that mimic the phenotype of Rett syndrome

Srivastava, S., Desai, S., Cohen, J., Smith-Hicks, C., Barañano, K., Fatemi, A. & Naidu, S. B. 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

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Cheng, H. , Dharmadhikari, A. V. , Varland, S. , Ma, N. , Domingo, D. , Kleyner, R. , Rope, A. F. , Yoon, M. , Stray-Pedersen, A. , Posey, J. E. , Crews, S. R. , Eldomery, M. K. , Akdemir, Z. C. , Lewis, A. M. , Sutton, V. R. , Rosenfeld, J. A. , Conboy, E. , Agre, K. , Xia, F. , Walkiewicz, M. & 30 others Longoni, M., High, F. A., van Slegtenhorst, M. A., Mancini, G. M. S., Finnila, C. R., van Haeringen, A., den Hollander, N., Ruivenkamp, C., Naidu, S., Mahida, S., Palmer, E. E., Murray, L., Lim, D., Jayakar, P., Parker, M. J., Giusto, S., Stracuzzi, E., Romano, C., Beighley, J. S., Bernier, R. A., Küry, S., Nizon, M., Corbett, M. A., Shaw, M., Gardner, A., Barnett, C., Armstrong, R., Kassahn, K. S., Van Dijck, A. & Vandeweyer, G. May 3 2018 In : American journal of human genetics. 102, 5, p. 985-994 10 p.

Research output: Contribution to journalArticle

N-Terminal Acetyltransferase A
Intellectual Disability
Genes
Acetylation
Translational Protein Modification

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. & Naidu, S. R. 2017 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Rett Syndrome
Genotype
Mutation
Electrocardiography
Sudden Death

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Lehman, A., Thouta, S., Mancini, G. M. S., Naidu, S., van Slegtenhorst, M., McWalter, K., Person, R., Mwenifumbo, J., Salvarinova, R., Guella, I., McKenzie, M. B., Datta, A., Connolly, M. B., Kalkhoran, S. M., Poburko, D., Friedman, J. M., Farrer, M. J., Demos, M., Desai, S. & Claydon, T. 2017 (Accepted/In press) In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

Exome
Potassium Channels
Brain Diseases
Missense Mutation
Intellectual Disability