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
Brain Medicine & Life Sciences
Leukoencephalopathies 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

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., 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

Natural History of Vanishing White Matter

Hamilton, E. M. C., van der Lei, H. D. W., Vermeulen, G., Gerver, J. A. M., Lourenço, C. M., Naidu, S., Mierzewska, H., Gemke, R. J. B. J., de Vet, H. C. W., Uitdehaag, B. M. J., Lissenberg-Witte, B. I., Research Group, V. W. M. & van der Knaap, M. S., Aug 1 2018, In : Annals of neurology. 84, 2, p. 274-288 15 p.

Research output: Contribution to journalArticle

Natural History
Age of Onset
Leukoencephalopathies
Absence Epilepsy
Genetic Association Studies

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. & 52 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., Kleefstra, T., Schieving, J., Jongmans, M. J., de Vries, B. B. A., Pfundt, R., Kerr, B., Rojas, S. K., Boycott, K. M., Person, R., Willaert, R., Eichler, E. E., Kooy, R. F., Yang, Y., Wu, J. C., Lupski, J. R., Arnesen, T., Cooper, G. M., Chung, W. K., Gecz, J., Stessman, H. A. F., Meng, L. & Lyon, G. J., 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