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Research Output 1978 2018

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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

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
2017

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

Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes

De Kovel, C. G. F. , Syrbe, S. , Brilstra, E. H. , Verbeek, N. , Kerr, B. , Dubbs, H. , Bayat, A. , Desai, S. , Naidu, S. , Srivastava, S. , Cagaylan, H. , Yis, U. , Saunders, C. , Rook, M. , Plugge, S. , Muhle, H. , Afawi, Z. , Klein, K. M. , Jayaraman, V. , Rajagopalan, R. & 15 others Goldberg, E., Marsh, E., Kessler, S., Bergqvist, C., Conlin, L. K., Krok, B. L., Thiffault, I., Pendziwiat, M., Helbig, I., Polster, T., Borggraefe, I., Lemke, J. R., Van Den Boogaardt, M. J., Møller, R. S. & Koeleman, B. P. C., Oct 1 2017, In : JAMA Neurology. 74, 10, p. 1228-1236 9 p.

Research output: Contribution to journalArticle

Randomized open-label trial of dextromethorphan in Rett syndrome

Smith-Hicks, C. L., Gupta, S., Ewen, J. B., Hong, M., Kratz, L., Kelley, R., Tierney, E., Vaurio, R., Bibat, G., Sanyal, A., Yenokyan, G., Brereton, N., Johnston, M. V. & Naidu, S., Oct 17 2017, In : Neurology. 89, 16, p. 1684-1690 7 p.

Research output: Contribution to journalArticle

Dextromethorphan
Rett Syndrome
Seizures
Checklist
Electroencephalography
2016

BRAT1 mutations present with a spectrum of clinical severity

Srivastava, S., Olson, H. E., Cohen, J. S., Gubbels, C. S., Lincoln, S., Davis, B. T., Shahmirzadi, L., Gupta, S., Picker, J., Yu, T. W., Miller, D. T., Soul, J. S., Poretti, A. & Naidu, S., 2016, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Mutation
Apraxias
Epilepsy
Microcephaly
Seizures

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

Webster, E., Cho, M. T., Alexander, N., Desai, S., Naidu, S., Bekheirnia, M. R., Lewis, A., Retterer, K., Juusola, J. & Chung, W. K., Nov 1 2016, In : Cold Spring Harbor molecular case studies. 2, 6, p. a001172

Research output: Contribution to journalArticle

Intracellular Signaling Peptides and Proteins
Exome
Developmental Disabilities
Frameshift Mutation
Muscle Hypotonia

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

Srivastava, S., Engels, H., Schanze, I., Cremer, K., Wieland, T., Menzel, M., Schubach, M., Biskup, S., Krei, M., Endele, S., Strom, T. M., Wieczorek, D., Zenker, M., Gupta, S., Cohen, J., Zink, A. M. & Naidu, S., Apr 1 2016, In : European Journal of Human Genetics. 24, 4, p. 556-561 6 p.

Research output: Contribution to journalArticle

Intellectual Disability
Exome
Haploinsufficiency
Microcephaly
myc Genes

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. , Bhaskar, S. S. , O'Sullivan, J. , Baerlocher, G. M. , Haubitz, M. , Aubert, G. , Barañano, K. W. , Barnicoat, A. J. , Battini, R. , Berger, A. , Blair, E. M. & 46 others Brunstrom-Hernandez, J. E., Buckard, J. A., Cassiman, D. M., Caumes, R., Cordelli, D. M., De Waele, L. M., Fay, A. J., Ferreira, P., Fletcher, N. A., Fryer, A. E., Goel, H., Hemingway, C. A., Henneke, M., Hughes, I., Jefferson, R. J., Kumar, R., Lagae, L., Landrieu, P. G., Lourenço, C. M., Malpas, T. J., Mehta, S. G., Metz, I., Naidu, S., Õunap, K., Panzer, A., Prabhakar, P., Quaghebeur, G., Schiffmann, R., Sherr, E. H., Sinnathuray, K. R., Soh, C., Stewart, H. S., Stone, J., Van Esch, H., Van Mol, C. E. G., Vanderver, A., Wakeling, E. L., Whitney, A., Pavitt, G. D., Griffiths-Jones, S., Rice, G. I., Revy, P., Van Der Knaap, M. S., Livingston, J. H., O'Keefe, R. T. & Crow, Y. J., Oct 1 2016, In : Nature Genetics. 48, 10, p. 1185-1192 8 p.

Research output: Contribution to journalArticle

Cerebral Small Vessel Diseases
Small Nucleolar RNA
Leukoencephalopathies
Ribosomes
Cysts

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

Kevelam, S. H., Steenweg, M. E., Srivastava, S., Helman, G., Naidu, S., Schiffmann, R., Blaser, S., Vanderver, A., Wolf, N. I. & van der Knaap, M. S., Jul 13 2016, (Accepted/In press) In : Neuropediatrics.

Research output: Contribution to journalArticle

Myelin Sheath
Exome
Housekeeping
Inborn Genetic Diseases
Genetic Linkage
2015

CSF and blood levels of GFAP in Alexander disease

Jany, P. L., Agosta, G. E., Benko, W. S., Eickhoff, J. C., Keller, S. R., Köehler, W., Koeller, D., Mar, S., Naidu, S., Ness, J. M., Pareyson, D., Renaud, D. L., Salsano, E., Schiffmann, R., Simon, J., Vanderver, A., Eichler, F., van der Knaap, M. S. & Messing, A., Jan 1 2015, In : eNeuro. 2, 5, e0080-15.2015

Research output: Contribution to journalArticle

Alexander Disease
Astrocytes
Intermediate Filament Proteins
Glial Fibrillary Acidic Protein
Body Fluids

Functional outcomes in Rett syndrome

Pidcock, F. S., Salorio, C., Bibat, G., Swain, J., Scheller, J., Shore, W. & Naidu, S. B., May 12 2015, (Accepted/In press) In : Brain and Development.

Research output: Contribution to journalArticle

Rett Syndrome
Mutation
Self Care
Upper Extremity
Methyl-CpG-Binding Protein 2

Heightened delta power during slow-wave- sleep in patients with rett syndrome associated with poor sleep efficiency

Ammanuel, S., Chan, W. C., Adler, D. A., Lakshamanan, B. M., Gupta, S. S., Ewen, J. B., Johnston, M. V., Marcus, C. L., Naidu, S. & Kadam, S. D., Oct 7 2015, In : PLoS One. 10, 10, e0138113

Research output: Contribution to journalArticle

Rett Syndrome
sleep
Sleep
Electroencephalography
Wave power

Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings

Vernon, H. J., Mcclellan, R., Batista, D. A. & Naidu, S., May 1 2015, In : American Journal of Medical Genetics, Part A. 167, 5, p. 1147-1151 5 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Siblings
Mutation
Exons
Phenylalanine-tRNA Ligase
2014

Abnormalities of the DNA methylation mark and its machinery: An emerging cause of neurologic dysfunction

Weissman, J., Naidu, S. & Bjornsson, H. T., Jul 1 2014, In : Seminars in Neurology. 34, 3, p. 249-257 9 p.

Research output: Contribution to journalArticle

DNA Methylation
Neurologic Manifestations
Epigenomics
Methyltransferases
Topoisomerase Inhibitors

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Wolf, N. I. , Vanderver, A. , Van Spaendonk, R. M. L. , Schiffmann, R. , Brais, B. , Bugiani, M. , Sistermans, E. , Catsman-Berrevoets, C. , Kros, J. M. , Pinto, P. S. , Pohl, D. , Tirupathi, S. , Strømme, P. , De Grauw, T. , Fribourg, S. , Demos, M. , Pizzino, A. , Naidu, S. , Guerrero, K. , Van Der Knaap, M. S. & 1 others Bernard, G., Nov 1 2014, In : Neurology. 83, 21, p. 1898-1905 8 p.

Research output: Contribution to journalArticle

Mutation
Myoclonic Cerebellar Dyssynergia
Tooth
Anodontia
Ventral Thalamic Nuclei

Clinical whole exome sequencing in child neurology practice

Srivastava, S., Cohen, J. S., Vernon, H., Barañano, K., McClellan, R., Jamal, L., Naidu, S. & Fatemi, A., Oct 1 2014, In : Annals of Neurology. 76, 4, p. 473-483 11 p.

Research output: Contribution to journalArticle

Exome
Neurology
Pediatrics
Inheritance Patterns
Family Planning Services

De novo KCNB1 mutations in epileptic encephalopathy

Torkamani, A., Bersell, K., Jorge, B. S., Bjork, R. L., Friedman, J. R., Bloss, C. S., Cohen, J., Gupta, S., Naidu, S., Vanoye, C. G., George, A. L. & Kearney, J. A., Oct 1 2014, In : Annals of Neurology. 76, 4, p. 529-540 12 p.

Research output: Contribution to journalArticle

Brain Diseases
Exome
Mutation
Missense Mutation
Voltage-Gated Potassium Channels

Hypomyelination with atrophy of the basal ganglia and cerebellum: Further delineation of the phenotype and genotype-phenotype correlation

Hamilton, E. M., Polder, E., Vanderver, A., Naidu, S., Schiffmann, R., Fisher, K., Raguž, A. B., Blumkin, L., Van Berkel, C. G. M., Waisfisz, Q., Simons, C., Taft, R. J., Abbink, T. E. M., Wolf, N. I. & Van Der Knaap, M. S., 2014, In : Brain. 137, 7, p. 1921-1930 10 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Basal Ganglia
Cerebellum
Atrophy
Phenotype
Basal Ganglia
Neuroimaging
Cerebellum
Atrophy
Phenotype

Twenty-four hour quantitative-EEG and in-vivo glutamate biosensor detects activity and circadian rhythm dependent biomarkers of pathogenesis in Mecp2 null mice

Johnston, M. V., Ammanuel, S., O'Driscoll, C., Wozniak, A., Naidu, S. & Kadam, S. D., Jun 27 2014, In : Frontiers in Systems Neuroscience. 8, JUNE, 118

Research output: Contribution to journalArticle

Biosensing Techniques
Circadian Rhythm
Methyl-CpG-Binding Protein 2
Glutamic Acid
Electroencephalography
2013

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., Goizet, C., Naidu, S., Vanderver, A. & Bernard, G., 2013, In : Journal of Medical Genetics. 50, 3, p. 194-197 4 p.

Research output: Contribution to journalArticle

Tooth Abnormalities
Hypogonadism
Mutation
Exons
Frameshift Mutation

Rett syndrome and epilepsy: An update for child neurologists

Dolce, A., Ben-Zeev, B., Naidu, S. & Kossoff, E. H., May 2013, In : Pediatric Neurology. 48, 5, p. 337-345 9 p.

Research output: Contribution to journalArticle

Rett Syndrome
Epilepsy
Seizures
Ketogenic Diet
Vagus Nerve Stimulation
2012

Adrenoleukodystrophy in female heterozygotes: Underrecognized and undertreated

Jangouk, P., Zackowski, K. M., Naidu, S. & Raymond, G. V., Feb 2012, In : Molecular Genetics and Metabolism. 105, 2, p. 180-185 6 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Neuroimaging
Heterozygote
Genes
Neurodegenerative diseases

Advances in the diagnosis of leukoencephalopathies

Naidu, S. & Lin, D. D. M., Jul 2012, In : Expert Opinion on Medical Diagnostics. 6, 4, p. 259-273 15 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Imaging techniques
Clinical laboratories
Magnetic resonance spectroscopy
Neuroimaging

Archetypal and new families with Alexander disease and novel mutations in GFAP

Messing, A., Li, R., Naidu, S., Taylor, J. P., Silverman, L., Flint, D., Van Der Knaap, M. S. & Brenner, M., Feb 2012, In : Archives of Neurology. 69, 2, p. 208-214 7 p.

Research output: Contribution to journalArticle

Alexander Disease
Mutation
Mosaicism
Siblings
Phenotype

Correlation of the vesicular acetylcholine transporter densities in the striata to the clinical abilities of women with rett syndrome

Brašić, J. R., Bibat, G., Kumar, A., Zhou, Y., Hilton, J., Yablonski, M. E., Dogan, A. S., Guevara, M. R., Stephane, M., Johnston, M., Wong, D. F. & Naidu, S., Jun 2012, In : Synapse. 66, 6, p. 471-482 12 p.

Research output: Contribution to journalArticle

Vesicular Acetylcholine Transport Proteins
Rett Syndrome
Activities of Daily Living
Binding Sites
Corpus Striatum

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Anderson, B. H. , Kasher, P. R. , Mayer, J. , Szynkiewicz, M. , Jenkinson, E. M. , Bhaskar, S. S. , Urquhart, J. E. , Daly, S. B. , Dickerson, J. E. , O'Sullivan, J. , Leibundgut, E. O. , Muter, J. , Abdel-Salem, G. M. H. , Babul-Hirji, R. , Baxter, P. , Berger, A. , Bonafé, L. , Brunstom-Hernandez, J. E. , Buckard, J. A. , Chitayat, D. & 44 others Chong, W. K., Cordelli, D. M., Ferreira, P., Fluss, J., Forrest, E. H., Franzoni, E., Garone, C., Hammans, S. R., Houge, G., Hughes, I., Jacquemont, S., Jeannet, P. Y., Jefferson, R. J., Kumar, R., Kutschke, G., Lundberg, S., Loureno, C. M., Mehta, R., Naidu, S., Nischal, K. K., Nunes, L., Ounap, K., Philippart, M., Prabhakar, P., Risen, S. R., Schiffmann, R., Soh, C., Stephenson, J. B. P., Stewart, H., Stone, J., Tolmie, J. L., Van Der Knaap, M. S., Vieira, J. P., Vilain, C. N., Wakeling, E. L., Wermenbol, V., Whitney, A., Lovell, S. C., Meyer, S., Livingston, J. H., Baerlocher, G. M., Black, G. C. M., Rice, G. I. & Yanick, J., Mar 2012, In : Nature Genetics. 44, 3, p. 338-342 5 p.

Research output: Contribution to journalArticle

Telomere Shortening
Telomere
Dyskeratosis Congenita
Maintenance
DNA Polymerase I

Social impairments in Rett syndrome: Characteristics and relationship with clinical severity

Kaufmann, W. E., Tierney, E., Rohde, C. A., Suarez-Pedraza, M. C., Clarke, M. A., Salorio, C. F., Bibat, G., Bukelis, I., Naram, D., Lanham, D. C. & Naidu, S., Mar 2012, In : Journal of Intellectual Disability Research. 56, 3, p. 233-247 15 p.

Research output: Contribution to journalArticle

Rett Syndrome
Psychological Adaptation
Interpersonal Relations
Mutation
Phenotype

Splice site, frameshift, and chimeric GFAP mutations in Alexander disease

Flint, D., Li, R., Webster, L. S., Naidu, S., Kolodny, E., Percy, A., van der Knaap, M., Powers, J. M., Mantovani, J. F., Ekstein, J., Goldman, J. E., Messing, A. & Brenner, M., Jul 2012, In : Human Mutation. 33, 7, p. 1141-1148 8 p.

Research output: Contribution to journalArticle

Alexander Disease
Glial Fibrillary Acidic Protein
Mutation
Intermediate Filaments
Intermediate Filament Proteins
2011

Clinical criteria for Rett syndrome

Naidu, S. & Johnston, M. V. May 2011 In : Nature Reviews Neurology. 7, 6, p. 312-314 3 p.

Research output: Contribution to journalArticle

Nerve Tissue Proteins
Cyclin-Dependent Kinase Inhibitor p15
Methyl-CpG-Binding Protein 2
Rett Syndrome
Forkhead Transcription Factors

Temporal and regional alterations in NMDA receptor expression in Mecp2-null mice

Blue, M. E., Kaufmann, W. E., Bressler, J., Eyring, C., O'driscoll, C., Naidu, S. & Johnston, M. V., Oct 2011, In : Anatomical Record. 294, 10, p. 1624-1634 11 p.

Research output: Contribution to journalArticle

aspartic acid
N-Methyl-D-Aspartate Receptors
receptors
mice
Rett Syndrome

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., Bibat, G., Hewson, S., Tam, K., Clarke, J. T. R., Charnas, L., Stetten, G., Karczeski, B., Cutting, G. & Steinberg, S., Sep 2011, In : Molecular Genetics and Metabolism. 104, 1-2, p. 160-166 7 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Mosaicism
Fatty Acids
Genes
Plasmas
2010

Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation

Jentarra, G. M., Olfers, S. L., Rice, S. G., Srivastava, N., Homanics, G. E., Blue, M., Naidu, S. & Narayanan, V., Feb 17 2010, In : BMC Neuroscience. 11, 19

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Rett Syndrome
Cell Count
Mutation
Intellectual Disability

Bone mass in rett syndrome: Association with clinical parameters and MECP2 mutations

Shapiro, J. R., Bibat, G., Hiremath, G., Blue, M. E., Hundalani, S., Yablonski, T., Kantipuly, A., Rohde, C., Johnston, M. & Naidu, S., Nov 2010, In : Pediatric Research. 68, 5, p. 446-451 6 p.

Research output: Contribution to journalArticle

Rett Syndrome
Bone Density
Bone and Bones
Mutation
Scoliosis

Effects of Sedation on Auditory Brainstem Response in Rett Syndrome

Pillion, J. P., Bibat, G. & Naidu, S. May 2010 In : Pediatric Neurology. 42, 5, p. 331-334 4 p.

Research output: Contribution to journalArticle

Rett Syndrome
Brain Stem Auditory Evoked Potentials
Mutation
Intellectual Disability
Genes

Ocular MECP2 Protein Expression in Patients With and Without Rett Syndrome

Jain, D., Singh, K., Chirumamilla, S., Bibat, G. M., Blue, M. E., Naidu, S. R. & Eberhart, C. G., Jul 2010, In : Pediatric Neurology. 43, 1, p. 35-40 6 p.

Research output: Contribution to journalArticle

Methyl-CpG-Binding Protein 2
Rett Syndrome
Gene Expression
Proteins
Genes

White matter impairment in rett syndrome: Diffusion tensor imaging study with clinical correlations

Mahmood, A., Bibat, G., Zhan, A. L., Izbudak, I., Farage, L., Horska, A., Mori, S. & Naidu, S., Feb 2010, In : American Journal of Neuroradiology. 31, 2, p. 295-299 5 p.

Research output: Contribution to journalArticle

Rett Syndrome
Diffusion Tensor Imaging
Carrier Proteins
Internal Capsule
X Chromosome Inactivation
2009

An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

Dotti, M. T., Buccoliero, R., Lee, A., Gorospe, J. R., Flint, D., Galluzzi, P., Bianchi, S., D'Eramo, C., Naidu, S., Federico, A. & Brenner, M., Apr 2009, In : Journal of Neurology. 256, 4, p. 679-682 4 p.

Research output: Contribution to journalArticle

DNA Mutational Analysis
Alexander Disease
Protein Multimerization
Glial Fibrillary Acidic Protein
Missense Mutation

Brain metabolism in rett syndrome: Age, clinical, and genotype correlations

Horská, A., Farage, L., Bibat, G., Nagae, L. M., Kaufmann, W. E., Barker, P. B. & Naidu, S., Jan 2009, In : Annals of Neurology. 65, 1, p. 90-97 8 p.

Research output: Contribution to journalArticle

Rett Syndrome
Genotype
Brain
Glutamine
Glutamic Acid

Two cases with progressive cystic leukoencephalopathy

Yapici, Z., Benbir, G., Saltik, S., He, L., Brown, G. K., Taylor, R. W., Dincer, A., Naidu, S. & Yalcinkaya, C., 2009, In : Neuropediatrics. 40, 1, p. 47-51 5 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Mitochondrial Diseases
Nervous System Diseases
Magnetic Resonance Spectroscopy
Magnetic Resonance Imaging
2008

Esophageal motility dysfunction in children with Rett Syndrome, gastroesophageal reflux, and dysphagia

Fortunato, J. E., Darbari, A., Cuffari, C., Bibat, G., Koch, K., Desbiens, J., Brereton, H. & Naidu, S., 2008, In : Journal of Applied Research. 8, 2, p. 84-94 11 p.

Research output: Contribution to journalArticle

Rett Syndrome
Deglutition Disorders
Gastroesophageal Reflux
Peristalsis
Fundoplication

Selective cerebral volume reduction in Rett syndrome: A multiple-approach MR imaging study

Carter, J. C., Lanham, D. C., Pham, D., Bibat, G., Naidu, S. & Kaufmann, W. E., Mar 2008, In : American Journal of Neuroradiology. 29, 3, p. 436-441 6 p.

Research output: Contribution to journalArticle

Rett Syndrome
Neuroanatomy
Occipital Lobe
Parietal Lobe
Brain
2007

Enhanced cell death in MeCP2 null cerebellar granule neurons exposed to excitotoxicity and hypoxia

Russell, J. C., Blue, M. E., Johnston, M. V., Naidu, S. & Hossain, M. A., Dec 12 2007, In : Neuroscience. 150, 3, p. 563-574 12 p.

Research output: Contribution to journalArticle

Methyl-CpG-Binding Protein 2
Cell Death
Neurons
Apoptosis Inducing Factor
Rett Syndrome
2006

Splice-site contribution in alternative splicing of PLP1 and DM20: Molecular studies in oligodendrocytes

Hobson, G. M., Huang, Z., Sperle, K., Sistermans, E., Rogan, P. K., Garbern, J. Y., Kolodny, E., Naidu, S. & Cambi, F., Jan 2006, In : Human Mutation. 27, 1, p. 69-77 9 p.

Research output: Contribution to journalArticle

Proteolipids
Oligodendroglia
Alternative Splicing
Information Theory
Proteins

Sulphur anion metabolism in Rett syndrome patients: A pilot study

Waring, R., Naidu, S., Skjeldal, O., Klovrza, L. & Reichelt, K. L., 2006, In : Journal of Pediatric Neurology. 4, 4, p. 233-237 5 p.

Research output: Contribution to journalArticle

Rett Syndrome
Sulfur
Anions
Sulfates
Thiosulfates
2005

Cystic leukoencephalopathy without megalencephaly: A distinct disease entity in 15 children

Henneke, M., Preuss, N., Engelbrecht, V., Aksu, F., Bertini, E., Bibat, G., Brockmann, K., Hübner, C., Mayer, M., Mejaski-Bosnjak, V., Naidu, S., Neumaier-Probst, E., Rodriguez, D., Weisz, W., Kohlschütter, A. & Gärtner, J., Apr 26 2005, In : Neurology. 64, 8, p. 1411-1416 6 p.

Research output: Contribution to journalArticle

Temporal Lobe
Cysts
Psychomotor Disorders
Leukoencephalopathies
Inborn Errors Metabolism