Research Output 2001 2017

Filter
Article
2017
Rett Syndrome
Genotype
Mutation
Electrocardiography
Sudden Death
2015

Functional outcomes in Rett syndrome

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

Research output: Contribution to journalArticle

Rett Syndrome
Mutation
Self Care
Methyl-CpG-Binding Protein 2
Physical Therapists
2014

Sildenafil does not improve cardiomyopathy in Duchenne/Becker muscular dystrophy

Leung, D. G., Herzka, D. A., Reid Thompson, W., He, B., Bibat, G., Tennekoon, G., Russell, S. D., Schuleri, K. H., Lardo, A. C., Kass, D. A., Thompson, R. E., Judge, D. P. & Wagner, K. R. Oct 1 2014 In : Annals of Neurology. 76, 4, p. 541-549 9 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Cardiomyopathies
Stroke Volume
Placebos
Clinical Trials Data Monitoring Committees
2012

A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: Family, disease and cell function

Homma, S., Chen, J. C. J., Rahimov, F., Beermann, M. L., Hanger, K., Bibat, G. M., Wagner, K. R., Kunkel, L. M., Emerson, C. P. & Miller, J. B. Apr 2012 In : European Journal of Human Genetics. 20, 4, p. 404-410 7 p.

Research output: Contribution to journalArticle

Facioscapulohumeral Muscular Dystrophy
Paraquat
Staurosporine
Glutathione
Gene Expression

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

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

Syndrome
Rett Syndrome
Mutation
Questionnaire
Phenotype

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers

Rahimov, F., King, O. D., Leung, D. G., Bibat, G. M., Emerson, C. P., Kunkel, L. M. & Wagner, K. R. Oct 2 2012 In : Proceedings of the National Academy of Sciences of the United States of America. 109, 40, p. 16234-16239 6 p.

Research output: Contribution to journalArticle

Facioscapulohumeral Muscular Dystrophy
Biological Markers
Muscles
Gene Expression
Chromosomes
2011

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
Mutation
Callosities
Cyclic AMP Receptor Protein
2010

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
White Matter
Carrier Proteins
Mutation
2009

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
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
Brain
Neuroanatomy
Occipital Lobe
Parietal Lobe
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

Megalencephaly
Leukoencephalopathies
Temporal Lobe
Cysts
Psychomotor Disorders

Deletion 9q34.3 syndrome: Genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

Yatsenko, S. A., Cheung, S. W., Scott, D. A., Nowaczyk, M. J. M., Tarnopolsky, M., Naidu, S., Bibat, G., Patel, A., Leroy, J. G., Scaglia, F., Stankiewicz, P. & Lupski, J. R. Apr 2005 In : Journal of Medical Genetics. 42, 4, p. 328-335 8 p.

Research output: Contribution to journalArticle

Histone modifications in Rett syndrome lymphocytes: A preliminary evaluation

Kaufmann, W. E., Jarrar, M. H., Wang, J. S., Lee, Y. J. M., Reddy, S., Bibat, G. & Naidu, S. Aug 2005 In : Brain and Development. 27, 5, p. 331-339 9 p.

Research output: Contribution to journalArticle

Rett Syndrome
Histones
Lymphocytes
Mutation
Acetylation

Progressive cavitating leukoencephalopathy: A novel childhood disease

Naidu, S., Bibat, G., Lin, D., Burger, P., Barker, P., Rosemberg, S., Braverman, N., Arroyo, H., Dowling, M., Hamosh, A., Kimonis, V., Blank, C., Fiumara, A., Facchini, S., Singhal, B., Moser, H., Kelley, R. & DiMauro, S. Dec 2005 In : Annals of Neurology. 58, 6, p. 929-938 10 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Magnetic Resonance Imaging
Brain
Persistent Vegetative State
Consanguinity
2004

Leukoencephalopathy, cerebral calcifications, and cysts: New observations

Nagae-Poetscher, L. M., Bibat, G., Philippart, M., Rosemberg, S., Fatemi, A., Lacerda, M. T. C., Costa, M. O. R., Kok, F., Costa Leite, C., Horská, A., Barker, P. B. & Naidu, S. Apr 13 2004 In : Neurology. 62, 7, p. 1206-1209 4 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Cysts
Retinal Telangiectasis
Consanguinity
Protons
2003

Clinical variability in Rett syndrome

Naidu, S., Bibat, G., Kratz, L., Kelley, R. I., Pevsner, J., Hoffman, E., Cuffari, C., Rohde, C., Blue, M. E. & Johnston, M. V. Oct 2003 In : Journal of Child Neurology. 18, 10, p. 662-668 7 p.

Research output: Contribution to journalArticle

Rett Syndrome
Mutation
Neurons
X Chromosome Inactivation
Missense Mutation

MeCP2 expression in human cerebral cortex and lymphoid cells: Immunochemical characterization on a novel higher-molecular-weight form

Jarrar, M. H., Danko, C. G., Reddy, S., Lee, Y. J. M., Bibat, G. & Kaufmann, W. E. Oct 2003 In : Journal of Child Neurology. 18, 10, p. 675-682 8 p.

Research output: Contribution to journalArticle

Cerebral Cortex
Molecular Weight
Lymphocytes
Antibodies
Rett Syndrome

Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: An immunochemical study of subcellular fractions

Aber, K. M., Nori, P., Macdonald, S. M., Bibat, G., Jarrar, M. H. & Kaufmann, W. E. Jan 15 2003 In : Neuroscience. 116, 1, p. 77-80 4 p.

Research output: Contribution to journalArticle

Methyl-CpG-Binding Protein 2
Subcellular Fractions
Neurons
Rett Syndrome
Histone Deacetylases

Prevalence of hearing loss in Rett syndrome

Pillion, J. P., Rawool, V. W., Bibat, G. & Naidu, S. May 1 2003 In : Developmental Medicine and Child Neurology. 45, 5, p. 338-343 6 p.

Research output: Contribution to journalArticle

Rett Syndrome
Hearing Loss
Brain Stem Auditory Evoked Potentials
Ear
Bilateral Hearing Loss

Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease

Pizzini, F., Fatemi, A. S., Barker, P. B., Nagae-Poetscher, L. M., Horská, A., Zimmerman, A. W., Moser, H. W., Bibat, G. & Naidu, S. Sep 2003 In : American Journal of Neuroradiology. 24, 8, p. 1683-1689 7 p.

Research output: Contribution to journalArticle

Pelizaeus-Merzbacher Disease
Protons
Hereditary Spastic Paraplegia
Proteolipids
Metabolome
2001

Rett syndrome: An update

Bibat, G. & Naidu, S. 2001 In : Neurologist. 7, 2, p. 73-81 9 p.

Research output: Contribution to journalArticle

Rett Syndrome
Brain
Hope
Methyl-CpG-Binding Protein 2
Third Pregnancy Trimester