Research Output 2006 2017

2017

Arbaclofen in fragile X syndrome: Results of phase 3 trials

Berry-Kravis, E., Hagerman, R., Visootsak, J., Budimirovic, D., Kaufmann, W. E., Cherubini, M., Zarevics, P., Walton-Bowen, K., Wang, P., Bear, M. F. & Carpenter, R. L. Jun 12 2017 In : Journal of Neurodevelopmental Disorders. 9, 1, 9

Research output: Contribution to journalArticle

Fragile X Syndrome
Placebos
Socialization
Psychological Adaptation
Parenting

Autism spectrum disorder in fragile X syndrome: Cooccurring conditions and current treatment

Kaufmann, W. E., Kidd, S. A., Andrews, H. F., Budimirovic, D. B., Esler, A., Haas-Givler, B., Stackhouse, T., Riley, C., Peacock, G., Sherman, S. L., Brown, W. T. & Berry-Kravis, E. Jun 1 2017 In : Pediatrics. 139, p. S194-S206

Research output: Contribution to journalArticle

Fragile X Syndrome
Pervasive Child Development Disorders
Diagnostic and Statistical Manual of Mental Disorders
Antipsychotic Agents
Sleep

Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome?

Budimirovic, D. B. Sep 7 2017 In : Neurotherapeutics. p. 1-3 3 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Clinical Trials
Pervasive Child Development Disorders
Intellectual Disability

Fragile X targeted pharmacotherapy: Lessons learned and future directions

Erickson, C. A., Davenport, M. H., Schaefer, T. L., Wink, L. K., Pedapati, E. V., Sweeney, J. A., Fitzpatrick, S. E., Brown, W. T., Budimirovic, D., Hagerman, R. J., Hessl, D., Kaufmann, W. E. & Berry-Kravis, E. Jun 12 2017 In : Journal of Neurodevelopmental Disorders. 9, 1, 7

Research output: Contribution to journalReview article

Drug Therapy
Fragile X Syndrome
Clinical Trials
Synaptic Transmission
Placebos

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome

Budimirovic, D. B., Berry-Kravis, E., Erickson, C. A., Hall, S. S., Hessl, D., Reiss, A. L., King, M. K., Abbeduto, L. & Kaufmann, W. E. Jun 12 2017 In : Journal of Neurodevelopmental Disorders. 9, 1, 14

Research output: Contribution to journalReview article

Fragile X Syndrome
Outcome Assessment (Health Care)
Clinical Trials
Pervasive Child Development Disorders
National Institutes of Health (U.S.)
2016
Mutation
Genes
2015

Paliperidone and aripiprazole differentially affect the strength of calcium-secretion coupling in female pituitary lactotrophs

Kucka, M., Tomić, M., Bjelobaba, I., Stojilkovic, S. S. & Budimirovic, D. B. 2015 In : Scientific Reports. 5, 8902

Research output: Contribution to journalArticle

Prolactin
Calcium
Dopamine
Calcium Signaling
Antipsychotic Agents
2014

Genomic studies in fragile X premutation carriers

Lozano, R., Hagerman, R. J., Duyzend, M., Budimirovic, D. B., Eichler, E. E. & Tassone, F. Jul 30 2014 In : Journal of Neurodevelopmental Disorders. 6, 1, 27

Research output: Contribution to journalArticle

Pervasive Child Development Disorders
Intellectual Disability
Genes
Primary Ovarian Insufficiency
5' Untranslated Regions
2013

Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders

Hinton, R., Budimirovic, D. B., Marschik, P. B., Talisa, V. B., Einspieler, C., Gipson, T. & Johnston, M. V. 2013 In : Developmental Neurorehabilitation. 16, 1, p. 58-66 9 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Pervasive Child Development Disorders
Age of Onset
Reproducibility of Results
Diagnostic and Statistical Manual of Mental Disorders
2012

Peculiarities in the gestural repertoire: An early marker for Rett syndrome?

Marschik, P. B., Sigafoos, J., Kaufmann, W. E., Wolin, T., Talisa, V. B., Bartl-Pokorny, K. D., Budimirovic, D. B., Vollmann, R. & Einspieler, C. Nov 2012 In : Research in Developmental Disabilities. 33, 6, p. 1715-1721 7 p.

Research output: Contribution to journalArticle

Rett Syndrome
Gestures

Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome

Marschik, P. B., Kaufmann, W. E., Einspieler, C., Bartl-Pokorny, K. D., Wolin, T., Pini, G., Budimirovic, D. B., Zappella, M. & Sigafoos, J. Nov 2012 In : Research in Developmental Disabilities. 33, 6, p. 1749-1756 8 p.

Research output: Contribution to journalArticle

Rett Syndrome
Videotape Recording
Communication
2011

What can we learn about autism from studying fragile X syndrome?

Budimirovic, D. B. & Kaufmann, W. E. Nov 2011 In : Developmental Neuroscience. 33, 5, p. 379-394 16 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Pervasive Child Development Disorders
Autistic Disorder
Neuroimaging
Intellectual Disability
2008

Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature

Coffee, B., Ikeda, M., Budimirovic, D. B., Hjelm, L. N., Kaufmann, W. E. & Warren, S. T. May 15 2008 In : American Journal of Medical Genetics, Part A. 146, 10, p. 1358-1367 10 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Diagnostic Errors
Trinucleotide Repeats
5' Untranslated Regions
Gene Deletion
2006

Autism spectrum disorder in fragile X syndrome: Differential contribution of adaptive socialization and social withdrawal

Budimirovic, D. B., Bukelis, I., Cox, C., Gray, R. M., Tierney, E. & Kaufmann, W. E. Sep 1 2006 In : American Journal of Medical Genetics, Part A. 140, 17, p. 1814-1826 13 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Socialization
Pervasive Child Development Disorders
Social Behavior
Emotions