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151

[American Thoracic Society American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans - ()] A107. UPDATE ON PEDIATRIC SLEEP RESEARCH - Rapid-onset Obesity With Hypothalamic Dysfunction, Hypoventilation, And Autonomic Dysregulation (ROHHAD): Neurocognitive Functioning In School-Aged Children

Patwari, Pallavi P., Zelko, Frank A., Phillips, Andrew J., Nelson, Michael N., Berry-Kravis, Elizabeth M., Koliboski, Cynthia M., Peters, Poutrise, Kenny, Anna S., Loghmanee, Darius A., Weese-Mayer, D

Year:

2010

Language:

english

File:

PDF, 18 KB

english, 2010

152

Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study

Bailey, Donald B., Berry-Kravis, Elizabeth, Gane, Louise W., Guarda, Sonia, Hagerman, Randi, Powell, Cynthia M., Tassone, Flora, Wheeler, Anne

Journal:

Year:

2017

Language:

english

File:

PDF, 327 KB

english, 2017

153

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

Dejan B. Budimirovic,Elizabeth Berry-Kravis…

Journal:

Journal of Neurodevelopmental Disorders

Year:

2017

Language:

english

File:

PDF, 939 KB

english, 2017

154

Arbaclofen in fragile X syndrome: results of phase 3 trials

Elizabeth Berry-Kravis,Randi Hagerman…

Journal:

Journal of Neurodevelopmental Disorders

Year:

2017

Language:

english

File:

PDF, 1.15 MB

english, 2017

155

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

Ory, Daniel S, Ottinger, Elizabeth A, Farhat, Nicole Yanjanin, King, Kelly A, Jiang, Xuntian, Weissfeld, Lisa, Berry-Kravis, Elizabeth, Davidson, Cristin D, Bianconi, Simona, Keener, Lee Ann, Rao, Rav

Journal:

Lancet (London, England)

Year:

2017

Language:

english

File:

PDF, 544 KB

english, 2017

156

Effect of the mGluR5-NAM Basimglurant on Behavior in Adolescents and Adults with Fragile X Syndrome in a Randomized, Double-Blind, Placebo-Controlled Trial: FragXis Phase 2 Results

Youssef, Eriene A, Berry-Kravis, Elizabeth, Czech, Christian, Hagerman, Randi J, Hessl, David, Wong, Chin Y, Rabbia, Michael, Deptula, Dennis, John, Amy, Kinch, Russell, Drewitt, Philip, Lindemann, Lo

Journal:

Neuropsychopharmacology

Year:

2017

Language:

english

File:

PDF, 4.57 MB

english, 2017

157

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome

Sherman, Stephanie L., Kidd, Sharon A., Riley, Catharine, Berry-Kravis, Elizabeth, Andrews, Howard F., Miller, Robert M., Lincoln, Sharyn, Swanson, Mark, Kaufmann, Walter E., Brown, W. Ted

Journal:

Year:

2017

Language:

english

File:

PDF, 3.90 MB

english, 2017

158

The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary

Riley, Catharine, Mailick, Marsha, Berry-Kravis, Elizabeth, Bolen, Julie

Journal:

Year:

2017

Language:

english

File:

PDF, 1.64 MB

english, 2017

159

Case 2: Unexplained Hypercarbia in a Neonate in the Neonatal Intensive Care Unit

Nanda, Debasish, Bandiya, Prathik, Nangia, Sushma, Berry-Kravis, Elizabeth

Journal:

Year:

2017

Language:

english

File:

PDF, 722 KB

english, 2017

160

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

Berry-Kravis, Elizabeth M., Lindemann, Lothar, Jønch, Aia E., Apostol, George, Bear, Mark F., Carpenter, Randall L., Crawley, Jacqueline N., Curie, Aurore, Des Portes, Vincent, Hossain, Farah, Gaspari

Journal:

Nature Reviews Drug Discovery

Year:

2017

Language:

english

File:

PDF, 633 KB

english, 2017

161

1.49 Trofinetide, A Novel IGF-1 Related Treatment for Neurodevelopmental Disorders, Demonstrates Efficacy for Children and Adolescents With Rett Syndrome

Percy, Alan, Glaze, Daniel G., Neul, Jeffrey L., Kaufmann, Walter E., Berry-Kravis, Elizabeth, Condon, Sean, Stoms, George, Glass, Larry, Jones, Nancy E.

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2017

Language:

english

File:

PDF, 233 KB

english, 2017

162

21. Auditory EEG Phenotypes in Single Gene Disorders: Insight into Heterogeneity in Idiopathic Autism

Ethridge, Lauren, Berry-Kravis, Elizabeth, Thaliath, Andrew, Isenstein, Emily, Durkin, Allison, Nelson, Charles, Baczewsi, Lauren, Powell, Craig, White, Stormi, Mosconi, Matthew, Pedapati, Ernest, Eri

Journal:

Biological Psychiatry

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

163

Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype

Collins, Stephen C., Coffee, Brad, Benke, Paul J., Berry-Kravis, Elizabeth, Gilbert, Fred, Oostra, Ben, Halley, Dicky, Zwick, Michael E., Cutler, David J., Warren, Stephen T., Feany, Mel B.

Journal:

Year:

2010

Language:

english

File:

PDF, 703 KB

english, 2010

164

Developing BACE-1 inhibitors for FXS

Westmark, Cara J., Berry-Kravis, Elizabeth M., Ikonomidou, Chrysanthy, Yin, Jerry C. P., Puglielli, Luigi

Journal:

Frontiers in Cellular Neuroscience

Year:

2013

Language:

english

File:

PDF, 2.29 MB

english, 2013

165

Utility of the Hebb–Williams Maze Paradigm for Translational Research in Fragile X Syndrome: A Direct Comparison of Mice and Humans

Boutet, Isabelle, Collin, Charles A., MacLeod, Lindsey S., Messier, Claude, Holahan, Matthew R., Berry-Kravis, Elizabeth, Gandhi, Reno M., Kogan, Cary S.

Journal:

Frontiers in Molecular Neuroscience

Year:

2018

Language:

english

File:

PDF, 1.44 MB

english, 2018

166

ASFMR1 splice variant

Vittal, Padmaja, Pandya, Shrikant, Sharp, Kevin, Berry-Kravis, Elizabeth, Zhou, Lili, Ouyang, Bichun, Jackson, Jonathan, Hall, Deborah A.

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 434 KB

english, 2018

167

Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome

Srivastava, Siddharth, Scherrer, Benoit, Prohl, Anna, Filip-Dhima, Rajna, Kapur, Kush, Kolevzon, Alexander, Buxbaum, Joseph, Berry-Kravis, Elizabeth, Soorya, Latha, Thurm, Audrey, Powell, Craig, Berns

Journal:

Pediatric Neurology

Year:

2018

Language:

english

File:

PDF, 996 KB

english, 2018

168

Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale

Hall, Deborah A., Stebbins, Glenn T., Jacquemont, Sebastien, Berry-Kravis, Elizabeth, Goetz, Christopher G., Hagerman, Randi, Zhang, Lin, Leehey, Maureen A.

Journal:

Movement Disorders Clinical Practice

Year:

2018

Language:

english

File:

PDF, 1.63 MB

english, 2018

169

Discovering translational biomarkers in neurodevelopmental disorders

Sahin, Mustafa, Jones, Stephanie R., Sweeney, John A., Berry Kravis, Elizabeth, Connors, Barry W., Ewen, Joshua B., Hartman, Adam L., Levin, April R., Potter, William Z., Mamounas, Laura A.

Journal:

Nature Reviews Drug Discovery

Year:

2018

Language:

english

File:

PDF, 585 KB

english, 2018

170

Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective

Lee, Anna, Ventola, Pamela, Budimirovic, Dejan, Berry-Kravis, Elizabeth, Visootsak, Jeannie

Journal:

Year:

2018

Language:

english

File:

PDF, 256 KB

english, 2018

171

Best Practices in Fragile X Syndrome Treatment Development

Erickson, Craig, Kaufmann, Walter, Budimirovic, Dejan, Lachiewicz, Ave, Haas-Givler, Barbara, Miller, Robert, Weber, Jayne, Abbeduto, Leonard, Hessl, David, Hagerman, Randi, Berry-Kravis, Elizabeth

Journal:

Year:

2018

Language:

english

File:

PDF, 197 KB

english, 2018

172

Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members

Sivan, Yakov, Zhou, Amy, Jennings, Lawrence J., Berry-Kravis, Elizabeth M., Yu, Min, Zhou, Lili, Rand, Casey M., Weese-Mayer, Debra E.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 635 KB

2019

173

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome

Glaze, Daniel G., Neul, Jeffrey L., Kaufmann, Walter E., Berry-Kravis, Elizabeth, Condon, Sean, Stoms, George, Oosterholt, Sean, Della Pasqua, Oscar, Glass, Larry, Jones, Nancy E., Percy, Alan K.

Journal:

Year:

2019

Language:

english

File:

PDF, 958 KB

english, 2019

174

Distribution of AGG interruption patterns within nine world populations

Yrigollen, Carolyn M., Sweha, Stefan, Durbin-Johnson, Blythe, Zhou, Lili, Berry-Kravis, Elizabeth, Fernandez-Carvajal, Isabel, Faradz, Sultana MH, Amiri, Khaled, Shaheen, Huda, Polli, Roberta, Murillo

Journal:

Intractable & Rare Diseases Research

Year:

2014

File:

PDF, 883 KB

2014

175

Mutation update for the SATB2 gene

Zarate, Yuri A., Bosanko, Katherine A., Caffrey, Aislling R., Bernstein, Jonathan A., Martin, Donna M., Williams, Marc S., Berry‐Kravis, Elizabeth M., Mark, Paul R., Manning, Melanie A., Bhambhani, Vi

Journal:

Year:

2019

Language:

english

File:

PDF, 514 KB

english, 2019

176

N-Acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease

Sidhu, Rohini, Mondjinou, Yawo, Qian, Mingxing, Song, Haowei, Kumar, Arun Babu, Hong, Xinying, Hsu, Fong-Fu, Dietzen, Dennis J., Yanjanin, Nicole M., Porter, Forbes D., Berry-Kravis, Elizabeth, Vite,

Journal:

The Journal of Lipid Research

Year:

2019

Language:

english

File:

PDF, 1.31 MB

english, 2019

177

Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation

Nayar, Kritika, McKinney, Walker, Hogan, Abigail L., Martin, Gary E., La Valle, Chelsea, Sharp, Kevin, Berry-Kravis, Elizabeth, Norton, Elizabeth S., Gordon, Peter C., Losh, Molly, Hadjikhani, Nouchin

Journal:

Year:

2019

Language:

english

File:

PDF, 1.08 MB

english, 2019

178

5.15 DRUG TREATMENT OF IRRITABILITY, AGGRESSION, AGITATION, AND SELF-INJURIOUS BEHAVIOR IN FRAGILE X SYNDROME: A LARGE-SCALE CROSS-SECTIONAL ANALYSIS

Eckert, Eleanor, Dominick, Kelli, Pedapati, Ernest V., Shaffer, Rebecca, Andrews, Howard, Kaufmann, Walter E., Tartaglia, Nicole, Berry-Kravis, Elizabeth, Erickson, Craig A.

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2019

File:

PDF, 121 KB

2019

179

Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation

Winston, Molly, Nayar, Kritika, Hogan, Abigail L., Barstein, Jamie, La Valle, Chelsea, Sharp, Kevin, Berry-Kravis, Elizabeth, Losh, Molly

Journal:

Physiology & Behavior

Year:

2020

File:

PDF, 924 KB

2020

180

Emerging pharmacological therapies in fragile X syndrome and autism

Yamasue, Hidenori, Aran, Adi, Berry-Kravis, Elizabeth

Journal:

Current Opinion in Neurology

Year:

2019

File:

PDF, 267 KB

2019

181

Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome

Klusek, Jessica, Hong, Jinkuk, Sterling, Audra, Berry-Kravis, Elizabeth, Mailick, Marsha R.

Journal:

Brain and Cognition

Year:

2020

File:

PDF, 788 KB

2020

182

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature

Kolevzon, Alexander, Delaby, Elsa, Berry-Kravis, Elizabeth, Buxbaum, Joseph D., Betancur, Catalina

Journal:

Molecular Autism

Year:

2019

File:

PDF, 758 KB

2019

183

Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS)

Hall, Deborah A., Robertson, Erin E., Leehey, Maureen, McAsey, Andrew, Ouyang, Bichun, Berry-Kravis, Elizabeth, OâKeefe, Joan A., Bayer, Antony

Journal:

Year:

2020

File:

PDF, 597 KB

2020

184

Tremorography in fragile X-associated tremor/ataxia syndrome, Parkinson's disease and essential tremor

Robertson, Erin E., Hall, Deborah A., Pal, Gian, Ouyang, Bichun, Liu, Yuanqing, Joyce, Jessica M., Berry-Kravis, Elizabeth, O'Keefe, Joan A.

Journal:

Clinical Parkinsonism & Related Disorders

Year:

2020

Language:

english

File:

PDF, 476 KB

english, 2020

185

Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity

Abbeduto, Leonardkk, Berry-Kravis, Elizabeth, Sterling, Audra, Sherman, Stephanie, Edgin, Jamie O., McDuffie, Andrea, Hoffmann, Anne, Hamilton, Debra, Nelson, Michael, Aschkenasy, Jeannie, Thurman, An

Journal:

Journal of Neurodevelopmental Disorders

Year:

2020

File:

PDF, 1.33 MB

2020

186

Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome

Coffman, Marika C., Shaffer, Rebecca C., Schmitt, Lauren M., Dominick, Kelli C., Pedapati, Ernest, Wang, Angel, Berry-Kravis, Elizabeth, Tartaglia, Nicole, Erickson, Craig A.

Journal:

Year:

2020

File:

PDF, 206 KB

2020

187

Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome

Reisinger, Debra L., Shaffer, Rebecca C., Tartaglia, Nicole, Berry-Kravis, Elizabeth, Erickson, Craig A.

Journal:

Year:

2020

File:

PDF, 1.20 MB

2020

188

Intracerebroventricular cerliponase alfa for CLN2 disease: Clinical practice considerations from US clinics

Reyes, Emily de los, Lehwald, Lenora, Augustine, Erika F., Berry-Kravis, Elizabeth, Butler, Karen, Cormier, Natalie, Demarest, Scott, Lu, Sam, Madden, Jacqueline, Olaya, Joffre, See, Susan, Vierhile,

Journal:

Pediatric Neurology

Year:

2020

File:

PDF, 873 KB

2020

189

Validation of the NIH Toolbox Cognitive Battery in intellectual disability

Shields, Rebecca H., Kaat, Aaron J., McKenzie, Forrest J., Drayton, Andrea, Sansone, Stephanie M., Coleman, Jeanine, Michalak, Claire, Riley, Karen, Berry-Kravis, Elizabeth, Gershon, Richard C., Widam

Journal:

Year:

2020

File:

PDF, 396 KB

2020

190

Epilepsy in fragile X syndrome

Berry-Kravis, Elizabeth

Journal:

Developmental Medicine & Child Neurology

Year:

2002

File:

PDF, 71 KB

2002

191

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

Sidhu, Rohini, Kell, Pamela, Dietzen, Dennis J., Farhat, Nicole Y., Do, An Ngoc Dang, Porter, Forbes D., Berry-Kravis, Elizabeth, Vite, Charles H., Reunert, Janine, Marquardt, Thorsten, Giugliani, Rob

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 1.51 MB

2020

192

Optimization of protocols for detection of de novo protein synthesis in whole blood samples via azide-alkyne cycloaddition

Bowling, Heather L., Kasper, Amanda, Patole, Chhaya, Venkatasubramani, Janani Priya, Leventer, Sarah Parker, Carmody, Erin, Sharp, Kevin, Berry-Kravis, Elizabeth, Kirshenbaum, Kent, Klann, Eric, Bhatt

Journal:

Journal of Proteome Research

Year:

2020

File:

PDF, 1.75 MB

2020

193

Response to Placebo in Fragile X Syndrome Clinical Trials: An Initial Analysis

Luu, Skylar, Province, Haley, Berry-Kravis, Elizabeth, Hagerman, Randi, Hessl, David, Vaidya, Dhananjay, Lozano, Reymundo, Rosselot, Hilary, Erickson, Craig, Kaufmann, Walter E., Budimirovic, Dejan B.

Journal:

Year:

2020

File:

PDF, 301 KB

2020

194

Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1

Thurm, Audrey, Chlebowski, Colby, Joseph, Lisa, Farmer, Cristan, Adedipe, Dee, Weiss, Madison, Wiggs, Edythe, Farhat, Nicole, Bianconi, Simona, Berry-Kravis, Elizabeth, Porter, Forbes D.

Journal:

Journal of Developmental & Behavioral Pediatrics

Year:

2020

File:

PDF, 167 KB

2020

195

17.5 ROCKET PHASE 2A TRIAL: SAFETY, TOLERABILITY, AND EFFICACY OF OV101 (GABOXADOL) IN ADOLESCENTS AND YOUNG ADULT MALES WITH FRAGILE X SYNDROME

Budimirovic, Dejan B., Dominick, Kelli C., Gabis, Lidia V., Adams, Maxwell, Adera, Mathews, Huang, Linda, Ventola, Pamela, Tartaglia, Nicole, Berry-Kravis, Elizabeth

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2020

File:

PDF, 110 KB

2020

196

[American Thoracic Society American Thoracic Society 2010 International Conference, May 14-19, 2010 â¢ New Orleans - ()] D74. CLINICAL PRESENTATION AND EPIDEMIOLOGY OF SLEEP DISORDERED BREATHING - HTR4 Variation And Sudden Infant Death Syndrome (SIDS): A Case-Control Analysis

Rand, Casey M., Berry-Kravis, Elizabeth M., Weese-Mayer, Debra E.

Year:

2010

File:

PDF, 19 KB

2010