ElizabethBerry-KravisMD

PubMed

• Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues.
  Diana A Abbasi, Xinyu Zhao, Stephanie M Cologna, Elizabeth Berry-Kravis> ;Neurobiology of Disease. 2024 May 1
• Developmental Associations between Cognition and Adaptive Behavior in Intellectual and Developmental Disability.
  Dakopolos, A., Condy, E., Smith, E., Harvey, D., Kaat, A., Coleman, J., Riley, K., Hessl, D., Berry-Kravis, E.> ;Research Square. 2024 Jan 8
• 1 citations
  Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome.
  Percy, A., Benke, T., Glaze, D., Peters, S., Marsh, E., An, D., Bishop, K., Youakim, J., Neul, J., Berry-Kravis, E.> ;Pediatric Neurology. 2024 Mar 1
• 2 citations
  Effects of AFQ056 on language learning in fragile X syndrome.
  Berry-Kravis, E., Abbeduto, L., Hagerman, R., Coffey, C., Cudkowicz, M., Erickson, C., McDuffie, A., Hessl, D., Ethridge, L., Tassone, F., Kaufmann, W., Friedmann, K.,...> ;The Journal of Clinical Investigation. 2023 Aug 31
• Mortality in Women across theCGG Repeat Range: The Neuroprotective Effect of Higher Education.
  Jinkuk Hong, Robert S Dembo, Leann Smith DaWalt, Mei Wang Baker, Elizabeth Berry-Kravis, Marsha R Mailick> ;Cells. 2023 Aug 24
• 5 citations
  Updated consensus guidelines on the management of Phelan-McDermid syndrome.
  Siddharth Srivastava, Mustafa Sahin, Joseph D Buxbaum, Elizabeth Berry-Kravis, Latha Valluripalli Soorya, Audrey Thurm, Jonathan A Bernstein, Afua Asante-Otoo, William...> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• 2 citations
  Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREE...
  Jorrit Tjeertes, Carlos A Bacino, Terry Jo Bichell, Lynne M Bird, Mariana Bustamante, Rebecca Crean, Shafali Jeste, Robert W Komorowski, Michelle L Krishnan, Meghan T ...> ;Journal of Neurodevelopmental Disorders. 2023 Jul 26
• 1 citations
  Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
  Niamh X Cawley, Spencer Giddens, Nicole M Farhat, Rachel A Luke, Katelin E J Scott, Hibaaq O Mohamed, An Dang Do, Elizabeth Berry-Kravis, Stephanie M Cologna, Fang Liu...> ;Molecular Genetics and Metabolism. 2023 Nov 1
• 6 citations
  Antisense oligonucleotide rescue of CGG expansion-dependentmis-splicing in fragile X syndrome restores FMRP.
  Sneha Shah, Kevin J Sharp, Sithara Raju Ponny, Jonathan Lee, Jonathan K Watts, Elizabeth Berry-Kravis, Joel D Richter> ;Proceedings of the National Academy of Sciences of the United States of America. 2023 Jul 4
• Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control.
  Laura Friedman, Meagan Lauber, Roozbeh Behroozmand, Daniel Fogerty, Dariusz Kunecki, Elizabeth Berry-Kravis, Jessica Klusek> ;Experimental Brain Research. 2023 Aug 1
• 20 citations
  Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study.
  Jeffrey L Neul, Alan K Percy, Timothy A Benke, Elizabeth M Berry-Kravis, Daniel G Glaze, Eric D Marsh, Tim Lin, Serge Stankovic, Kathie M Bishop, James M Youakim> ;Nature Medicine. 2023 Jun 1
• Expressive language sampling and outcome measures for treatment trials in fragile X and down syndromes: composite scores and psychometric properties.
  Leonard Abbeduto, Laura Del Hoyo Soriano, Elizabeth Berry-Kravis, Audra Sterling, Jamie O Edgin, Nadia Abdelnur, Andrea Drayton, Anne Hoffmann, Debra Hamilton, Daniell...> ;Scientific Reports. 2023 Jun 7
• 2 citations
  Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome.
  Robert S Dembo, Jinkuk Hong, Leann Smith DaWalt, Elizabeth M Berry-Kravis, Marsha R Mailick> ;American Journal on Intellectual and Developmental Disabilities. 2023 May 1
• Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin in Patients With Niemann-Pick Type C.
  Orsolya K Albert, Katherine Friedmann, Rebecca Jaeger, Elizabeth Berry-Kravis> ;Pediatric Neurology. 2023 Jul 1
• 1 citations
  The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities.
  Jeanine Coleman, Talia Thompson, Karen Riley, Korrie Allen, Claire Michalak, Rebecca Shields, Elizabeth Berry-Kravis, David Hessl> ;Journal of Applied Research in Intellectual Disabilities. 2023 Mar 1
• 3 citations
  Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability.
  Rebecca H Shields, Aaron Kaat, Stephanie M Sansone, Claire Michalak, Jeanine Coleman, Talia Thompson, Forrest J McKenzie, Andrew Dakopolos, Karen Riley, Elizabeth Berr...> ;Neurology. 2023 Feb 21
• 4 citations
  Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1.
  Kiersten Campbell, Niamh X Cawley, Rachel Luke, Katelin E J Scott, Nicholas Johnson, Nicole Y Farhat, Derek Alexander, Christopher A Wassif, Wenping Li, Stephanie M Co...> ;Biomarker Research. 2023 Jan 31
• 3 citations
  Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.
  Michael S Breen, Xuanjia Fan, Tess Levy, Rebecca M Pollak, Brett Collins, Aya Osman, Anna S Tocheva, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M Powell...> ;HGG Advances. 2023 Jan 12
• Lymphocytic Extracellular Signal-Regulated Kinase Dysregulation in Autism Spectrum Disorder.
  Craig A Erickson, Charles R Tessier, Christina Gross, Ernest V Pedapati, Logan K Wink, Kelli C Dominick, Rebecca C Shaffer, Hilary Rosselot, Michael P Hong, Andrew P B...> ;Journal of the American Academy of Child and Adolescent Psychiatry. 2023 May 1
• Digital gait markers to potentially distinguish fragile X-associated tremor/ataxia syndrome, Parkinson's disease, and essential tremor.
  Robertson-Dick, E., Timm, E., Ouyang, B., Liu, Y., O'Keefe, J., Pal, G., Berry-Kravis, E., Hall, D.> ;Frontiers in Neurology. 2023 Jan 1
• 2 citations
  Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration.
  Aleksandar Videnovic, Helle C V Pfeiffer, Anna Tylki-Szymańska, Elizabeth Berry-Kravis, Fatih Ezgü, Jitendra Ganju, Agnieszka Jurecka, Anthony E Lang> ;Frontiers in Neurology. 2023 Jan 1
• 4 citations
  FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.
  Nell Maltman, Leann Smith DaWalt, Jinkuk Hong, Mei Wang Baker, Elizabeth M Berry-Kravis, Murray H Brilliant, Marsha Mailick> ;American Journal on Intellectual and Developmental Disabilities. 2023 Jan 1
• 3 citations
  DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care.
  Tess Levy, Paige M Siper, Bonnie Lerman, Danielle Halpern, Jessica Zweifach, Puneet Belani, Audrey Thurm, Tjitske Kleefstra, Elizabeth Berry-Kravis, Joseph D Buxbaum, ...> ;Pediatric Neurology. 2023 Jan 1
• 1 citations
  Emerging Therapeutic Strategies for Fragile X Syndrome: Q&A.
  Ghassan Alusi, Elizabeth Berry-Kravis, David Nelson, Lauren L Orefice, Sam A Booker> ;ACS Chemical Neuroscience. 2022 Dec 21
• 5 citations
  Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.
  Neena Agrawal, Nicole Y Farhat, Ninet Sinaii, An Dang Do, Changrui Xiao, Elizabeth Berry-Kravis, Simona Bianconi, Ruturaj Masvekar, Bibiana Bielekova, Beth Solomon, Fo...> ;Genetics in Medicine. 2023 Mar 1
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