Works matching AU Berry-Kravis, Elizabeth

Results: 167
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    MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

    Published in:
    Neurogenetics, 2013, v. 14, n. 2, p. 99, doi. 10.1007/s10048-013-0356-y
    By:
    • Paciorkowski, Alex;
    • Traylor, Ryan;
    • Rosenfeld, Jill;
    • Hoover, Jacqueline;
    • Harris, Catharine;
    • Winter, Susan;
    • Lacassie, Yves;
    • Bialer, Martin;
    • Lamb, Allen;
    • Schultz, Roger;
    • Berry-Kravis, Elizabeth;
    • Porter, Brenda;
    • Falk, Marni;
    • Venkat, Anu;
    • Vanzo, Rena;
    • Cohen, Julie;
    • Fatemi, Ali;
    • Dobyns, William;
    • Shaffer, Lisa;
    • Ballif, Blake
    Publication type:
    Article
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    Mutation update for the SATB2 gene.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1013, doi. 10.1002/humu.23771
    By:
    • Zarate, Yuri A.;
    • Bosanko, Katherine A.;
    • Caffrey, Aisling R.;
    • Bernstein, Jonathan A.;
    • Martin, Donna M.;
    • Williams, Marc S.;
    • Berry‐Kravis, Elizabeth M.;
    • Mark, Paul R.;
    • Manning, Melanie A.;
    • Bhambhani, Vikas;
    • Vargas, Marcelo;
    • Seeley, Andrea H.;
    • Estrada‐Veras, Juvianee I.;
    • Dooren, Marieke F.;
    • Schwab, Maria;
    • Vanderver, Adeline;
    • Melis, Daniela;
    • Alsadah, Adnan;
    • Sadler, Laurie;
    • Esch, Hilde
    Publication type:
    Article
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    Prosodic Differences in Women with the FMR1 Premutation: Subtle Expression of Autism-Related Phenotypes Through Speech.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 6, p. 2481, doi. 10.3390/ijms26062481
    By:
    • Lau, Joseph C. Y.;
    • Guilfoyle, Janna;
    • Crawford, Stephanie;
    • Johnson, Grace;
    • Landau, Emily;
    • Xing, Jiayin;
    • Kumareswaran, Mitra;
    • Ethridge, Sarah;
    • Butler, Maureen;
    • Goldman, Lindsay;
    • Martin, Gary E.;
    • Zhou, Lili;
    • Krizman, Jennifer;
    • Nicol, Trent;
    • Kraus, Nina;
    • Berry-Kravis, Elizabeth;
    • Losh, Molly
    Publication type:
    Article
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    Progression of tremor and ataxia in male carriers of the FMR1 premutation.

    Published in:
    2007
    By:
    • Leehey, Maureen A.;
    • Berry-Kravis, Elizabeth;
    • Min, Sung-Joon;
    • Hall, Deborah A.;
    • Rice, Cathlin D.;
    • Zhang, Lin;
    • Grigsby, Jim;
    • Greco, Claudia M.;
    • Reynolds, Ann;
    • Lara, Rebecca;
    • Cogswell, Jennifer;
    • Jacquemont, Sebastien;
    • Hessl, David R.;
    • Tassone, Flora;
    • Hagerman, Randi;
    • Hagerman, Paul J.
    Publication type:
    journal article
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    Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.

    Published in:
    Acta Neuropathologica, 2011, v. 122, n. 4, p. 467, doi. 10.1007/s00401-011-0860-9
    By:
    • Hunsaker, Michael;
    • Greco, Claudia;
    • Spath, Marian;
    • Smits, Arie;
    • Navarro, Celestine;
    • Tassone, Flora;
    • Kros, Johan;
    • Severijnen, Lies-Anne;
    • Berry-Kravis, Elizabeth;
    • Berman, Robert;
    • Hagerman, Paul;
    • Willemsen, Rob;
    • Hagerman, Randi;
    • Hukema, Renate
    Publication type:
    Article
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    Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study.

    Published in:
    Brain Sciences (2076-3425), 2022, v. 12, n. 3, p. 314, doi. 10.3390/brainsci12030314
    By:
    • Brašić, James Robert;
    • Goodman, Jack Alexander;
    • Nandi, Ayon;
    • Russell, David S.;
    • Jennings, Danna;
    • Barret, Olivier;
    • Martin, Samuel D.;
    • Slifer, Keith;
    • Sedlak, Thomas;
    • Mathur, Anil Kumar;
    • Seibyl, John P.;
    • Berry-Kravis, Elizabeth M.;
    • Wong, Dean F.;
    • Budimirovic, Dejan B.
    Publication type:
    Article
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    Symptoms of Autism Spectrum Disorder in Individuals with Down Syndrome.

    Published in:
    Brain Sciences (2076-3425), 2021, v. 11, n. 10, p. 1278, doi. 10.3390/brainsci11101278
    By:
    • Dimachkie Nunnally, Amanda;
    • Nguyen, Vivian;
    • Anglo, Claudine;
    • Sterling, Audra;
    • Edgin, Jamie;
    • Sherman, Stephanie;
    • Berry-Kravis, Elizabeth;
    • del Hoyo Soriano, Laura;
    • Abbeduto, Leonard;
    • Thurman, Angela John
    Publication type:
    Article
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    A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.

    Published in:
    Brain Sciences (2076-3425), 2020, v. 10, n. 10, p. 694, doi. 10.3390/brainsci10100694
    By:
    • Budimirovic, Dejan B.;
    • Schlageter, Annette;
    • Filipovic-Sadic, Stela;
    • Protic, Dragana D.;
    • Bram, Eran;
    • Mahone, E. Mark;
    • Nicholson, Kimberly;
    • Culp, Kristen;
    • Javanmardi, Kamyab;
    • Kemppainen, Jon;
    • Hadd, Andrew;
    • Sharp, Kevin;
    • Adayev, Tatyana;
    • LaFauci, Giuseppe;
    • Dobkin, Carl;
    • Zhou, Lili;
    • Brown, William Ted;
    • Berry-Kravis, Elizabeth;
    • Kaufmann, Walter E.;
    • Latham, Gary J.
    Publication type:
    Article
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    Best Practices in Fragile X Syndrome Treatment Development.

    Published in:
    Brain Sciences (2076-3425), 2018, v. 8, n. 12, p. 224, doi. 10.3390/brainsci8120224
    By:
    • Erickson, Craig A.;
    • Kaufmann, Walter E.;
    • Budimirovic, Dejan B.;
    • Lachiewicz, Ave;
    • Haas-Givler, Barbara;
    • Miller, Robert M.;
    • Weber, Jayne Dixon;
    • Abbeduto, Leonard;
    • Hessl, David;
    • Hagerman, Randi J.;
    • Berry-Kravis, Elizabeth
    Publication type:
    Article
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