Výsledky vyhledávání - "David N. Lieberman"

Akademický článek

Distribution of hand function by age in individuals with Rett syndrome

Autor: Jeffrey L. Neul, Tim A. Benke, Eric D. Marsh, Jane B. Lane, David N. Lieberman, Steven A. Skinner, Daniel G. Glaze, Bernhard Suter, Peter T. Heydemann, Arthur A. Beisang, Shannon M. Standridge, Robin C. C. Ryther, Richard H. Haas, Lloyd J. Edwards, Amitha Ananth, Alan K. Percy

Publikováno v: Annals of the Child Neurology Society, Vol 1, Iss 3, Pp 228-238 (2023)

Abstract Objective We aimed to determine the longitudinal distribution of hand function skills in individuals with classic Rett syndrome (RTT), an X‐linked dominant neurodevelopmental disorder, and correlate with MECP2 variants. Method We conducted

Externí odkaz: https://doaj.org/article/a0d6b9c130ce49d09ab69e1545e711bb

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Akademický článek

Comparison of evoked potentials across four related developmental encephalopathies

Autor: Joni N. Saby, Sarika U. Peters, Timothy A. Benke, Shannon M. Standridge, Lindsay C. Swanson, David N. Lieberman, Heather E. Olson, Alexandra P. Key, Alan K. Percy, Jeffrey L. Neul, Charles A. Nelson, Timothy P. L. Roberts, Eric D. Marsh

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-12 (2023)

Abstract Background Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking. We have previously demonstrated the feasibility and trac

Externí odkaz: https://doaj.org/article/46442d60ccba4276b6deb5e39df9c848

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Akademický článek

Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-11 (2022)

Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily ap

Externí odkaz: https://doaj.org/article/8aae0854010443cb93ccd08bb6de4fed

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Analysis of X‐inactivation status in a Rett syndrome natural history study cohort

Autor: Xiaolan Fang, Kameryn M. Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Timothy Feyma, Robin C. Ryther, Shannon Standridge, Peter Heydemann, Mary Jones, Richard Haas, David N Lieberman, Eric D. Marsh, Tim A. Benke, Steve Skinner, Jeffrey L. Neul, Alan K. Percy, Michael J. Friez, Raymond C. Caylor

Publikováno v: Molecular Genetics & Genomic Medicine. 10

Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the MECP2 gene is subject to X-chromosome inactivation (XCI), factors including MECP2 genotypic variation, tissue differences in XCI, and ske

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96acae9e460abe1b142bc9c15f1f652b
https://doi.org/10.1002/mgg3.1917

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Phenotypic features in MECP2 duplication syndrome: Effects of age

Autor: Jeffrey L. Neul, David N. Lieberman, Sarika U. Peters, Daniel G. Glaze, Peter Heydeman, Mary Jones, Timothy Feyma, Eric D. Marsh, Steve A. Skinner, Shannon Michelle Standridge, Bernard Suter, Tim A. Benke, Arthur A. Beisang, Robin C. C. Ryther, Cary Fu, Alan K. Percy

Publikováno v: Am J Med Genet A

Background MECP2 Duplication syndrome (MDS) is a rare X-linked genomic disorder that is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. Although phenotypic features in MDS have been described, there is a limited u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52fed5263846c522d44c4916288b334f
https://doi.org/10.1002/ajmg.a.61956

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A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials

Autor: Daniel G. Glaze, Walter E. Kaufmann, Jeffrey L. Neul, Sarika U. Peters, Peter Heydemann, David N. Lieberman, Steven A. Skinner, Alan K. Percy, Melissa Raspa, Tim A. Benke, Cary Fu, Richard H. Haas, Robin C. C. Ryther, Mary Jones, Angela Gwaltney, Eric Marsh, Shannon M. Standridge, Carla Bann

Publikováno v: Am J Intellect Dev Disabil

Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females. Recent work indicates the potential for disease modifying therapies. However, there remains a need to develop outcome measures for use in clinical trials. Using data

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59b5aea5248fc57972c093c0f7cfdef
https://doi.org/10.1352/1944-7558-125.6.493

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Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder

Autor: Joni N Saby, Patrick J Mulcahey, Alexis E Zavez, Sarika U Peters, Shannon M Standridge, Lindsay C Swanson, David N Lieberman, Heather E Olson, Alexandra P Key, Alan K Percy, Jeffrey L Neul, Charles A Nelson, Timothy P L Roberts, Timothy A Benke, Eric D Marsh

Publikováno v: Brain communications. 4(4)

CDKL5 deficiency disorder is a debilitating developmental and epileptic encephalopathy for which no targeted treatment exists. A number of promising therapeutics are under development for CDKL5 deficiency disorder but a lack of validated biomarkers o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e11e4d90cff914162e9de1bc0d08b122
https://pubmed.ncbi.nlm.nih.gov/35974796

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Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study

Publikováno v: Journal of neurodevelopmental disorders. 14(1)

Background Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily applied in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0635e0642adde707ee4bb45159dded1e
https://pubmed.ncbi.nlm.nih.gov/35568815

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Multisite Study of Evoked Potentials in Rett Syndrome

Autor: Joni N. Saby, Charles A. Nelson, Shannon M. Standridge, Junko Matsuzaki, Eric D. Marsh, David N. Lieberman, Alan K. Percy, Sarika U. Peters, Tim A. Benke, Lindsay C. Swanson, Alexandra P. Key, Jeffrey L. Neul, Timothy P.L. Roberts, Clare Cutri-French

Publikováno v: Ann Neurol

Objective The aim of the current study was to evaluate the utility of evoked potentials as a biomarker of cortical function in Rett syndrome (RTT). As a number of disease-modifying therapeutics are currently under development, there is a pressing nee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ae04a0810b229b7eb7e87f6a73ce2f4
https://pubmed.ncbi.nlm.nih.gov/33480039

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Multisystem comorbidities in classic Rett syndrome: a scoping review

Autor: Eric D. Marsh, Shannon M. Standridge, Dallas Armstrong, Alan K. Percy, Kathleen J. Motil, Katie Hale, Cary Fu, Tristen Dinkel, Daniel G. Glaze, Bernhard Suter, David N. Lieberman, Mary Jones, Jeffrey L. Neul, Tim A. Benke, Jane B. Lane, Rochelle Witt

Publikováno v: BMJ Paediatrics Open
BMJ Paediatrics Open, Vol 4, Iss 1 (2020)

BackgroundRett syndrome (RTT) is a severe, progressive neurodevelopmental disorder with multisystem comorbidities that evolve across a patient’s lifespan requiring attentive coordination of subspecialty care by primary care providers. A comprehensi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59c93d7a7119fcec8975739931d0683e
https://pubmed.ncbi.nlm.nih.gov/33024833

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