38496825 | Create Study | Distribution of hand function by age in individuals with Rett syndrome. | Annals of the Child Neurology Society | Neul, Jeffrey L; Benke, Tim A; Marsh, Eric D; Lane, Jane B; Lieberman, David N; Skinner, Steven A; Glaze, Daniel G; Suter, Bernhard; Heydemann, Peter T; Beisang, Arthur A; Standridge, Shannon M; Ryther, Robin C C; Haas, Richard H; Edwards, Lloyd J; Ananth, Amitha; Percy, Alan K | September 1, 2023 | Not Determined |
38474085 | Create Study | Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions. | International journal of molecular sciences | St Peter, Caroline; Hossain, Waheeda A; Lovell, Scott; Rafi, Syed K; Butler, Merlin G | February 29, 2024 | Not Determined |
37833681 | Create Study | Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study. | Journal of neurodevelopmental disorders | Neul, Jeffrey L; Benke, Timothy A; Marsh, Eric D; Suter, Bernhard; Silveira, Lori; Fu, Cary; Peters, Sarika U; Percy, Alan K; Rett syndrome Natural History Study Group | October 13, 2023 | Not Determined |
37581718 | Create Study | Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition. | Journal of autism and developmental disorders | Gwaltney, Angela; Potter, Sarah Nelson; Peters, Sarika U; Barbieri-Welge, Rene L; Horowitz, Lucia T; Noll, Lisa M; Hundley, Rachel J; Bird, Lynne M; Tan, Wen-Hann; Sadhwani, Anjali; Wheeler, Anne | August 15, 2023 | Not Determined |
36993737 | Create Study | Top Caregiver Concerns in Rett syndrome and related disorders: data from the US Natural History Study. | Research square | Neul, Jeffrey Lorenz; Benke, Timothy A; Marsh, Eric D; Suter, Bernhard; Silveira, Lori; Fu, Cary; Peters, Sarika U; Percy, Alan K; Rett syndrome Natural History Study Group | March 20, 2023 | Not Determined |
36870948 | Create Study | Comparison of evoked potentials across four related developmental encephalopathies. | Journal of neurodevelopmental disorders | Saby, Joni N; Peters, Sarika U; Benke, Timothy A; Standridge, Shannon M; Swanson, Lindsay C; Lieberman, David N; Olson, Heather E; Key, Alexandra P; Percy, Alan K; Neul, Jeffrey L; Nelson, Charles A; Roberts, Timothy P L; Marsh, Eric D | March 4, 2023 | Not Determined |
36522453 | Create Study | Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics. | Communications biology | Frohlich, Joel; Chiang, Jeffrey N; Mediano, Pedro A M; Nespeca, Mark; Saravanapandian, Vidya; Toker, Daniel; Dell'Italia, John; Hipp, Joerg F; Jeste, Shafali S; Chu, Catherine J; Bird, Lynne M; Monti, Martin M | December 15, 2022 | Not Determined |
36372969 | Create Study | Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder. | American journal of medical genetics. Part A | Stansauk, Jessica; Fidell, Andrea; Benke, Tim; Schaffer, Michael; Demarest, Scott T | January 1, 2023 | Not Determined |
35566699 | Create Study | Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader-Willi Syndrome. | Journal of clinical medicine | Mahmoud, Ranim; Swanson, Heidi D; Butler, Merlin G; Flodman, Pamela; Gold, June-Anne; Miller, Jennifer L; Roof, Elizabeth; Osann, Kathryn; Dykens, Elisabeth; Driscoll, Daniel J; Kimonis, Virginia | May 4, 2022 | Not Determined |
35483386 | Create Study | CDKL5 deficiency disorder: clinical features, diagnosis, and management. | The Lancet. Neurology | Leonard, Helen; Downs, Jenny; Benke, Tim A; Swanson, Lindsay; Olson, Heather; Demarest, Scott | June 1, 2022 | Not Determined |
35063470 | Create Study | Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome. | The Journal of pediatrics | Motil, Kathleen J; Geerts, Suzanne; Annese, Fran; Neul, Jeffrey L; Benke, Tim; Marsh, Eric; Lieberman, David; Skinner, Steven A; Glaze, Daniel G; Heydemann, Peter; Beisang, Arthur; Standridge, Shannon; Ryther, Robin; Lane, Jane B; Edwards, Lloyd; Percy, Alan K | May 1, 2022 | Not Determined |
34979033 | Create Study | Anxiety in Angelman Syndrome. | American journal on intellectual and developmental disabilities | Grebe, Stacey C; Limon, Danica L; McNeel, Morgan M; Guzick, Andrew; Peters, Sarika U; Tan, Wen-Hann; Sadhwani, Anjali; Bacino, Carlos A; Bird, Lynne M; Samaco, Rodney C; Berry, Leandra N; Goodman, Wayne K; Schneider, Sophie C; Storch, Eric A | January 1, 2022 | Not Determined |
34841387 | Create Study | Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity. | Biological psychiatry global open science | Hipp, Joerg F; Frohlich, Joel; Keute, Marius; Tan, Wen-Hann; Bird, Lynne M | September 1, 2021 | Not Determined |
34642905 | Create Study | Electrophysiological Biomarkers in Genetic Epilepsies. | Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics | Armstrong, Caren; Marsh, Eric D | July 1, 2021 | Not Determined |
34595733 | Create Study | Clinical Trial Design for Disease-Modifying Therapies for Genetic Epilepsies. | Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics | Brock, Dylan C; Demarest, Scott; Benke, Tim A | July 1, 2021 | Not Determined |
34547934 | Create Study | Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement. | Journal of child neurology | Brock, Dylan; Fidell, Andrea; Thomas, Jacob; Juarez-Colunga, Elizabeth; Benke, Tim A; Demarest, Scott | October 1, 2021 | Not Determined |
34536900 | Create Study | Clinical Characterization of Epilepsy in Children With Angelman Syndrome. | Pediatric neurology | Cassater, Daiana; Bustamante, Mariana; Sach-Peltason, Lisa; Rotenberg, Alexander; Nespeca, Mark; Tan, Wen-Hann; Bird, Lynne M; Hipp, Joerg F | November 1, 2021 | Not Determined |
34530725 | Create Study | Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder. | Journal of neurodevelopmental disorders | Olson, Heather E; Daniels, Carolyn I; Haviland, Isabel; Swanson, Lindsay C; Greene, Caitlin A; Denny, Anne Marie M; Demarest, Scott T; Pestana-Knight, Elia; Zhang, Xiaoming; Moosa, Ahsan N; Fidell, Andrea; Weisenberg, Judith L; Suter, Bernhard; Fu, Cary; Neul, Jeffrey L; Percy, Alan K; Marsh, Eric D; Benke, Timothy A; Poduri, Annapurna | September 16, 2021 | Not Determined |
34388423 | Create Study | Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes. | Pediatric neurology | Veatch, Olivia J; Malow, Beth A; Lee, Hye-Seung; Knight, Aryn; Barrish, Judy O; Neul, Jeffrey L; Lane, Jane B; Skinner, Steven A; Kaufmann, Walter E; Miller, Jennifer L; Driscoll, Daniel J; Bird, Lynne M; Butler, Merlin G; Dykens, Elisabeth M; Gold, June-Anne; Kimonis, Virginia; Bacino, Carlos A; Tan, Wen-Hann; Kothare, Sanjeev V; Peters, Sarika U; Percy, Alan K; Glaze, Daniel G | October 1, 2021 | Not Determined |
34028805 | Create Study | Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure. | Developmental medicine and child neurology | Olson, Heather E; Costantini, Julia G; Swanson, Lindsay C; Kaufmann, Walter E; Benke, Timothy A; Fulton, Anne B; Hansen, Ronald; Poduri, Annapurna; Heidary, Gena | November 1, 2021 | Not Determined |
33517526 | Create Study | Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III. | Journal of autism and developmental disorders | Sadhwani, Anjali; Wheeler, Anne; Gwaltney, Angela; Peters, Sarika U; Barbieri-Welge, Rene L; Horowitz, Lucia T; Noll, Lisa M; Hundley, Rachel J; Bird, Lynne M; Tan, Wen-Hann | January 30, 2021 | Not Determined |
33480039 | Create Study | Multisite Study of Evoked Potentials in Rett Syndrome. | Annals of neurology | Saby, Joni N; Benke, Timothy A; Peters, Sarika U; Standridge, Shannon M; Matsuzaki, Junko; Cutri-French, Clare; Swanson, Lindsay C; Lieberman, David N; Key, Alexandra P; Percy, Alan K; Neul, Jeffrey L; Nelson, Charles A; Roberts, Timothy P L; Marsh, Eric D | April 1, 2021 | Not Determined |
33211820 | Create Study | A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials. | American journal on intellectual and developmental disabilities | Raspa, Melissa; Bann, Carla M; Gwaltney, Angela; Benke, Timothy A; Fu, Cary; Glaze, Daniel G; Haas, Richard; Heydemann, Peter; Jones, Mary; Kaufmann, Walter E; Lieberman, David; Marsh, Eric; Peters, Sarika; Ryther, Robin; Standridge, Shannon; Skinner, Steven A; Percy, Alan K; Neul, Jeffrey L | November 1, 2020 | Not Determined |
33170557 | Create Study | Phenotypic features in MECP2 duplication syndrome: Effects of age. | American journal of medical genetics. Part A | Peters, Sarika U; Fu, Cary; Marsh, Eric D; Benke, Tim A; Suter, Bernard; Skinner, Steve A; Lieberman, David N; Standridge, Shannon; Jones, Mary; Beisang, Arthur; Feyma, Timothy; Heydeman, Peter; Ryther, Robin; Glaze, Daniel G; Percy, Alan K; Neul, Jeffrey L | February 1, 2021 | Not Determined |
33024833 | Create Study | Multisystem comorbidities in classic Rett syndrome: a scoping review. | BMJ paediatrics open | Fu, Cary; Armstrong, Dallas; Marsh, Eric; Lieberman, David; Motil, Kathleen; Witt, Rochelle; Standridge, Shannon; Lane, Jane; Dinkel, Tristen; Jones, Mary; Hale, Katie; Suter, Bernhard; Glaze, Daniel; Neul, Jeffrey; Percy, Alan; Benke, Timothy | January 1, 2020 | Not Determined |
32984552 | Create Study | Consensus guidelines on managing Rett syndrome across the lifespan. | BMJ paediatrics open | Fu, Cary; Armstrong, Dallas; Marsh, Eric; Lieberman, David; Motil, Kathleen; Witt, Rochelle; Standridge, Shannon; Nues, Paige; Lane, Jane; Dinkel, Tristen; Coenraads, Monica; von Hehn, Jana; Jones, Mary; Hale, Katie; Suter, Bernhard; Glaze, Daniel; Neul, Jeffrey; Percy, Alan; Benke, Timothy | January 1, 2020 | Not Determined |
32792659 | Create Study | Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. | Molecular psychiatry | Keute, Marius; Miller, Meghan T; Krishnan, Michelle L; Sadhwani, Anjali; Chamberlain, Stormy; Thibert, Ronald L; Tan, Wen-Hann; Bird, Lynne M; Hipp, Joerg F | July 1, 2021 | Not Determined |
32698758 | Create Study | Cortisol profiles and clinical severity in MECP2 duplication syndrome. | Journal of neurodevelopmental disorders | Peters, Sarika U; Fu, Cary; Neul, Jeffrey L; Granger, Douglas A | July 2020 | Not Determined |
32669918 | Create Study | MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives. | Degenerative neurological and neuromuscular disease | Cuddapah, Vishnu Anand; Sinifunanya, Elvee Nwaobi; Percy, Alan K; Olsen, Michelle Lynne | January 1, 2015 | Not Determined |
32551137 | Create Study | High-voltage, diffuse delta rhythms coincide with wakeful consciousness and complexity in Angelman syndrome. | Neuroscience of consciousness | Frohlich, Joel; Bird, Lynne M; Dell'Italia, John; Johnson, Micah A; Hipp, Joerg F; Monti, Martin M | January 2020 | Not Determined |
32524756 | Create Study | Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning. | American journal of medical genetics. Part A | Gomez, Diego A; Bird, Lynne M; Fleischer, Nicole; Abdul-Rahman, Omar A | September 1, 2020 | Not Determined |
32472944 | Create Study | Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study. | Annals of neurology | Cutri-French, Clare; Armstrong, Dallas; Saby, Joni; Gorman, Casey; Lane, Jane; Fu, Cary; Peters, Sarika U; Percy, Alan; Neul, Jeffrey L; Marsh, Eric D | August 2020 | Not Determined |
32203572 | Create Study | Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder. | Brain : a journal of neurology | Benke, Tim A; Kind, Peter C | March 1, 2020 | Not Determined |
32161522 | Create Study | Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings. | Frontiers in integrative neuroscience | Neul, Jeffrey L; Skinner, Steven A; Annese, Fran; Lane, Jane; Heydemann, Peter; Jones, Mary; Kaufmann, Walter E; Glaze, Daniel G; Percy, Alan K | January 1, 2020 | Not Determined |
31854050 | Create Study | Neurodevelopmental profile of siblings with Angelman syndrome due to pathogenic UBE3A variants. | Journal of intellectual disability research : JIDR | Sadhwani, A; Willen, J M; Miller, H; Barbieri-Welge, R; Horowitz, L T; Noll, L M; Peters, S; Hundley, R; Bird, L M; Tan, W H | March 1, 2020 | Not Determined |
31684986 | Create Study | An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study. | Orphanet journal of rare diseases | Khan N, Cabo R, Tan WH, Tayag R, Bird LM | November 2019 | Not Determined |
31313283 | Create Study | CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. | Epilepsia | Demarest, Scott T; Olson, Heather E; Moss, Angela; Pestana-Knight, Elia; Zhang, Xiaoming; Parikh, Sumit; Swanson, Lindsay C; Riley, Katherine D; Bazin, Grace A; Angione, Katie; Niestroj, Lisa-Marie; Lal, Dennis; Juarez-Colunga, Elizabeth; Benke, Tim A | August 2019 | Not Determined |
31147226 | Create Study | Severity Assessment in CDKL5 Deficiency Disorder. | Pediatric neurology | Demarest, Scott; Pestana-Knight, Elia M; Olson, Heather E; Downs, Jenny; Marsh, Eric D; Kaufmann, Walter E; Partridge, Carol-Anne; Leonard, Helen; Gwadry-Sridhar, Femida; Frame, Katheryn Elibri; Cross, J Helen; Chin, Richard F M; Parikh, Sumit; Panzer, Axel; Weisenberg, Judith; Utley, Karen; Jaksha, Amanda; Amin, Sam; Khwaja, Omar; Devinsky, Orrin; Neul, Jeffery L; Percy, Alan K; Benke, Tim A | August 2019 | Not Determined |
31090212 | Create Study | Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study. | Molecular genetics & genomic medicine | Khan, Nasreen; Cabo, Raquel; Tan, Wen-Hann; Tayag, Regina; Bird, Lynne M | July 2019 | Not Determined |
31053667 | Create Study | Hand stereotypies: Lessons from the Rett Syndrome Natural History Study. | Neurology | Stallworth, Jennifer L; Dy, Marisela E; Buchanan, Caroline B; Chen, Chin-Fu; Scott, Alexandra E; Glaze, Daniel G; Lane, Jane B; Lieberman, David N; Oberman, Lindsay M; Skinner, Steven A; Tierney, Aubin E; Cutter, Gary R; Percy, Alan K; Neul, Jeffrey L; Kaufmann, Walter E | May 28, 2019 | Not Determined |
30942555 | Create Study | Maladaptive behaviors in individuals with Angelman syndrome. | American journal of medical genetics. Part A | Sadhwani, Anjali; Willen, Jennifer M; LaVallee, Nicole; Stepanians, Miganush; Miller, Hillary; Peters, Sarika U; Barbieri-Welge, Rene L; Horowitz, Lucia T; Noll, Lisa M; Hundley, Rachel J; Bird, Lynne M; Tan, Wen-Hann | June 2019 | Not Determined |
30928302 | Create Study | Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. | Pediatric neurology | Olson, Heather E; Demarest, Scott T; Pestana-Knight, Elia M; Swanson, Lindsay C; Iqbal, Sumaiya; Lal, Dennis; Leonard, Helen; Cross, J Helen; Devinsky, Orrin; Benke, Tim A | August 2019 | Not Determined |
30826071 | Create Study | Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes. | Biological psychiatry | Frohlich J, Miller MT, Bird LM, Garces P, Purtell H, Hoener MC, Philpot BD, Sidorov MS, Tan WH, Hernandez MC, Rotenberg A, Jeste SS, Krishnan M, Khwaja O, Hipp JF | May 2019 | Not Determined |
30788845 | Create Study | Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome. | Clinical genetics | Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK | May 2019 | Not Determined |
30664568 | Create Study | Biliary Tract Disease in Girls and Young Women With Rett Syndrome. | Journal of pediatric gastroenterology and nutrition | Motil, Kathleen J; Lane, Jane B; Barrish, Judy O; Annese, Fran; Geerts, Suzanne; McNair, Lauren; Skinner, Steven A; Neul, Jeffrey L; Glaze, Daniel G; Percy, Alan K | June 2019 | Not Determined |
30649225 | Create Study | Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. | Brain : a journal of neurology | Banerjee A, Miller MT, Li K, Sur M, Kaufmann WE | February 2019 | Not Determined |
30556641 | Create Study | Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes. | American journal of medical genetics. Part A | Mahmoud, Ranim; Singh, Preeti; Weiss, Lan; Lakatos, Anita; Oakes, Melanie; Hossain, Waheeda; Butler, Merlin G; Kimonis, Virginia | January 2019 | Not Determined |
30536762 | Create Study | The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. | American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | Neul, Jeffrey L; Benke, Timothy A; Marsh, Eric D; Skinner, Steven A; Merritt, Jonathan; Lieberman, David N; Standridge, Shannon; Feyma, Timothy; Heydemann, Peter; Peters, Sarika; Ryther, Robin; Jones, Mary; Suter, Bernhard; Kaufmann, Walter E; Glaze, Daniel G; Percy, Alan K | January 2019 | Not Determined |
30217666 | Create Study | Behavioral profiles in Rett syndrome: Data from the natural history study. | Brain & development | Buchanan CB, Stallworth JL, Scott AE, Glaze DG, Lane JB, Skinner SA, Tierney AE, Percy AK, Neul JL, Kaufmann WE | February 2019 | Not Determined |
29737008 | Create Study | Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform. | American journal of medical genetics. Part A | Sadhwani, Anjali; Sanjana, Neville E; Willen, Jennifer M; Calculator, Stephen N; Black, Emily D; Bean, Lora J H; Li, Hong; Tan, Wen-Hann | July 2018 | Not Determined |
29730598 | Create Study | Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. | Journal of medical genetics | Butler MG, Hartin SN, Hossain WA, Manzardo AM, Kimonis V, Dykens E, Gold JA, Kim SJ, Weisensel N, Tamura R, Miller JL, Driscoll DJ | March 2019 | Not Determined |
29681103 | Create Study | Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. | American journal of medical genetics. Part A | Gold, June-Anne; Mahmoud, Ranim; Cassidy, Suzanne B; Kimonis, Virginia | May 2018 | Not Determined |
29657083 | Create Study | The course of awake breathing disturbances across the lifespan in Rett syndrome. | Brain & development | Tarquinio DC, Hou W, Neul JL, Berkmen GK, Drummond J, Aronoff E, Harris J, Lane JB, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Percy AK | April 2018 | Not Determined |
29264392 | Create Study | CDKL5 variants: Improving our understanding of a rare neurologic disorder. | Neurology. Genetics | Hector, Ralph D; Kalscheuer, Vera M; Hennig, Friederike; Leonard, Helen; Downs, Jenny; Clarke, Angus; Benke, Tim A; Armstrong, Judith; Pineda, Mercedes; Bailey, Mark E S; Cobb, Stuart R | December 1, 2017 | Not Determined |
28944563 | Create Study | A randomized controlled trial of levodopa in patients with Angelman syndrome. | American journal of medical genetics. Part A | Tan, Wen-Hann; Bird, Lynne M; Sadhwani, Anjali; Barbieri-Welge, Rene L; Skinner, Steven A; Horowitz, Lucia T; Bacino, Carlos A; Noll, Lisa M; Fu, Cary; Hundley, Rachel J; Wink, Logan K; Erickson, Craig A; Barnes, Gregory N; Slavotinek, Anne; Jeremy, Rita; Rotenberg, Alexander; Kothare, Sanjeev V; Olson, Heather E; Poduri, Annapurna; Nespeca, Mark P; Chu, Hillary C; Willen, Jennifer M; Haas, Kevin F; Weeber, Edwin J; Rufo, Paul A | May 2018 | Not Determined |
28838622 | Create Study | Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. | Pediatric neurology | Dy ME, Waugh JL, Sharma N, O'Leary H, Kapur K, D'Gama AM, Sahin M, Urion DK, Kaufmann WE | October 2017 | Relevant |
28347601 | Create Study | Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. | Pediatric neurology | Killian, John T; Lane, Jane B; Lee, Hye-Seung; Skinner, Steve A; Kaufmann, Walter E; Glaze, Daniel G; Neul, Jeffrey L; Percy, Alan K | May 2017 | Not Relevant |
28163986 | Create Study | Neurobiologically-based treatments in Rett syndrome: opportunities and challenges. | Expert opinion on orphan drugs | Kaufmann, Walter E; Stallworth, Jennifer L; Everman, David B; Skinner, Steven A | October 2016 | Not Determined |
28132121 | Create Study | Assessment of Caregiver Inventory for Rett Syndrome. | Journal of autism and developmental disorders | Lane JB, Salter AR, Jones NE, Cutter G, Horrigan J, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK | January 2017 | Relevant |
28007990 | Create Study | Longitudinal course of epilepsy in Rett syndrome and related disorders. | Brain : a journal of neurology | Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG | February 2017 | Relevant |
27929079 | Create Study | From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. | Scientific reports | Sheikh TI, Ausió J, Faghfoury H, Silver J, Lane JB, Eubanks JH, Macleod P, Percy AK, Vincent JB | December 2016 | Not Determined |
27828991 | Create Study | Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome. | PloS one | Ward CS, Huang TW, Herrera JA, Samaco RC, Pitcher MR, Herron A, Skinner SA, Kaufmann WE, Glaze DG, Percy AK, Neul JL | January 2016 | Not Relevant |
27815692 | Create Study | Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century. | Current neurology and neuroscience reports | Kaufmann WE | December 2016 | Not Determined |
27570781 | Create Study | EVALUATION OF PLASMA SUBSTANCE P AND BETA-ENDORPHIN LEVELS IN CHILDREN WITH PRADER-WILLI SYNDROME. | The Journal of rare disorders | Butler, M G; Nelson, T A; Driscoll, D J; Manzardo, A M | September 2015 | Not Relevant |
27491553 | Create Study | Progress in Rett Syndrome: from discovery to clinical trials. | Wiener medizinische Wochenschrift (1946) | Percy AK | September 2016 | Not Relevant |
27194034 | Create Study | The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. | Orphanet journal of rare diseases | Merkel PA, Manion M, Gopal-Srivastava R, Groft S, Jinnah HA, Robertson D, Krischer JP, | May 2016 | Not Relevant |
27171548 | Create Study | Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. | Genetics in medicine : official journal of the American College of Medical Genetics | Sajan, Samin A; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; Lupski, James R; Glaze, Daniel G; Kaufmann, Walter E; Skinner, Steven A; Annese, Fran; Friez, Michael J; Lane, Jane; Percy, Alan K; Neul, Jeffrey L | January 1, 2017 | Not Relevant |
26995066 | Create Study | Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors. | Pediatric neurology | Killian JT, Lane JB, Lee HS, Pelham JH, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK | May 2016 | Relevant |
26883647 | Create Study | Life Satisfaction Among Mothers of Individuals with Prader-Willi Syndrome. | Journal of autism and developmental disorders | Shivers CM, Leonczyk CL, Dykens EM | June 2016 | Not Determined |
26615966 | Create Study | Elevated plasma oxytocin levels in children with Prader-Willi syndrome compared with healthy unrelated siblings. | American journal of medical genetics. Part A | Johnson, Lisa; Manzardo, Ann M; Miller, Jennifer L; Driscoll, Daniel J; Butler, Merlin G | March 2016 | Not Determined |
26332183 | Create Study | Visual evoked potentials detect cortical processing deficits in Rett syndrome. | Annals of neurology | Leblanc JJ, Degregorio G, Centofante E, Vogel-Farley VK, Barnes K, Kaufmann WE, Fagiolini M, Nelson CA | November 2015 | Relevant |
26278631 | Create Study | The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders. | Pediatric neurology | Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK | November 2015 | Relevant |
26076992 | Create Study | Therapeutic Advances in Autism and Other Neurodevelopmental Disorders. | Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics | Neul, Jeffrey L; Sahin, Mustafa | July 2015 | Not Relevant |
25914188 | Create Study | Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. | American journal of medical genetics. Part A | Olson, Heather E; Tambunan, Dimira; LaCoursiere, Christopher; Goldenberg, Marti; Pinsky, Rebecca; Martin, Emilie; Ho, Eugenia; Khwaja, Omar; Kaufmann, Walter E; Poduri, Annapurna | September 2015 | Not Relevant |
25895911 | Create Study | Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale. | Journal of child neurology | Neul JL, Glaze DG, Percy AK, Feyma T, Beisang A, Dinh T, Suter B, Anagnostou E, Snape M, Horrigan J, Jones NE | November 2015 | Relevant |
25861995 | Create Study | Rett Syndrome: Reaching for Clinical Trials. | Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics | Pozzo-Miller, Lucas; Pati, Sandipan; Percy, Alan K | July 2015 | Not Relevant |
25801175 | Create Study | Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis. | Pediatric neurology | Tarquinio DC, Hou W, Neul JL, Lane JB, Barnes KV, O'Leary HM, Bruck NM, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Annese F, Baggett L, Barrish JO, Geerts SP, Percy AK | June 2015 | Relevant |
25713300 | Create Study | Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs. | Disease models & mechanisms | Herrera JA, Ward CS, Pitcher MR, Percy AK, Skinner S, Kaufmann WE, Glaze DG, Wehrens XH, Neul JL | April 2015 | Not Relevant |
25705109 | Create Study | Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes. | Advances in genomics and genetics | Butler, Merlin G; Wang, Kun; Marshall, Jan D; Naggert, Jürgen K; Rethmeyer, Jasmine A; Gunewardena, Sumedha S; Manzardo, Ann M | 2015 | Not Relevant |
25355237 | Create Study | Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia. | American journal of medical genetics. Part A | Kweh, Frederick A; Miller, Jennifer L; Sulsona, Carlos R; Wasserfall, Clive; Atkinson, Mark; Shuster, Jonathan J; Goldstone, Anthony P; Driscoll, Daniel J | January 2015 | Relevant |
25283752 | Create Study | Pubertal development in Rett syndrome deviates from typical females. | Pediatric neurology | Killian JT, Lane JB, Cutter GR, Skinner SA, Kaufmann WE, Tarquinio DC, Glaze DG, Motil KJ, Neul JL, Percy AK | December 2014 | Relevant |
25083850 | Create Study | Localization of sleep spindles, k-complexes, and vertex waves with subdural electrodes in children. | Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society | Pinto AL, Fernández IS, Peters JM, Manganaro S, Singer JM, Vendrame M, Prabhu SP, Loddenkemper T, Kothare SV | August 2014 | Relevant |
25071871 | Create Study | Developmental delay in Rett syndrome: data from the natural history study. | Journal of neurodevelopmental disorders | Neul JL, Lane JB, Lee HS, Geerts S, Barrish JO, Annese F, Baggett LM, Barnes K, Skinner SA, Motil KJ, Glaze DG, Kaufmann WE, Percy AK | 2014 | Relevant |
24776956 | Create Study | Induced gamma oscillations differentiate familiar and novel voices in children with MECP2 duplication and Rett syndromes. | Journal of child neurology | Peters SU, Gordon RL, Key AP | February 2015 | Relevant |
24515997 | Create Study | Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome. | Journal of pediatric endocrinology & metabolism : JPEM | Khare M, Gold JA, Wencel M, Billimek J, Surampalli A, Duarte B, Pontello A, Galassetti P, Cassidy S, Kimonis VE | May 2014 | Relevant |
23953953 | Create Study | Long-term response to high-dose diazepam treatment in continuous spikes and waves during sleep. | Pediatric neurology | Sánchez Fernández I, Peters JM, An S, Bergin AM, Takeoka M, Rotenberg A, Kothare SV, Riviello JJ, Loddenkemper T | September 2013 | Relevant |
23928912 | Create Study | Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. | Genetics in medicine : official journal of the American College of Medical Genetics | Gold JA, Ruth C, Osann K, Flodman P, Mcmanus B, Lee HS, Donkervoort S, Khare M, Roof E, Dykens E, Miller JL, Driscoll DJ, Butler MG, Heinemann J, Cassidy S, Kimonis VE | February 2014 | Relevant |
23433655 | Create Study | Effects of growth hormone treatment in adults with Prader-Willi syndrome. | Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society | Butler, M G; Smith, B K; Lee, J; Gibson, C; Schmoll, C; Moore, W V; Donnelly, J E | June 2013 | Relevant |
22484792 | Create Study | Leisure activities in Prader-Wili syndrome: implications for health, cognition and adaptive functioning. | Journal of autism and developmental disorders | Dykens EM | February 2014 | Relevant |
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22331013 | Create Study | Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome. | Journal of pediatric gastroenterology and nutrition | Motil, Kathleen J; Caeg, Erwin; Barrish, Judy O; Geerts, Suzanne; Lane, Jane B; Percy, Alan K; Annese, Fran; McNair, Lauren; Skinner, Steven A; Lee, Hye-Seung; Neul, Jeffrey L; Glaze, Daniel G | September 2012 | Relevant |
22013176 | Create Study | Clinical severity and quality of life in children and adolescents with Rett syndrome. | Neurology | Lane JB, Lee HS, Smith LW, Cheng P, Percy AK, Glaze DG, Neul JL, Motil KJ, Barrish JO, Skinner SA, Annese F, Mcnair L, Graham J, Khwaja O, Barnes K, Krischer JP | November 15, 2011 | Relevant |
22002941 | Create Study | A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. | American journal of medical genetics. Part A | Bird, Lynne M; Tan, Wen-Hann; Bacino, Carlos A; Peters, Sarika U; Skinner, Steven A; Anselm, Irina; Barbieri-Welge, Rene; Bauer-Carlin, Astrid; Gentile, Jennifer K; Glaze, Daniel G; Horowitz, Lucia T; Mohan, K Naga; Nespeca, Mark P; Sahoo, Trilochan; Sarco, Dean; Waisbren, Susan E; Beaudet, Arthur L | December 2011 | Relevant |
21977908 | Create Study | Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. | Genetic testing and molecular biomarkers | Henkhaus RS, Kim SJ, Kimonis VE, Gold JA, Dykens EM, Driscoll DJ, Butler MG | March 2012 | Relevant |
21831244 | Create Study | Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class. | Journal of child psychology and psychiatry, and allied disciplines | Peters SU, Horowitz L, Barbieri-Welge R, Taylor JL, Hundley RJ | February 2012 | Relevant |
21637127 | Create Study | Vitamin D deficiency is prevalent in girls and women with Rett syndrome. | Journal of pediatric gastroenterology and nutrition | Motil KJ, Barrish JO, Lane J, Geerts SP, Annese F, Mcnair L, Percy AK, Skinner SA, Neul JL, Glaze DG | November 2011 | Relevant |
21465655 | Create Study | Nutritional phases in Prader-Willi syndrome. | American journal of medical genetics. Part A | Miller, Jennifer L; Lynn, Christy H; Driscoll, Danielle C; Goldstone, Anthony P; Gold, June-Anne; Kimonis, Virginia; Dykens, Elisabeth; Butler, Merlin G; Shuster, Jonathan J; Driscoll, Daniel J | May 2011 | Relevant |
21418060 | Create Study | TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader-Willi syndrome. | Journal of child psychology and psychiatry, and allied disciplines | Dykens EM, Roof E, Bittel D, Butler MG | May 2011 | Relevant |
21402637 | Create Study | Growth standards of infants with Prader-Willi syndrome. | Pediatrics | Butler MG, Sturich J, Lee J, Myers SE, Whitman BY, Gold JA, Kimonis V, Scheimann A, Terrazas N, Driscoll DJ | April 2011 | Relevant |
21121904 | Create Study | Alterations in white matter pathways in Angelman syndrome. | Developmental medicine and child neurology | Peters SU, Kaufmann WE, Bacino CA, Anderson AW, Adapa P, Chu Z, Yallampalli R, Traipe E, Hunter JV, Wilde EA | April 2011 | Relevant |
20729760 | Create Study | A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. | Journal of developmental and behavioral pediatrics : JDBP | Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU | September 2010 | Relevant |
20032810 | Create Study | Profiling scoliosis in Rett syndrome. | Pediatric research | Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J, Mcnair L, Motil KJ, Barrish JO, Glaze DG | April 2010 | Relevant |
19772971 | Create Study | Longevity in Rett syndrome: analysis of the North American Database. | The Journal of pediatrics | Kirby RS, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, Macleod P, Percy AK | January 2010 | Relevant |
19225139 | Create Study | A study of the treatment of Rett syndrome with folate and betaine. | Journal of child neurology | Glaze DG, Percy AK, Motil KJ, Lane JB, Isaacs JS, Schultz RJ, Barrish JO, Neul JL, O'Brien WE, Smith EO | May 2009 | Relevant |