Authors: Müller, Annelieke R., van Silfhout, Nadia Y., den Hollander, Bibiche, Kampman, Dick H. C., Bakkum, Lianne, Brands, Marion M. M. G., Haverman, Lotte, Terwee, Caroline B., Schuengel, Carlo, Daams, Joost, Hessl, David, Wijburg, Frits A., Boot, Erik, van Eeghen, Agnies M.
Superior Title: Müller , A R , van Silfhout , N Y , den Hollander , B , Kampman , D H C , Bakkum , L , Brands , M M M G , Haverman , L , Terwee , C B , Schuengel , C , Daams , J , Hessl , D , Wijburg , F A , Boot , E & van Eeghen , A M 2024 , ' Navigating the outcome maze : a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability ' , Therapeutic Advances in Rare ....
Authors: Müller, Annelieke, van Silfhout, Nadia, den Hollander, Bibiche, Kampman, Dick, Bakkum, Lianne, Brands, Marion, Haverman, Lotte, Terwee, Caroline, Schuengel, Carlo, Daams, Joost, Wijburg, Frits, Boot, Erik, van Eeghen, Agnies, Hessl, David
Subject Terms: intellectual disability, measures, outcomes, psychiatry, quality of life, rare genetic disorders
File Description: application/pdf
Relation: qt9ds5s9wc; https://escholarship.org/uc/item/9ds5s9wc
Availability: https://escholarship.org/uc/item/9ds5s9wc
Authors: Müller, Annelieke R., van Silfhout, Nadia Y., den Hollander, Bibiche, Kampman, Dick H. C., Bakkum, Lianne, Brands, Marion M. M. G., Haverman, Lotte, Terwee, Caroline B., Schuengel, Carlo, Daams, Joost, Hessl, David, Wijburg, Frits A., Boot, Erik, van Eeghen, Agnies M.
Subject Terms: Medicine
Authors: Berry-Kravis, Elizabeth, Abbeduto, Leonard, Hagerman, Randi, Coffey, Christopher S, Cudkowicz, Merit, Erickson, Craig A, McDuffie, Andrea, Hessl, David, Ethridge, Lauren, Tassone, Flora, Kaufmann, Walter E, Friedmann, Katherine, Bullard, Lauren, Hoffmann, Anne, Veenstra-VanderWeele, Jeremy, Staley, Kevin, Klements, David, Moshinsky, Michael, Harkey, Brittney, Long, Jeff, Fedler, Janel, Klingner, Elizabeth, Ecklund, Dixie, Costigan, Michele, Huff, Trevis, Pearson, Brenda, Investigators, NeuroNEXT FXLEARN
Superior Title: Journal of Clinical Investigation, vol 134, iss 5
Subject Terms: Biomedical and Clinical Sciences, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Behavioral and Social Science, Fragile X Syndrome, Clinical Research, Pediatric, Brain Disorders, Clinical Trials and Supportive Activities, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Mental health, Adult, Animals, Child, Humans, Single-Blind Method, Learning, Language, Cleft Palate, Indoles, Malignant Hyperthermia, Myotonia Congenita, NeuroNEXT FXLEARN Investigators, Clinical trials, Neurodevelopment, Neuroscience, Translation, Medical and Health Sciences, Immunology
File Description: application/pdf
Relation: qt692748zc; https://escholarship.org/uc/item/692748zc
Availability: https://escholarship.org/uc/item/692748zc
Authors: Elias-Mas, Andrea, Wang, Jun Yi, Rodríguez-Revenga, Laia, Kim, Kyoungmi, Tassone, Flora, Hessl, David, Rivera, Susan M., Hagerman, Randi
Superior Title: In Journal of the Neurological Sciences 15 June 2024 461
Authors: Müller, Annelieke R., van Silfhout, Nadia Y., den Hollander, Bibiche, Kampman, Dick H. C., Bakkum, Lianne, Brands, Marion M. M. G., Haverman, Lotte, Terwee, Caroline B., Schuengel, Carlo, Daams, Joost, Hessl, David, Wijburg, Frits A., Boot, Erik, van Eeghen, Agnies M.
Subject Terms: Medicine
Availability:
https://doi.org/10.25384/sage.25697634.v110.25384/sage.2569763410.1177/26330040241245721
https://sage.figshare.com/articles/journal_contribution/sj-docx-1-trd-10_1177_26330040241245721_Supplemental_material_for_Navigating_the_outcome_maze_a_scoping_review_of_outcomes_and_instruments_in_clinical_trials_in_genetic_neurodevelopmental_disorders_and_intellectual_disability/25697634/1
Authors: Müller, Annelieke R., van Silfhout, Nadia Y., den Hollander, Bibiche, Kampman, Dick H. C., Bakkum, Lianne, Brands, Marion M. M. G., Haverman, Lotte, Terwee, Caroline B., Schuengel, Carlo, Daams, Joost, Hessl, David, Wijburg, Frits A., Boot, Erik, van Eeghen, Agnies M.
Subject Terms: Medicine
Availability:
https://doi.org/10.25384/sage.25697637.v110.25384/sage.2569763710.1177/26330040241245721
https://sage.figshare.com/articles/journal_contribution/sj-docx-3-trd-10_1177_26330040241245721_Supplemental_material_for_Navigating_the_outcome_maze_a_scoping_review_of_outcomes_and_instruments_in_clinical_trials_in_genetic_neurodevelopmental_disorders_and_intellectual_disability/25697637/1
Authors: Aishworiya, Ramkumar, Tak, Ye Eun, Ponzini, Matthew Dominic, Biag, Hazel Maridith Barlahan, Salcedo‐Arellano, Maria Jimena, Kim, Kyoungmi, Tassone, Flora, Schneider, Andrea, Thurman, Angela John, Abbeduto, Leonard, Hessl, David, Randol, Jamie Leah, Bolduc, Francois V, Lippe, Sarah, Hagerman, Paul, Hagerman, Randi
Superior Title: International Journal of Developmental Neuroscience, vol 83, iss 8
Subject Terms: Biological Psychology, Psychology, Pediatric, Clinical Research, Mental Health, Intellectual and Developmental Disabilities (IDD), Fragile X Syndrome, Behavioral and Social Science, Rare Diseases, Brain Disorders, Autism, Humans, Child, Adolescent, Young Adult, Adult, Autism Spectrum Disorder, Autistic Disorder, RNA, Messenger, Cognition, Fragile X Mental Retardation Protein, CYFIP1 mRNA, FMRP, MMP9, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery
Subject Geographic: 715 - 727
File Description: application/pdf
Relation: qt5cv9001w; https://escholarship.org/uc/item/5cv9001w
Availability: https://escholarship.org/uc/item/5cv9001w
Authors: Hessl, David, Mandujano Rojas, Karina, Ferrer, Emilio, Espinal, Glenda, Famula, Jessica, Schneider, Andrea, Hagerman, Randi, Tassone, Flora, Rivera, Susan M.
Contributors: National Institute of Child Health and Human Development
Superior Title: Movement Disorders ; volume 39, issue 3, page 519-525 ; ISSN 0885-3185 1531-8257
Subject Terms: Neurology (clinical), Neurology
Availability: https://doi.org/10.1002/mds.29695
Authors: Talapatra, Devadrita, Snider, Laurel, Coleman, Jeanine, Thompson, Talia, Reinhardt, Jessica S, Hessl, David, Riley, Karen
Superior Title: Journal of Applied Research in Intellectual Disabilities, vol 36, iss 6
Subject Terms: Cognitive and Computational Psychology, Psychology, Intellectual and Developmental Disabilities (IDD), Mind and Body, Clinical Research, Brain Disorders, Pediatric Research Initiative, Mental health, Quality Education, Humans, Intellectual Disability, Neuropsychological Tests, Psychometrics, Schools, Students, cognitive testing, deviation score, Social Work, Cognitive Sciences, Rehabilitation, Health services and systems, Applied and developmental psychology, Clinical and health psychology
Time: 1218 - 1228
File Description: application/pdf
Relation: qt7k04d8q3; https://escholarship.org/uc/item/7k04d8q3
Availability: https://escholarship.org/uc/item/7k04d8q3
Authors: Tassone, Flora, Protic, Dragana, Allen, Emily Graves, Archibald, Alison D., Baud, Anna, Brown, Ted W., Budimirovic, Dejan B., Cohen, Jonathan, Dufour, Brett, Eiges, Rachel, Elvassore, Nicola, Gabis, Lidia V., Grudzien, Samantha J., Hall, Deborah A., Hessl, David, Hogan, Abigail, Hunter, Jessica Ezzell, Jin, Peng, Jiraanont, Poonnada, Klusek, Jessica, Kooy, R. Frank, Kraan, Claudine M., Laterza, Cecilia, Lee, Andrea, Lipworth, Karen, Losh, Molly, Loesch, Danuta, Lozano, Reymundo, Mailick, Marsha R., Manolopoulos, Apostolos, Martinez-Cerdeno, Veronica, McLennan, Yingratana, Miller, Robert M., Montanaro, Federica Alice Maria, Mosconi, Matthew W., Potter, Sarah Nelson, Raspa, Melissa, Rivera, Susan M., Shelly, Katharine, Todd, Peter K., Tutak, Katarzyna, Wang, Jun Yi, Wheeler, Anne, Winarni, Tri Indah, Zafarullah, Marwa, Hagerman, Randi J.
Superior Title: Cells
Subject Terms: Review
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10529056/; http://dx.doi.org/10.3390/cells12182330
Superior Title: Res Sq
Subject Terms: Article
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10153370/; http://www.ncbi.nlm.nih.gov/pubmed/37131607; http://dx.doi.org/10.21203/rs.3.rs-2787281/v1
Authors: Hogan, Abigail, Hunter, Jessica, Jin, Peng, Jiraanont, Poonnada, Klusek, Jessica, Kooy, R, Kraan, Claudine, Laterza, Cecilia, Lee, Andrea, Lipworth, Karen, Losh, Molly, Loesch, Danuta, Lozano, Reymundo, Mailick, Marsha, Manolopoulos, Apostolos, Protic, Dragana, Allen, Emily, Archibald, Alison, Baud, Anna, Brown, Ted, Budimirovic, Dejan, Cohen, Jonathan, Dufour, Brett, Eiges, Rachel, Elvassore, Nicola, Gabis, Lidia, Grudzien, Samantha, Hall, Deborah, McLennan, Yingratana, Miller, Robert, Montanaro, Federica, Mosconi, Matthew, Potter, Sarah, Raspa, Melissa, Shelly, Katharine, Todd, Peter, Tutak, Katarzyna, Wheeler, Anne, Winarni, Tri, Zafarullah, Marwa, Rivera, Susan, Hagerman, Randi, Hessl, David, Martinez-Cerdeno, Veronica, Tassone, Flora, Wang, Jun
Superior Title: Cells, vol 12, iss 18
Subject Terms: FMR1 molecular and clinical, FMR1 premutation, FXAND, FXPAC, FXPOI, FXTAS
File Description: application/pdf
Relation: qt4729245w; https://escholarship.org/uc/item/4729245w
Availability: https://escholarship.org/uc/item/4729245w
Authors: Coleman, Jeanine, Thompson, Talia, Riley, Karen, Allen, Korrie, Michalak, Claire, Shields, Rebecca, Berry-Kravis, Elizabeth, Hessl, David
Superior Title: Journal of Applied Research in Intellectual Disabilities, vol 36, iss 2
Subject Terms: 5 min speech sample, expressed emotion, fragile X syndrome, intellectual disability, Child, Humans, Parents, Parent-Child Relations
File Description: application/pdf
Relation: qt0m00607k; https://escholarship.org/uc/item/0m00607k
Availability: https://escholarship.org/uc/item/0m00607k
Authors: Aishworiya, Ramkumar, Chi, Mei-Hung, Zafarullah, Marwa, Mendoza, Guadalupe, Ponzini, Matthew Dominic, Kim, Kyoungmi, Biag, Hazel Maridith Barlahan, Thurman, Angela John, Abbeduto, Leonard, Hessl, David, Randol, Jamie Leah, Bolduc, Francois V, Jacquemont, Sebastien, Lippé, Sarah, Hagerman, Paul, Hagerman, Randi, Schneider, Andrea, Tassone, Flora
Superior Title: Cells, vol 12, iss 14
Subject Terms: Biological Sciences, Biomedical and Clinical Sciences, Fragile X Syndrome, Rare Diseases, Obesity, Intellectual and Developmental Disabilities (IDD), Clinical Research, Autism, Mental Health, Behavioral and Social Science, Clinical Trials and Supportive Activities, Brain Disorders, Pediatric, Genetics, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Good Health and Well Being, Humans, Fragile X Mental Retardation Protein, Phenotype, Biomarkers, RNA, Messenger, FMR1 mRNA, MMP9, FMRP, clinical trial, outcome measures
Time: 1920
File Description: application/pdf
Relation: qt4d26w28f; https://escholarship.org/uc/item/4d26w28f
Availability: https://escholarship.org/uc/item/4d26w28f
Authors: Shields, Rebecca H, Kaat, Aaron, Sansone, Stephanie M, Michalak, Claire, Coleman, Jeanine, Thompson, Talia, McKenzie, Forrest J, Dakopolos, Andrew, Riley, Karen, Berry-Kravis, Elizabeth, Widaman, Keith F, Gershon, Richard C, Hessl, David
Superior Title: Neurology, vol 100, iss 8
Subject Terms: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Pediatric, Intellectual and Developmental Disabilities (IDD), Clinical Research, Behavioral and Social Science, Down Syndrome, Rare Diseases, Brain Disorders, Fragile X Syndrome, Mental Health, Child, Adolescent, Humans, Adult, Young Adult, Developmental Disabilities, Reproducibility of Results, Cognition, Attention, Memory, Short-Term, Intellectual Disability, Neuropsychological Tests, Cognitive Sciences, Neurology & Neurosurgery
Subject Geographic: e778 - e789
File Description: application/pdf
Relation: qt2t6009z9; https://escholarship.org/uc/item/2t6009z9
Availability: https://escholarship.org/uc/item/2t6009z9
Authors: Shields, Rebecca H., Kaat, Aaron, Sansone, Stephanie M., Michalak, Claire, Coleman, Jeanine, Thompson, Talia, McKenzie, Forrest J., Dakopolos, Andrew, Riley, Karen, Berry-Kravis, Elizabeth, Widaman, Keith F., Gershon, Richard C., Hessl, David
Superior Title: Neurology ; volume 100, issue 8, page e778-e789 ; ISSN 0028-3878 1526-632X
Subject Terms: Neurology (clinical)
Availability: https://doi.org/10.1212/wnl.0000000000201528
Authors: Famula, JessicaAff1, Aff2, Ferrer, Emilio, Hagerman, Randi J.Aff1, Aff4, Tassone, FloraAff1, Aff5, Schneider, AndreaAff1, Aff4, Rivera, Susan M.Aff1, Aff3, Aff6, Hessl, DavidAff1, Aff2, IDs1168902209436y_cor7
Superior Title: Journal of Neurodevelopmental Disorders. 14(1)
Authors: Müller, Annelieke R., van Silfhout, Nadia Y., den Hollander, Bibiche, Kampman, Dick H. C., Bakkum, Lianne, Brands, Marion M. M. G., Haverman, Lotte, Terwee, Caroline B., Schuengel, Carlo, Daams, Joost, Hessl, David, Wijburg, Frits A., Boot, Erik, van Eeghen, Agnies M.
Subject Terms: Medicine
Availability:
https://doi.org/10.25384/sage.2569764010.1177/26330040241245721
https://sage.figshare.com/articles/dataset/sj-xlsx-2-trd-10_1177_26330040241245721_Supplemental_material_for_Navigating_the_outcome_maze_a_scoping_review_of_outcomes_and_instruments_in_clinical_trials_in_genetic_neurodevelopmental_disorders_and_intellectual_disability/25697640
Authors: McLennan, Yingratana A., Mosconi, Matthew W., McKenzie, Forrest J., Famula, Jessica, Krawchuk, Bennet, Kim, Kyoungmi, Clark, Courtney J., Hessl, David, Rivera, Susan M., Simon, Tony J., Tassone, Flora, Hagerman, Randi J.
Superior Title: Mov Disord Clin Pract
Subject Terms: Brief Reports
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9092736/; http://www.ncbi.nlm.nih.gov/pubmed/35586536; http://dx.doi.org/10.1002/mdc3.13449