A Case Report of Topiramate for Severe Breath Holding Spells in a Teenage Boy with Pitt-Hopkins Syndrome

por Bone, Megan, Goodspeed, Kimberly
Publicado 2022

Bringing everyone to the table – findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference

por Goodspeed, Kimberly, Bliss, Geraldine, Linnehan, Diane
Publicado 2020

A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management

por Khan, Tuba Rashid, Dolce, Alison, Goodspeed, Kimberly
Publicado 2022

424 Clinical Translational Approach to Targeted Therapy in SLC6A1-related Neurodevelopmental Disorder

por Goodspeed, Kimberly, Sirsi, Deepa, Gray, Steven, Rioux, Matthew, Guo, WeiRui, Iannaccone, Susan
Publicado 2023

Electroencephalographic (EEG) Biomarkers in Genetic Neurodevelopmental Disorders

por Goodspeed, Kimberly, Armstrong, Dallas, Dolce, Alison, Evans, Patricia, Said, Rana, Tsai, Peter, Sirsi, Deepa
Publicado 2023

Optical coherence tomography features in brothers with aspartylglucosaminuria

por Goodspeed, Kimberly, Harder, Lana, Hughes, Samuel, Conger, Darrel, Taravella, Julia, Gray, Steven J, Minassian, Berge
Publicado 2018

A cross‐sectional natural history study of aspartylglucosaminuria

por Goodspeed, Kimberly, Horton, Daniel, Lowden, Andrea, Sguigna, Peter V., Booth, Timothy, Wang, Zhiyue J., Edgar, Veronica Bordes
Publicado 2022

Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications

por Bain, Jennifer M., Snyder, LeeAnne Green, Helbig, Katherine L., Cooper, Dominique D., Chung, Wendy K., Goodspeed, Kimberly
Publicado 2022

Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies

por Goodspeed, Kimberly, Bailey, Rachel M., Prasad, Suyash, Sadhu, Chanchal, Cardenas, Jessica A., Holmay, Mary, Bilder, Deborah A., Minassian, Berge A.
Publicado 2022

The genetics of autism spectrum disorder in an East African familial cohort

por Tuncay, Islam Oguz, DeVries, Darlene, Gogate, Ashlesha, Kaur, Kiran, Kumar, Ashwani, Xing, Chao, Goodspeed, Kimberly, Seyoum-Tesfa, Leah, Chahrour, Maria H.
Publicado 2023

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy

por Goodspeed, Kimberly, Liu, Judy S., Nye, Kimberly L., Prasad, Suyash, Sadhu, Chanchal, Tavakkoli, Fatemeh, Bilder, Deborah A., Minassian, Berge A., Bailey, Rachel M.
Publicado 2022

Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder

por Kalvakuntla, Sanjana, Lee, MinJae, Chung, Wendy K., Demarest, Scott, Freed, Amber, Horning, Kyle J., Bichell, Terry Jo, Iannaccone, Susan T., Goodspeed, Kimberly
Publicado 2023

A draft conceptual model of SLC6A1 neurodevelopmental disorder

por Goodspeed, Kimberly, Mosca, Lindsay R., Weitzel, Nicole C., Horning, Kyle, Simon, Elijah W., Pfalzer, Anna C., Xia, Maya, Langer, Katherine, Freed, Amber, Bone, Megan, Picone, Maria, Bichell, Terry Jo V.
Publicado 2023

Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants

por Tuncay, Islam Oguz, Parmalee, Nancy L., Khalil, Raida, Kaur, Kiran, Kumar, Ashwani, Jimale, Mohamed, Howe, Jennifer L., Goodspeed, Kimberly, Evans, Patricia, Alzghoul, Loai, Xing, Chao, Scherer, Stephen W., Chahrour, Maria H.
Publicado 2022

Current Clinical Applications of In Vivo Gene Therapy with AAVs

por Mendell, Jerry R., Al-Zaidy, Samiah A., Rodino-Klapac, Louise R., Goodspeed, Kimberly, Gray, Steven J., Kay, Christine N., Boye, Sanford L., Boye, Shannon E., George, Lindsey A., Salabarria, Stephanie, Corti, Manuela, Byrne, Barry J., Tremblay, Jacques P.
Publicado 2021

Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

por Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt-Mouravieva, Anja A., Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S., Johannesen, Katrine M., Rubboli, Guido
Publicado 2023

Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

por Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt-Mouravieva, Anja A., Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S., Johannesen, Katrine M., Rubboli, Guido
Publicado 2023

Current knowledge of SLC6A1-related neurodevelopmental disorders

por Goodspeed, Kimberly, Pérez-Palma, Eduardo, Iqbal, Sumaiya, Cooper, Dominique, Scimemi, Annalisa, Johannesen, Katrine M, Stefanski, Arthur, Demarest, Scott, Helbig, Katherine L, Kang, Jingqiong, Shaffo, Frances C, Prentice, Brandon, Brownstein, Catherine A, Lim, Byungchan, Helbig, Ingo, De Los Reyes, Emily, McKnight, Dianalee, Crunelli, Vincenzo, Campbell, Arthur J, Møller, Rikke S, Freed, Amber, Lal, Dennis
Publicado 2020

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

por Stefanski, Arthur, Pérez-Palma, Eduardo, Brünger, Tobias, Montanucci, Ludovica, Gati, Cornelius, Klöckner, Chiara, Johannesen, Katrine M, Goodspeed, Kimberly, Macnee, Marie, Deng, Alexander T, Aledo-Serrano, Ángel, Borovikov, Artem, Kava, Maina, Bouman, Arjan M, Hajianpour, M J, Pal, Deb K, Engelen, Marc, Hagebeuk, Eveline E O, Shinawi, Marwan, Heidlebaugh, Alexis R, Oetjens, Kathryn, Hoffman, Trevor L, Striano, Pasquale, Freed, Amanda S, Futtrup, Line, Balslev, Thomas, Abulí, Anna, Danvoye, Leslie, Lederer, Damien, Balci, Tugce, Nouri, Maryam Nabavi, Butler, Elizabeth, Drewes, Sarah, van Engelen, Kalene, Howell, Katherine B, Khoury, Jean, May, Patrick, Trinidad, Marena, Froelich, Steven, Lemke, Johannes R, Tiller, Jacob, Freed, Amber N, Kang, Jing-Qiong, Wuster, Arthur, Møller, Rikke S, Lal, Dennis
Publicado 2023