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SLC13A5 citrate transporter disorder epilepsy phenotype Ozlu, Can; Spelbrink, Emily M.; Brown, Tanya L.; Nye, Kimberly L.; Solidum, Rayan M.; Cooper, Sydney; Best, Carrie R.; Armstrong, Dallas; Liu, Judy; Goodspeed, Kimberly; Porter, Brenda E. Share Save
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Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder Ozlu, Can; Adams, Raegan M.; Solidum, Rayann M.; Cooper, Sydney; Best, Carrie R.; Elacio, Jennifer; Kavanaugh, Brian C.; Spelbrink, Emily M.; Brown, Tanya L.; Nye, Kimberly; Liu, Judy S.; Bailey, Rachel M.; Goodspeed, Kimberly; Porter, Brenda E. Share Save
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SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis Stefanski, Arthur; Perez-Palma, Eduardo; Bruenger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Kloeckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Angel; 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; Abuli, 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; Moller, Rikke S.; Lal, Dennis Share Save
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders (vol 17, 1219262, 2023) Kassabian, Benedetta; Fenger, Christina Duhring; Willems, Marjolaine; Aledo-Serrano, Angel; Linnankivi, Tarja; Mcdonnell, Pamela Pojomovsky; Lusk, Laina; Jepsen, Birgit Susanne; Bayat, Michael; Kattentidt-Mouravieva, Anja A.; Vidal, Anna Abuli; Valero-Lopez, Gabriel; Alarcon-Martinez, Helena; Goodspeed, Kimberly; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Moller, Rikke S.; Johannesen, Katrine M.; Rubboli, Guido Share Save
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Intrafamilial variability in SLC6A1-related neurodevelopmental disorders Kassabian, Benedetta; Fenger, Christina Duhring; Willems, Marjolaine; Aledo-Serrano, Angel; Linnankivi, Tarja; McDonnell, Pamela Pojomovsky; Lusk, Laina; Jepsen, Birgit Susanne; Bayat, Michael; Kattentidt, Anja; Vidal, Anna Abuli; Valero-Lopez, Gabriel; Alarcon-Martinez, Helena; Goodspeed, Kimberly; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Moller, Rikke S.; Johannesen, Katrine M.; Rubboli, Guido Share Save
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A draft conceptual model of SLC6A1 neurodevelopmental disorder 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. Share Save
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Current Clinical Applications of In Vivo Gene Therapy with AAVs 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. Share Save
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Current knowledge of SLC6A1-related neurodevelopmental disorders Goodspeed, Kimberly; Perez-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.; Moller, Rikke S.; Freed, Amber; Lal, Dennis Share Save
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