Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Kimberly Goods"'
Autor:
Ashlesha Gogate, Kiran Kaur, Raida Khalil, Mahmoud Bashtawi, Mary Ann Morris, Kimberly Goodspeed, Patricia Evans, Maria H. Chahrour
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-22 (2024)
Abstract Autism spectrum disorder (ASD) comprises neurodevelopmental disorders with wide variability in genetic causes and phenotypes, making it challenging to pinpoint causal genes. We performed whole exome sequencing on a modest, ancestrally divers
Externí odkaz:
https://doaj.org/article/c9a09becff734d7189a021190c6b41be
Autor:
Benedetta Kassabian, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Møller, Katrine M. Johannesen, Guido Rubboli
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Externí odkaz:
https://doaj.org/article/7533f9f845bf4c47b91866edd70387ed
Autor:
Kimberly Goodspeed, Daniel Horton, Andrea Lowden, Peter V. Sguigna, Timothy Booth, Zhiyue J. Wang, Veronica Bordes Edgar
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 425-433 (2022)
Abstract Aspartylglucosaminuria (AGU) is a rare lysosomal storage disorder that causes stagnation of development in adolescence and neurodegeneration in early adulthood. Precision therapies, including gene transfer therapy, are in development with a
Externí odkaz:
https://doaj.org/article/51d90e9cc24f421e9a38d66848bac1f3
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 11 (2023)
Abstract We aimed to characterize the clinical spectrum of patients diagnosed with SRD5A3-CDG, a subtype of congenital disorders of glycosylation (CDG) due to variants in the steroid 5a-reductase type 3 (SRD5A3) gene. It presents with multi-systemic
Externí odkaz:
https://doaj.org/article/d67f386963c2402db2a607af915ae0c6
Autor:
Benedetta Kassabian, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Møller, Katrine M. Johannesen, Guido Rubboli
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
IntroductionPhenotypic spectrum of SLC6A1-related neurodevelopmental disorders (SLC6A1-NDD) includes intellectual disability (ID), autistic spectrum disorders (ASD), epilepsy, developmental delay, beginning from early infancy or after seizure onset,
Externí odkaz:
https://doaj.org/article/b5e06920b7a34b5dbc7784d184b2df59
Autor:
Jennifer M. Bain, LeeAnne Green Snyder, Katherine L. Helbig, Dominique D. Cooper, Wendy K. Chung, Kimberly Goodspeed
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-8 (2022)
Abstract Background SLC6A1-related disorder is a recently identified, rare, genetic neurodevelopmental disorder that is associated with loss-of-function variants in SLC6A1. This gene encodes GABA transporter type I that is responsible for re-uptake o
Externí odkaz:
https://doaj.org/article/58ab5c3be7524a05999d9217d9d8fe04
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizure
Externí odkaz:
https://doaj.org/article/4c84a00e3d0a40de92de53945ad6ed8d
Autor:
Islam Oguz Tuncay, Nancy L. Parmalee, Raida Khalil, Kiran Kaur, Ashwani Kumar, Mohamed Jimale, Jennifer L. Howe, Kimberly Goodspeed, Patricia Evans, Loai Alzghoul, Chao Xing, Stephen W. Scherer, Maria H. Chahrour
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-13 (2022)
Abstract Autism spectrum disorder (ASD) is a collection of neurodevelopmental disorders characterized by deficits in social communication and restricted, repetitive patterns of behavior or interests. ASD is highly heritable, but genetically and pheno
Externí odkaz:
https://doaj.org/article/d6d434712fd840fda9626e03757e5a1f
Autor:
Sanjana Kalvakuntla, MinJae Lee, Wendy K. Chung, Scott Demarest, Amber Freed, Kyle J. Horning, Terry Jo Bichell, Susan T. Iannaccone, Kimberly Goodspeed
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
IntroductionSLC6A1-related disorder is a genetic neurodevelopmental disorder that is caused by loss of function variants in the SLC6A1 gene. Solute Carrier Family 6 Member 1 (SLC6A1) gene encodes for gamma-aminobutyric acid (GABA) transporter type 1
Externí odkaz:
https://doaj.org/article/5ddf0bcd9f754f219dbeedef88f64c30
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100441- (2023)
Externí odkaz:
https://doaj.org/article/e09fc8760435488ca2d783cac13b9ee4