Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Pamela P. McDonnell"'
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:
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:
Maimuna S. Paul, Sydney L. Michener, Hongling Pan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa C. Lerma, Alyssa Tran, Megan A. Longley, Richard A. Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Jessica L. Mester, Maria J. Guillen Sacoto, Richard Person, Pamela P. McDonnell, Stacey R. Cohen, Laina Lusk, Ana S.A. Cohen, Jean-Baptiste Le Pichon, Tomi Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sébastien Moutton, Anne-Sophie Denommé- Pichon, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E. Scheffer, Gemma L. Carvill, Heather Mefford, Undiagnosed Diseases Network, Carlos A. Bacino, Brendan H. Lee, Hsiao-Tuan Chao
Publikováno v:
medRxiv
PPFIA3encodes the Protein-Tyrosine Phosphatase, Receptor-Type, F Polypeptide-Interacting Protein Alpha-3 (PPFIA3), which is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family involved in synaptic vesicle transport an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9b9d27faee82a3f944077cb8451c280
https://europepmc.org/articles/PMC10081396/
https://europepmc.org/articles/PMC10081396/
Autor:
Baumgartner ME; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Atallah E; Department of Neurological Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania., Galligan K; Division of Neurosurgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., McDonnell P; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Kennedy BC; Division of Neurosurgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurosurgery, University of Pennsylvania, Philadelphia, Pennsylvania.
Publikováno v:
Journal of neurosurgery. Case lessons [J Neurosurg Case Lessons] 2024 Aug 26; Vol. 8 (9). Date of Electronic Publication: 2024 Aug 26 (Print Publication: 2024).