Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Jamie K. Capal"'
Autor:
Petrus J. de Vries, Tosca-Marie Heunis, Stephanie Vanclooster, Nola Chambers, Stacey Bissell, Anna W. Byars, Jennifer Flinn, Tanjala T. Gipson, Agnies M. van Eeghen, Robert Waltereit, Jamie K. Capal, Sebastián Cukier, Peter E. Davis, Catherine Smith, J. Chris Kingswood, Eva Schoeters, Shoba Srivastava, Megumi Takei, Sugnet Gardner-Lubbe, Aubrey J. Kumm, Darcy A. Krueger, Mustafa Sahin, Liesbeth De Waele, Anna C. Jansen
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-20 (2023)
Abstract Background Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations for diagnosis and management have been established. TSC is, however, also associated with
Externí odkaz:
https://doaj.org/article/0f33b55db38e479d9f389a096963c78f
Autor:
Annelieke R. Müller, Michiel A. J. Luijten, Lotte Haverman, Wendela L. de Ranitz-Greven, Peter Janssens, André B. Rietman, Leontine W. ten Hoopen, Laura C. G. de Graaff, Marie-Claire de Wit, Anna C. Jansen, Tanjala Gipson, Jamie K. Capal, Petrus J. de Vries, Agnies M. van Eeghen
Publikováno v:
BMC Medicine, Vol 21, Iss 1, Pp 1-15 (2023)
Abstract Background Tuberous sclerosis complex (TSC) is a rare and complex genetic disorder, associated with tumor growth in various organ systems, epilepsy, and a range of neuropsychiatric manifestations including intellectual disability. With impro
Externí odkaz:
https://doaj.org/article/3108e33f8bbe45ac9d13900319306ed9
Autor:
Annelieke R. Müller, Michiel A. J. Luijten, Lotte Haverman, Wendela L. de Ranitz-Greven, Peter Janssens, André B. Rietman, Leontine W.ten Hoopen, Laura C. G. de Graaff, Marie-Claire de Wit, Anna C. Jansen, Tanjala Gipson, Jamie K. Capal, Petrus J. de Vries, Agnies M. van Eeghen
Publikováno v:
BMC Medicine, Vol 21, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/9fa5f01526794b97b7d76b4251b53f86
Autor:
Stephanie Vanclooster, Stacey Bissell, Agnies M. van Eeghen, Nola Chambers, Liesbeth De Waele, Anna W. Byars, Jamie K. Capal, Sebastián Cukier, Peter Davis, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, Tosca-Marie Heunis, Dena Hook, J. Christopher Kingswood, Darcy A. Krueger, Aubrey J. Kumm, Mustafa Sahin, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Robert Waltereit, Anna C. Jansen, Petrus J. de Vries
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-23 (2022)
Abstract Background Tuberous sclerosis complex (TSC)–associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND
Externí odkaz:
https://doaj.org/article/5465835e27fa45c8abe959798b7d6f7e
Autor:
Samuel Alperin, Darcy A. Krueger, David N. Franz, Karen D. Agricola, Gabrielle Stires, Paul S. Horn, Jamie K. Capal
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-12 (2021)
Abstract Background Tuberous Sclerosis Complex (TSC) is associated with a range of neuropsychiatric difficulties, appropriately termed TSC-Associated Neuropsychiatric Disorders (TAND). The objectives of the study were to analyze the rates of TAND sym
Externí odkaz:
https://doaj.org/article/e56c558eb14340bd97db2edf7a2559f7
Autor:
Tosca-Marie Heunis, Stacey Bissell, Anna W. Byars, Jamie K. Capal, Nola Chambers, Sebastián Cukier, Peter E. Davis, Liesbeth De Waele, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, J. Christopher Kingswood, Darcy A. Krueger, Aubrey J. Kumm, Mustafa Sahin, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Stephanie Vanclooster, Agnies M. van Eeghen, Robert Waltereit, Anna C. Jansen, Petrus J. de Vries
Publikováno v:
Frontiers in Psychiatry, Vol 13 (2022)
IntroductionTuberous Sclerosis Complex (TSC) is a multi-system genetic disorder with various TSC-Associated Neuropsychiatric Disorders (TAND) that significantly impact the mental health and wellbeing of individuals with TSC and their caregivers. TAND
Externí odkaz:
https://doaj.org/article/ad7165d64e9f4caaa2f571edb598a4ce
Autor:
Kate Mowrey, Hope Northrup, Peyton Rougeau, S. Shahrukh Hashmi, Darcy A. Krueger, Daniel Ebrahimi-Fakhari, Alexander J. Towbin, Andrew T. Trout, Jamie K. Capal, David Neal Franz, David Rodriguez-Buritica
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Tuberous sclerosis complex (TSC) is a genetic condition that causes benign tumors to grow in multiple organ systems. Nonfunctional pancreatic neuroendocrine tumors (PNETs) are a rare clinical feature of TSC with no specific guidelines out
Externí odkaz:
https://doaj.org/article/7e54f14f8031455fac2c2e372cf2a540
Autor:
Martina Bebin, Jamie K. Capal, Robin Kissinger, Donna S. Murray, Mustafa Sahin, Kristn Currans, Bridget Kent, Hope Northrup, Paul S. Horn, Deborah A. Pearson, Joyce Y. Wu, Darcy A. Krueger, Marian E. Williams
Publikováno v:
Ann Neurol
OBJECTIVE Tuberous sclerosis complex (TSC) is highly associated with autism spectrum disorder (ASD). Objectives of the study were to characterize autistic features in young children with TSC. METHODS Participants included 138 children followed from a
Autor:
Molly S. Griffith, Darcy A. Krueger, Hope Northrup, E. Martina Bebin, S Katie Z Ihnen, Joyce Y. Wu, Paul S. Horn, Jamie K. Capal, Mustafa Sahin
Publikováno v:
Pediatr Neurol
Background Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics col
Autor:
Joshua L. Bonkowsky, Stephanie Keller, Jamie K. Capal, Timothy Lotze, Renée A. Shellhaas, David K. Urion, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela E. Scheuerle, Joan M. Stoler
Publikováno v:
Pediatrics. 148
Leukodystrophies are a group of genetically determined disorders that affect development or maintenance of central nervous system myelin. Leukodystrophies have an incidence of at least 1 in 4700 live births and significant morbidity and elevated risk