Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Joan, Jasien"'
Autor:
Jessica Sun, Laura Case, Colleen McLaughlin, Natalie Skergan, Joan Jasien, Mohamad Mikati, Jesse Troy, Joanne Kurtzberg
Publikováno v:
Stem Cells Translational Medicine, Vol 10, Iss S1, Pp S6-S6 (2021)
Externí odkaz:
https://doaj.org/article/c6fa94f1ade04758b8554be7fb9079dc
Autor:
Lauren E. Parker, Keri Wallace, Arthur Thevathasan, Emily Funk, Milton Pratt, Julie Thamby, Linh Tran, Lyndsey Prange, Julie Uchitel, April Boggs, Melissa Minton, Joan Jasien, Kanae Jennifer Nagao, Amanda Richards, Belinda Cruse, Guy De-Lisle Dear, Andrew P. Landstrom, Mohamad A. Mikati
Publikováno v:
European Journal of Paediatric Neurology. 38:47-52
Alternating hemiplegia of childhood (AHC) pathophysiology suggests predisposition to sedation and anesthesia complications.Hypotheses: 1) AHC patients experience high rates of sedation-anesthesia complications. 2) ATP1A3 mutation genotype positivity,
Autor:
Barbara Waters-Pick, Joanne Kurtzberg, Jessica Sun, Jesse D. Troy, Colleen McLaughlin, Gordon Worley, Joan Jasien, Mohamad A. Mikati, Laura E. Case
Publikováno v:
Stem Cells Translational Medicine, Vol 10, Iss 9, Pp 1258-1265 (2021)
Stem Cells Translational Medicine
Stem Cells Translational Medicine
Preclinical and early phase clinical studies suggest that an appropriately dosed umbilical cord blood (CB) infusion has the potential to help improve motor function in young children with cerebral palsy (CP). As many children with CP do not have thei
Publikováno v:
Developmental Neurorehabilitation. 24:569-582
Background: Though much research has been done on the cognitive profiles of children, the abilities of patients with SBM as they age into adulthood are not well understood.Objective: Determine if adults with SBM have impairments in overall cognition,
Autor:
Brian Chicoine, Stephanie L. Santoro, Joan Jasien, Judy Lu Kim, Peter Bulova, Mary M. Stephens, George T. Capone
Publikováno v:
American Journal of Medical Genetics Part A
Pneumonia and respiratory infections impact infants and children with Down syndrome; pneumonia is a leading cause of mortality in adults with Down syndrome. We aimed to review the literature to evaluate gaps and address key questions. A series of key
Autor:
Milton Pratt, Melanie J. Bonner, Julie Uchitel, Geraldine Dawson, April Boggs, Lyndsey Prange, Joan Jasien, Mohamad A. Mikati, Tavis Abrahamsen, Elie Abdelnour
Publikováno v:
Developmental Medicine & Child Neurology. 62:820-826
AIM To evaluate presence and severity of social impairments in alternating hemiplegia of childhood (AHC) and determine factors that are associated with social impairments. METHOD This was a retrospective analysis of 34 consecutive patients with AHC (
Autor:
Scott, Barish, Mumine, Senturk, Kelly, Schoch, Amanda L, Minogue, Diego, Lopergolo, Chiara, Fallerini, Jake, Harland, Jacob H, Seemann, Nicholas, Stong, Peter G, Kranz, Sujay, Kansagra, Mohamad A, Mikati, Joan, Jasien, Mays, El-Dairi, Paolo, Galluzzi, Francesca, Ariani, Alessandra, Renieri, Francesca, Mari, Michael F, Wangler, Swathi, Arur, Yong-Hui, Jiang, Shinya, Yamamoto, Vandana, Shashi, Stephan, Zuchner
Publikováno v:
Hum Mol Genet
DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. To date, DROSHA has not yet been associated with a Mendelian disease. Here, we describe two individuals wi
Publikováno v:
Journal of Primary Care & Community Health, Vol 6 (2015)
Background: Urban families face many challenges that affect life satisfaction, including low income, limited access to resources, and unstable neighborhoods. Purpose: To investigate life satisfaction and identify potential mediators: neighborhood sta
Externí odkaz:
https://doaj.org/article/0788513ef372490cbc73774d8f081f64
Autor:
Vandana Shashi, Yoonsung Lee, Aikaterini Kontrogianni‐Konstantopoulos, Youngha Lee, Yong Beom Shin, Janelle Geist, Jennifer A. Sullivan, Unbeom Shin, Nathan T. Wright, Nicholas Stong, Edward C. Smith, Murim Choi, Joan Jasien, Yongjin Yoo, Peter G. Kranz, Kelly Schoch
Publikováno v:
Hum Mutat
Encoding the slow skeletal muscle isoform of myosin binding protein-C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. The authors describe a novel association for MYBPC1 in four patients from three independent fam
Autor:
Milton Pratt, Julie Uchitel, Blaire Rikard, Linh Tran, Joan Jasien, Rosaria Vavassori, Carmen Fons, Elisa De Grandis, Keri Wallace, Alexis Arzimanoglou, Isabella Cocco, Erin L. Heinzen, Lyndsey Prange, Eleni Panagiotakaki, Maria T Papadopoulou, Mohamad A. Mikati, Laura Caligiuri, David Goldstein, Arsen S. Hunanyan, Rebecca Moré, Tavis Abrahamsen, Aikaterini Vezyroglou
Publikováno v:
Brain Communications
Alternating hemiplegia of childhood is a rare neurodevelopmental disorder caused by ATP1A3 mutations. Some evidence for disease progression exists, but there are few systematic analyses. Here, we evaluate alternating hemiplegia of childhood progressi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7032e328a3a3fec7aacc80bd733452
http://hdl.handle.net/11567/1076306
http://hdl.handle.net/11567/1076306