Zobrazeno 1 - 10
of 118
pro vyhledávání: '"Barry E. Kosofsky"'
Autor:
Fang Xu, Kaleb Yohay, Denesy Mancenido, Mark Souwedaine, Jason G. Mezey, Douglas Ballon, Bishnu P. De, Jonathan B. Rosenberg, Michael G. Kaplitt, Grace W. Mammen, Szilard Kiss, Stephen M. Kaminsky, Odelya E. Pagovich, Ronald G. Crystal, Bruce M. Greenwald, Barry E. Kosofsky, Stefan Worgall, Benjamin Van de Graaf, Robert J. Kaner, Dolan Sondhi, Jonathan P. Dyke, Linda Heier, Neil R. Hackett, Alvin Chen
Publikováno v:
Sci Transl Med
Late infantile Batten disease (CLN2 disease) is a rare, autosomal recessive, neurodegenerative lysosomal storage disease caused by mutations in the CLN2 gene encoding tripeptidyl peptidase 1 (TPP1). We tested intraparenchymal delivery of AAVrh.10hCLN
Autor:
Barry E. Kosofsky, Zachary M. Grinspan, Ryan J. Felling, Gabrielle deVeber, Réjean M. Guerriero, Ariel M. Lyons-Warren, Joshua L. Bonkowsky
Publikováno v:
Pediatric Neurology
Background The past decades have seen a transformational shift in the understanding and treatment for neurological diseases affecting infants and children. These advances have been driven in part by the pediatric neurology physician-scientist workfor
Autor:
Nga M Lau, Peter H R Green, Annette K Taylor, Dan Hellberg, Mary Ajamian, Caroline Z Tan, Barry E Kosofsky, Joseph J Higgins, Anjali M Rajadhyaksha, Armin Alaedini
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e66155 (2013)
Gastrointestinal symptoms are a common feature in children with autism, drawing attention to a potential association with celiac disease or gluten sensitivity. However, studies to date regarding the immune response to gluten in autism and its associa
Externí odkaz:
https://doaj.org/article/88d3a8162df14da0b574ea17bb9c0bb5
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e84165 (2013)
Prenatal cocaine exposure has been shown to alter cognitive processes of exposed individuals, presumed to be a result of long-lasting molecular alterations in the brain. In adult prenatal cocaine exposed (PCOC) mice we have identified a deficit in re
Externí odkaz:
https://doaj.org/article/ef6015cbb4c548f19ed38f55c6ef2dc3
Autor:
Elliott H. Sherr, Réjean M. Guerriero, Heather J. Fullerton, Erika F. Augustine, Bradley L. Schlaggar, Scott L. Pomeroy, Renée A. Shellhaas, Amy R. Brooks-Kayal, Janet S. Soul, Ryan J. Felling, Ariel M. Lyons-Warren, Patricia L. Musolino, Jong M. Rho, Steven Maricich, Hannah C. Glass, Alexander G. Bassuk, Alexander Rotenberg, Michael V. Johnston, Zachary M. Grinspan, Brenda E. Porter, Barry E. Kosofsky, Gabrielle deVeber, Joshua L. Bonkowsky
Publikováno v:
Pediatr Neurol
Background The year 2020 marked a fundamental shift in the pediatric neurology field. An impressive positive trajectory of advances in patient care and research faced sudden global disruptions by the coronavirus disease 2019 pandemic and by an intern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c81a7993c3ca556fb7eb43dc8e2b9014
https://europepmc.org/articles/PMC10256134/
https://europepmc.org/articles/PMC10256134/
Autor:
Jonathan P. Dyke, Barry E. Kosofsky, Dolan Sondhi, Douglas Ballon, Stephen M. Kaminsky, Miriam Sindelar, Ronald G. Crystal, Steven S. Gross, Ruba S. Deeb
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)
Scientific Reports
Scientific Reports
Late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a rare lysosomal storage disorder caused by a monogenetic deficiency of tripeptidyl peptidase-1 (TPP1). Despite knowledge that lipofuscin is the hallmark disease product, the relevant TP
Autor:
Temitayo Ajayi, Benjamin Van de Graaf, Ronald G. Crystal, Kaleb Yohay, Odelya E. Pagovich, Dolan Sondhi, Matthew Downs, Alessandro Simonati, David Jacoby, Peter Slasor, Susanne Lezius, Dirk Kilian, Angela Schulz, Miriam Nickel, Barry E. Kosofsky, Alfried Kohlschütter
Publikováno v:
The Lancet Child & Adolescent Health. 2:582-590
Summary Background Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, characterised by rapid psychomotor decline and epilepsy, is caused by deficiency of the lysosomal enzyme tripeptidyl peptidase 1. We aimed to analyse the characte
Autor:
Cali C M Callaway, Barry E. Kosofsky
Publikováno v:
Current opinion in neurology. 32(6)
Between 1.6 and 3.6 million concussions, or mild traumatic brain injuries (mTBI), occur each year, nearly half of which go unreported and untreated. Despite the high incidence, practitioners currently lack both objective gold-standard diagnostic tool
Autor:
James P. Holahan, Emily Forrest, Gail Ross, Moran Hausman-Kedem, Kaleb Yohay, Margaret H. Dennin, Barry E. Kosofsky, Kristen Bennett, Mary J. Ward, Reena Patel
Publikováno v:
Journal of psychopathology and behavioral assessment. 40(3)
To compare community diagnoses of Autism Spectrum Disorder (ASD) reported by parents to consensus diagnoses made using standardized tools plus clinical observation. 87 participants (85% male, average age 7.4 years), with reported community diagnosis