Zobrazeno 1 - 10
of 94
pro vyhledávání: '"E Martina Bebin"'
Autor:
Arie Weinstock, E. Martina Bebin, Daniel Checketts, Gary D. Clark, Jerzy P. Szaflarski, Laurie E. Seltzer, Elizabeth A. Thiele, Farhad Sahebkar
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1816-1825 (2024)
Abstract Objective The cannabidiol (CBD) Expanded Access Program provided compassionate access to CBD for patients with treatment‐resistant epilepsy, including tuberous sclerosis complex (TSC), at 35 US epilepsy centers. Here, we present the long
Externí odkaz:
https://doaj.org/article/81ba41887e4f4210b7ce35d0086506c8
Autor:
Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L. Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Undiagnosed Diseases Network, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E. Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L. Thompson, E. Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A. Silverman, Stephen C. Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, Hans-Jürgen Kreienkamp
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Members of the leucine rich repeat (LRR) and PDZ domain (LAP) protein family are essential for animal development and histogenesis. Densin-180, encoded by LRRC7, is the only LAP protein selectively expressed in neurons. Densin-180 is a posts
Externí odkaz:
https://doaj.org/article/fa7e561bde0647a3a38569265135f1c2
Autor:
John J Bissler, Norio Nonomura, Klemens Budde, Bernard A Zonnenberg, Michael Fischereder, Maurizio Voi, Anne-Laure Louveau, Fabian Herbst, E Martina Bebin, Paolo Curatolo, Andrea Zonta, Elena Belousova
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0201005 (2018)
INTRODUCTION:The EXIST-2 (NCT00790400) study demonstrated the superiority of everolimus over placebo for the treatment of renal angiomyolipomas associated with tuberous sclerosis complex (TSC) or sporadic lymphangioleiomyomatosis (LAM). This post hoc
Externí odkaz:
https://doaj.org/article/be8e75a4b29844edb0b037d267a772b4
Autor:
Jamie K. Capal, David M. Ritter, David Neal Franz, Molly Griffith, Kristn Currans, Bridget Kent, E. Martina Bebin, Hope Northrup, Mary Kay Koenig, Tomoyuki Mizuno, Alexander A. Vinks, Stephanie L. Galandi, Wujuan Zhang, Kenneth D.R. Setchell, Kelly M. Kremer, Carlos M. Prada, Hansel M. Greiner, Katherine Holland‐Bouley, Paul S. Horn, Darcy A. Krueger
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 2, Pp 106-119 (2024)
Abstract Objective Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to unde
Externí odkaz:
https://doaj.org/article/17fb7d1309944a378a54771f3b5d9cfb
Autor:
David N Franz, Elena Belousova, Steven Sparagana, E Martina Bebin, Michael D Frost, Rachel Kuperman, Olaf Witt, Michael H Kohrman, J Robert Flamini, Joyce Y Wu, Paolo Curatolo, Petrus J de Vries, Noah Berkowitz, Julie Niolat, Sergiusz Jóźwiak
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0158476 (2016)
Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has demonstrated efficacy in treating subependymal giant cell astrocytomas (SEGAs) and other manifestations of tuberous sclerosis complex (TSC). However, long-term use of mTOR inhibitors m
Externí odkaz:
https://doaj.org/article/0d43c4ebf88b4776a48a925dfda8ac2a
Publikováno v:
Epilepsia Open, Vol 8, Iss 4, Pp 1405-1412 (2023)
Abstract Objective The aim of this study was to assess potential drug–drug interactions between highly purified cannabidiol (CBD) and anti‐seizure medications (ASMs). Methods Our group previously reported that in a sample of adults and children r
Externí odkaz:
https://doaj.org/article/da9f296ceddc4a11be3ebf4090ffd23a
Autor:
Anna K. Prohl, Benoit Scherrer, Xavier Tomas-Fernandez, Peter E. Davis, Rajna Filip-Dhima, Sanjay P. Prabhu, Jurriaan M. Peters, E. Martina Bebin, Darcy A. Krueger, Hope Northrup, Joyce Y. Wu, Mustafa Sahin, Simon K. Warfield, on behalf of the TACERN Study Group
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-16 (2019)
Abstract Background Autism spectrum disorder (ASD) is prevalent in tuberous sclerosis complex (TSC), occurring in approximately 50% of patients, and is hypothesized to be caused by disruption of neural circuits early in life. Tubers, or benign hamart
Externí odkaz:
https://doaj.org/article/6eb2a9d3dc9d402682caa0776bb9eb4a
Autor:
Alexis Levine, Peter Davis, Bo Zhang, Jurriaan Peters, Rajna Filip-Dhima, Simon K. Warfield, Anna Prohl, Jamie Capal, Darcy Krueger, E. Martina Bebin, Hope Northrup, Joyce Y. Wu, Mustafa Sahin
Publikováno v:
Pediatric Neurology. 144:26-32
Autor:
Susan M. Hiatt, James M.J. Lawlor, Lori H. Handley, Ryne C. Ramaker, Brianne B. Rogers, E. Christopher Partridge, Lori Beth Boston, Melissa Williams, Christopher B. Plott, Jerry Jenkins, David E. Gray, James M. Holt, Kevin M. Bowling, E. Martina Bebin, Jane Grimwood, Jeremy Schmutz, Gregory M. Cooper
Publikováno v:
HGG Advances, Vol 2, Iss 2, Pp 100023- (2021)
Summary: Exome and genome sequencing have proven to be effective tools for the diagnosis of neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to currently detectable genetic variation. This is likely, at least in p
Externí odkaz:
https://doaj.org/article/9e89b02fe99e4ca599239301f8118f70
Autor:
Alexander L, Cohen, Mallory R, Kroeck, Juliana, Wall, Peter, McManus, Arina, Ovchinnikova, Mustafa, Sahin, Darcy A, Krueger, E Martina, Bebin, Hope, Northrup, Joyce Y, Wu, Simon K, Warfield, Jurriaan M, Peters, Michael D, Fox
Publikováno v:
Annals of Neurology. 93:577-590
Tuberous sclerosis complex (TSC) is associated with focal brain "tubers" and a high incidence of autism spectrum disorder (ASD). The location of brain tubers associated with autism may provide insight into the neuroanatomical substrate of ASD symptom