Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Alexandra L. Geffrey"'
Autor:
Edwina Abou Haidar, Shilpa Prabhakar, Pike See Cheah, Sevda Lule, Roberta L. Beauchamp, Akiko Yoshinaga, Alexandra L. Geffrey, Anat Stemmer-Rachamimov, Vijaya Ramesh, Casey A. Maguire, Xandra O. Breakefield
Publikováno v:
Monday, April 24.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::75b7d8c4bfa2d56234b2613b7abcddae
https://doi.org/10.1212/wnl.0000000000202663
https://doi.org/10.1212/wnl.0000000000202663
Autor:
S. H. Greenstein, Deborah K. VanderVeen, Mary E. Aronow, Stefanie L. Davidson, E. Abati, Alexandra L. Geffrey, Elizabeth A. Thiele, M. P. McGarrey, Richard Levy, Kennedy R. Geenen
Publikováno v:
Ophthalmic Genetics. 41:345-349
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas occurring in multiple organ systems including the brain, kidneys, heart, lungs, liver, skin, and the eyes. Typical retinal findings associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6df147cdad27c724e6f1b0b67ed416a
https://doi.org/10.1080/13816810.2020.1755989
https://doi.org/10.1080/13816810.2020.1755989
Autor:
Alexandra L. Geffrey, Patricia L. Bruno, James R. Barnett, Aline Herlopian, Jo Sourbron, Lauren A. Skirvin, Sarah F. Pollack, Evan J. Hess, Elizabeth A. Thiele
Publikováno v:
Epilepsybehavior : EB. 106
Objective This study aimed to evaluate clinical efficacy and safety of purified pharmaceutical cannabidiol (CBD) as an adjunctive therapy in refractory childhood-onset epileptic spasms (ES). Methods Nine patients with ES were enrolled in an Instituti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b17d7efd19868414187c3a01432aa758
https://pubmed.ncbi.nlm.nih.gov/32169600
https://pubmed.ncbi.nlm.nih.gov/32169600
Autor:
Elizabeth A. Thiele, Jan L. Paolini, Kirsten A. Moody, Evan J. Hess, Alexandra L. Geffrey, Sarah F. Pollack, Patricia L. Bruno, Lauren A. Skirvin
Publikováno v:
Epilepsia. 57:1617-1624
SummaryObjective Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder with highly variable expression. The most common neurologic manifestation of TSC is epilepsy, which affects approximately 85% of patients, 63% of whom develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ffbe932b0f8d8224fc0bc2d600048b39
https://doi.org/10.1111/epi.13499
https://doi.org/10.1111/epi.13499
Publikováno v:
Epilepsy Research. 112:72-75
Lacosamide (LCS) was approved by the United States Food and Drug Administration (FDA) in 2008 as adjunctive therapy to other anti-epileptic drugs (AEDs) to treat focal-onset seizures, with or without secondary generalization. Its role in the treatmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdacd2fd6ffb25c9de3f9b91697eb253
https://doi.org/10.1016/j.eplepsyres.2015.02.008
https://doi.org/10.1016/j.eplepsyres.2015.02.008
Autor:
Alexandra L. Geffrey, Elizabeth A. Thiele, Susana Boronat, Ignasi Barber, Patrick Li, Brian E. Grottkau
Publikováno v:
American Journal of Medical Genetics Part A. 167:2755-2757
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas in multiple organ systems, primarily the skin, brain, heart, kidneys, lungs, and eyes. The skeletal system is commonly affected in patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0044d7c5ec681589144c226f190450d
https://doi.org/10.1002/ajmg.a.37235
https://doi.org/10.1002/ajmg.a.37235
Autor:
Christina J. Anagnos, Alexandra L. Geffrey, Elizabeth A. Thiele, Robin C. C. Ryther, Patricia L. Bruno, Melanie Jennesson, Ronald L. Thibert, Ali Shoeb, Anna M. Larson
Publikováno v:
Epilepsia. 53:1162-1169
Summary Purpose: Disrupted sleep patterns in children with epilepsy and their parents are commonly described clinically. A number of studies have shown increased frequency of sleep disorders among pediatric epilepsy patients; however, few have charac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d104dd8d0caa35f95be8ec589334677
https://doi.org/10.1111/j.1528-1167.2012.03515.x
https://doi.org/10.1111/j.1528-1167.2012.03515.x
Publikováno v:
American journal of medical genetics. Part A. (9)
Primary intestinal lymphangiectasia (PIL) is a rare protein-losing enteropathy characterized by a congenital malformation of the lymphatic vessels of the small intestine causing insufficient drainage and leakage of lymph fluid. Tuberous sclerosis com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::534bc6f9a973c7659e02648a698b999e
https://pubmed.ncbi.nlm.nih.gov/25943403
https://pubmed.ncbi.nlm.nih.gov/25943403
Autor:
Susana Boronat, Alexandra L. Geffrey, Elizabeth A. Thiele, Julianna E. Shinnick, Brigid A. Staley
Publikováno v:
American journal of medical genetics. Part A. (6)
Congenital lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e452a2734a1c1afca24c03aa3598ed24
https://pubmed.ncbi.nlm.nih.gov/24668795
https://pubmed.ncbi.nlm.nih.gov/24668795
Autor:
Anna M, Larson, Robin C C, Ryther, Melanie, Jennesson, Alexandra L, Geffrey, Patricia L, Bruno, Christina J, Anagnos, Ali H, Shoeb, Ronald L, Thibert, Elizabeth A, Thiele
Publikováno v:
Epilepsia. 53(7)
Disrupted sleep patterns in children with epilepsy and their parents are commonly described clinically. A number of studies have shown increased frequency of sleep disorders among pediatric epilepsy patients; however, few have characterized the assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3c8d262693aaa64ef097a8e1f8ddb523
https://pubmed.ncbi.nlm.nih.gov/22594377
https://pubmed.ncbi.nlm.nih.gov/22594377