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1.

Efficacy of cannabidiol in convulsive and nonconvulsive seizure types associated with treatment-resistant epilepsies in the Expanded Access Program.

Flamini, Robert J; Comi, Anne M; Bebin, E Martina; Chez, Michael G; Clark, Gary; Devinsky, Orrin; Hussain, Shaun A; Lyons, Paul D; Patel, Anup D; Rosengard, Jillian L; Sahebkar, Farhad; Segal, Eric; Seltzer, Laurie; Szaflarski, Jerzy P; Weinstock, Arie.

Epilepsia ; 64(8): e156-e163, 2023 08.

Artículo en Inglés | MEDLINE | ID: mdl-37243404

2.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

Kumble, Smitha; Levy, Amanda M; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane-Yeboa, Kwame; Benke, Paul J; Berger, Sara M; Bjerglund, Lise; Campos-Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S; Comi, Anne M; Curry, Cynthia; Damaj, Lena; Denommé-Pichon, Anne-Sophie; Emrick, Lisa; Faivre, Laurence; Fasano, Mary Beth; Fiévet, Alice; Finkel, Richard S; García-Miñaúr, Sixto; Gerard, Amanda; Gomez-Puertas, Paulino; Guillen Sacoto, Maria J; Hoffman, Trevor L; Howard, Lillian; Iglesias, Alejandro D; Izumi, Kosuke; Larson, Austin; Leiber, Anja; Lozano, Reymundo; Marcos-Alcalde, Iñigo; Mintz, Cassie S; Mullegama, Sureni V; Møller, Rikke S; Odent, Sylvie; Oppermann, Henry; Ostergaard, Elsebet; Pacio-Míguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Paulson, Anna M; Platzer, Konrad; Posey, Jennifer E; Potocki, Lorraine; Revah-Politi, Anya; Rio, Marlene; Ritter, Alyssa L; Robinson, Scott.

Hum Mutat ; 43(2): 266-282, 2022 02.

Artículo en Inglés | MEDLINE | ID: mdl-34859529

3.

Updates on Sturge-Weber Syndrome.

Yeom, SangEun; Comi, Anne M.

Stroke ; 53(12): 3769-3779, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-36263782

4.

Time to change our approach to presymptomatic treatment of Sturge-Weber syndrome.

Comi, Anne M.

Dev Med Child Neurol ; 2024 Jun 12.

Artículo en Inglés | MEDLINE | ID: mdl-38867441

5.

Long-term safety and treatment effects of cannabidiol in children and adults with treatment-resistant epilepsies: Expanded access program results.

Szaflarski, Jerzy P; Bebin, Elizabeth Martina; Comi, Anne M; Patel, Anup D; Joshi, Charuta; Checketts, Daniel; Beal, Jules C; Laux, Linda C; De Boer, Lisa M; Wong, Matthew H; Lopez, Merrick; Devinsky, Orrin; Lyons, Paul D; Zentil, Pilar Pichon; Wechsler, Robert.

Epilepsia ; 59(8): 1540-1548, 2018 08.

Artículo en Inglés | MEDLINE | ID: mdl-29998598

6.

Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome.

Dymerska, Malgorzata; Kirkorian, Anna Y; Offermann, Elizabeth A; Lin, Doris D; Comi, Anne M; Cohen, Bernard A.

J Pediatr ; 188: 205-209.e1, 2017 09.

Artículo en Inglés | MEDLINE | ID: mdl-28711177

7.

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Shirley, Matthew D; Tang, Hao; Gallione, Carol J; Baugher, Joseph D; Frelin, Laurence P; Cohen, Bernard; North, Paula E; Marchuk, Douglas A; Comi, Anne M; Pevsner, Jonathan.

N Engl J Med ; 368(21): 1971-9, 2013 May 23.

Artículo en Inglés | MEDLINE | ID: mdl-23656586

8.

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.

Scala, Marcello; Mojarrad, Majid; Riazuddin, Saima; Brigatti, Karlla W; Ammous, Zineb; Cohen, Julie S; Hosny, Heba; Usmani, Muhammad A; Shahzad, Mohsin; Riazuddin, Sheikh; Stanley, Valentina; Eslahi, Atiye; Person, Richard E; Elbendary, Hasnaa M; Comi, Anne M; Poskitt, Laura; Salpietro, Vincenzo; Genomics, Queen Square; Rosenfeld, Jill A; Williams, Katie B; Marafi, Dana; Xia, Fan; Biderman Waberski, Marta; Zaki, Maha S; Gleeson, Joseph; Puffenberger, Erik; Houlden, Henry; Maroofian, Reza.

Brain ; 143(4): e31, 2020 04 01.

Artículo en Inglés | MEDLINE | ID: mdl-32227164

9.

Gαq and hyper-phosphorylated ERK expression in Sturge-Weber syndrome leptomeningeal blood vessel endothelial cells.

Wellman, Rebecca J; Cho, Su Bin; Singh, Pratibha; Tune, Miriya; Pardo, Carlos A; Comi, Anne M.

Vasc Med ; 24(1): 72-75, 2019 02.

Artículo en Inglés | MEDLINE | ID: mdl-30112971

10.

Preliminary reliability and validity of a battery for assessing functional skills in children with Sturge-Weber syndrome.

Reidy, Teressa Garcia; Suskauer, Stacy J; Bachur, Cathy D; McCulloch, Charles E; Comi, Anne M.

Childs Nerv Syst ; 30(12): 2027-36, 2014 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-25344741

11.

Retrospective Analysis of Presymptomatic Treatment In Sturge-Weber Syndrome.

Valery, Chelsea B; Iannotti, Isabelle; Kossoff, Eric H; Zabel, Andrew; Cohen, Bernard; Ou, Yangming; Pinto, Anna; Comi, Anne M.

Ann Child Neurol Soc ; 2(1): 60-72, 2024 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-38745912

12.

Ischemia-induced neuroinflammation is associated with disrupted development of oligodendrocyte progenitors in a model of periventricular leukomalacia.

Falahati, Sina; Breu, Markus; Waickman, Adam T; Phillips, Andre W; Arauz, Edwin J; Snyder, Sophie; Porambo, Michael; Goeral, Katharina; Comi, Anne M; Wilson, Mary Ann; Johnston, Michael V; Fatemi, Ali.

Dev Neurosci ; 35(2-3): 182-96, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-23445614

13.

Urine vascular biomarkers in Sturge-Weber syndrome.

Sreenivasan, Aditya K; Bachur, Catherine D; Lanier, Kira E; Curatolo, Adam S; Connors, Susan M; Moses, Marsha A; Comi, Anne M.

Vasc Med ; 18(3): 122-8, 2013 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-23720035

14.

Cannabidiol Treatment for Neurological, Cognitive, and Psychiatric Symptoms in Sturge-Weber Syndrome.

Smegal, Lindsay F; Vedmurthy, Pooja; Ryan, Matthew; Eagen, Melissa; Andrejow, Nicole Whiston; Sweeney, Kristie; Reidy, Teressa Garcia; Yeom, SangEun; Lin, Doris D; Suskauer, Stacy J; Kalb, Luther G; Salpekar, Jay A; Zabel, T Andrew; Comi, Anne M.

Pediatr Neurol ; 139: 24-34, 2023 02.

Artículo en Inglés | MEDLINE | ID: mdl-36508880

15.

Study protocol: retrospectively mining multisite clinical data to presymptomatically predict seizure onset for individual patients with Sturge-Weber.

Vedmurthy, Pooja; Pinto, Anna L R; Lin, Doris D M; Comi, Anne M; Ou, Yangming.

BMJ Open ; 12(2): e053103, 2022 Feb 04.

Artículo en Inglés | MEDLINE | ID: mdl-35121603

16.

Reduction in school individualized education program (IEP) services during the COVID-19 pandemic.

Chen, Belinda; Rasmussen, Patrick; Legg, Mallory; Alexander, Nicole; Vedmurthy, Pooja; Asiedu, Akua; Bay, Mihee; Belcher, Harolyn; Burton, Vera Joanna; Conlon, Charles; Fine, Amena; Gill, Ryan; Lance, Eboni I; Lipkin, Paul; Wong, Joyce; Wilms Floet, Anna Maria; Doerrer, Sarah C; Glattfelder, Jennifer; Kordek, Amy; Pertman, Julie; Murray, Rachel; Zabel, T Andrew; Comi, Anne M; Leppert, Mary L.

Front Rehabil Sci ; 3: 962893, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-36225267

17.

Pandemic intake questionnaire to improve quality, effectiveness, and efficiency of outpatient neurologic and developmental care at the Kennedy Krieger institute during the COVID-19 pandemic.

Vedmurthy, Pooja; Murray, Connor; Chen, Belinda; Asiedu, Akua; Baranano, Kristin; Bay, Mihee; Belcher, Harolyn; Burton, Vera; Conlon, Charles; Fine, Amena; Gill, Ryan; Harris, Jacqueline; Hart, Khaylynn; Inches, Shannon; Johnson, Jennifer; Lance, Eboni; Lipkin, Paul H; Menon, Deepa U; McIntyre, Tiffany; Rajaprakash, Meghna; Recio, Albert; Singer, Harvey S; Smegal, Lindsay; Smith-Hicks, Constance L; Vernon, Hilary; Wilms Floet, Anna Maria; Wong, Joyce; Yelin, Karina; Leppert, Mary L O'Connor; Zabel, T Andrew; Comi, Anne M.

Front Rehabil Sci ; 3: 934558, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-36275920

18.

Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome.

Smegal, Lindsay F; Sebold, Alison J; Hammill, Adrienne M; Juhász, Csaba; Lo, Warren D; Miles, Daniel K; Wilfong, Angus A; Levin, Alex V; Fisher, Brian; Ball, Karen L; Pinto, Anna L; Comi, Anne M.

Pediatr Neurol ; 119: 3-10, 2021 06.

Artículo en Inglés | MEDLINE | ID: mdl-33813331

19.

Sirolimus Treatment in Sturge-Weber Syndrome.

Sebold, Alison J; Day, Alyssa M; Ewen, Joshua; Adamek, Jack; Byars, Anna; Cohen, Bernard; Kossoff, Eric H; Mizuno, Tomoyuki; Ryan, Matthew; Sievers, Jacqueline; Smegal, Lindsay; Suskauer, Stacy J; Thomas, Cameron; Vinks, Alexander; Zabel, T Andrew; Hammill, Adrienne M; Comi, Anne M.

Pediatr Neurol ; 115: 29-40, 2021 02.

Artículo en Inglés | MEDLINE | ID: mdl-33316689

20.

Quantitative EEG improves prediction of Sturge-Weber syndrome in infants with port-wine birthmark.

Gill, Ryan E; Tang, Bohao; Smegal, Lindsay; Adamek, Jack H; McAuliffe, Danielle; Lakshmanan, Balaji M; Srivastava, Siddharth; Quain, Angela M; Sebold, Alison J; Lin, Doris D M; Kossoff, Eric H; Caffo, Brian; Comi, Anne M; Ewen, Joshua B.

Clin Neurophysiol ; 132(10): 2440-2446, 2021 10.

Artículo en Inglés | MEDLINE | ID: mdl-34454271

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