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1.

Admixture mapping reveals evidence of differential multiple sclerosis risk by genetic ancestry.

Chi, Calvin; Shao, Xiaorong; Rhead, Brooke; Gonzales, Edlin; Smith, Jessica B; Xiang, Anny H; Graves, Jennifer; Waldman, Amy; Lotze, Timothy; Schreiner, Teri; Weinstock-Guttman, Bianca; Aaen, Gregory; Tillema, Jan-Mendelt; Ness, Jayne; Candee, Meghan; Krupp, Lauren; Gorman, Mark; Benson, Leslie; Chitnis, Tanuja; Mar, Soe; Belman, Anita; Casper, Theron Charles; Rose, John; Moodley, Manikum; Rensel, Mary; Rodriguez, Moses; Greenberg, Benjamin; Kahn, Llana; Rubin, Jennifer; Schaefer, Catherine; Waubant, Emmanuelle; Langer-Gould, Annette; Barcellos, Lisa F.

PLoS Genet; 15(1): e1007808, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-30653506

2.

Real-World Effectiveness of Initial Disease-Modifying Therapies in Pediatric Multiple Sclerosis.

Krysko, Kristen M; Graves, Jennifer S; Rensel, Mary; Weinstock-Guttman, Bianca; Rutatangwa, Alice; Aaen, Gregory; Belman, Anita; Benson, Leslie; Chitnis, Tanuja; Gorman, Mark; Goyal, Manu S; Harris, Yolanda; Krupp, Lauren; Lotze, Timothy; Mar, Soe; Moodley, Manikum; Ness, Jayne; Rodriguez, Moses; Rose, John; Schreiner, Teri; Tillema, Jan-Mendelt; Waltz, Michael; Casper, T Charles; Waubant, Emmanuelle.

Ann Neurol; 88(1): 42-55, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-32267005

3.

Improved relapse recovery in paediatric compared to adult multiple sclerosis.

Chitnis, Tanuja; Aaen, Greg; Belman, Anita; Benson, Leslie; Gorman, Mark; Goyal, Manu S; Graves, Jennifer S; Harris, Yolanda; Krupp, Lauren; Lotze, Timothy; Mar, Soe; Ness, Jayne; Rensel, Mary; Schreiner, Teri; Tillema, Jan-Mendelt; Waubant, Emmanuelle; Weinstock-Guttman, Bianca; Roalstad, Shelly; Rose, John; Weiner, Howard L; Casper, T Charles; Rodriguez, Moses.

Brain; 143(9): 2733-2741, 2020 Sep 01.

Artículo en Inglés | MEDLINE | ID: mdl-32810215

4.

GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.

Markovitz, Rebecca; Ghosh, Rajarshi; Kuo, Molly E; Hong, William; Lim, Jaehyung; Bernes, Saunder; Manberg, Stephanie; Crosby, Kathleen; Tanpaiboon, Pranoot; Bharucha-Goebel, Diana; Bonnemann, Carsten; Mohila, Carrie A; Mizerik, Elizabeth; Woodbury, Suzanne; Bi, Weimin; Lotze, Timothy; Antonellis, Anthony; Xiao, Rui; Potocki, Lorraine.

Am J Med Genet A; 182(5): 1167-1176, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-32181591

5.

Vitamin D genes influence MS relapses in children.

Graves, Jennifer S; Barcellos, Lisa F; Krupp, Lauren; Belman, Anita; Shao, Xiaorong; Quach, Hong; Hart, Janace; Chitnis, Tanuja; Weinstock-Guttman, Bianca; Aaen, Gregory; Benson, Leslie; Gorman, Mark; Greenberg, Benjamin; Lotze, Timothy; Soe, Mar; Ness, Jayne; Rodriguez, Moses; Rose, John; Schreiner, Teri; Tillema, Jan-Mendelt; Waldman, Amy; Casper, T Charles; Waubant, Emmanuelle.

Mult Scler; 26(8): 894-901, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-31081484

6.

Cognitive processing speed in pediatric-onset multiple sclerosis: Baseline characteristics of impairment and prediction of decline.

Wallach, Asya I; Waltz, Michael; Casper, T Charles; Aaen, Gregory; Belman, Anita; Benson, Leslie; Chitnis, Tanuja; Gorman, Mark; Graves, Jennifer; Harris, Yolanda; Lotze, Timothy E; Mar, Soe; Moodley, Manikum; Ness, Jayne M; Rensel, Mary; Rodriguez, Moses; Rose, John W; Schreiner, Teri; Tillema, Jan-Mendelt; Waubant, Emmanuelle; Weinstock-Guttman, Bianca; Charvet, Leigh E; Krupp, Lauren B.

Mult Scler; 26(14): 1938-1947, 2020 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-31775571

7.

Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.

Herman, Isabella; Lopez, Michael A; Marafi, Dana; Pehlivan, Davut; Calame, Daniel G; Abid, Farida; Lotze, Timothy E.

Muscle Nerve; 2020 Nov 04.

Artículo en Inglés | MEDLINE | ID: mdl-33146414

8.

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Luo, Xi; Rosenfeld, Jill A; Yamamoto, Shinya; Harel, Tamar; Zuo, Zhongyuan; Hall, Melissa; Wierenga, Klaas J; Pastore, Matthew T; Bartholomew, Dennis; Delgado, Mauricio R; Rotenberg, Joshua; Lewis, Richard Alan; Emrick, Lisa; Bacino, Carlos A; Eldomery, Mohammad K; Coban Akdemir, Zeynep; Xia, Fan; Yang, Yaping; Lalani, Seema R; Lotze, Timothy; Lupski, James R; Lee, Brendan; Bellen, Hugo J; Wangler, Michael F.

PLoS Genet; 13(7): e1006905, 2017 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-28742085

9.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Lalani, Seema R; Liu, Pengfei; Rosenfeld, Jill A; Watkin, Levi B; Chiang, Theodore; Leduc, Magalie S; Zhu, Wenmiao; Ding, Yan; Pan, Shujuan; Vetrini, Francesco; Miyake, Christina Y; Shinawi, Marwan; Gambin, Tomasz; Eldomery, Mohammad K; Akdemir, Zeynep Hande Coban; Emrick, Lisa; Wilnai, Yael; Schelley, Susan; Koenig, Mary Kay; Memon, Nada; Farach, Laura S; Coe, Bradley P; Azamian, Mahshid; Hernandez, Patricia; Zapata, Gladys; Jhangiani, Shalini N; Muzny, Donna M; Lotze, Timothy; Clark, Gary; Wilfong, Angus; Northrup, Hope; Adesina, Adekunle; Bacino, Carlos A; Scaglia, Fernando; Bonnen, Penelope E; Crosson, Jane; Duis, Jessica; Maegawa, Gustavo H B; Coman, David; Inwood, Anita; McGill, Jim; Boerwinkle, Eric; Graham, Brett; Beaudet, Art; Eng, Christine M; Hanchard, Neil A; Xia, Fan; Orange, Jordan S; Gibbs, Richard A; Lupski, James R.

Am J Hum Genet; 98(2): 347-57, 2016 Feb 04.

Artículo en Inglés | MEDLINE | ID: mdl-26805781

10.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Gu, Shen; Coban-Akdemir, Zeynep; Eldomery, Mohammad K; Posey, Jennifer E; Jhangiani, Shalini N; Rosenfeld, Jill A; Cho, Megan T; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A; Smith, Joshua D; McLaughlin, Heather M; Eng, Christine M; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M; Lotze, Timothy E; Boerwinkle, Eric; Gibbs, Richard A; Hickey, Scott E; Graham, Brett H; Yang, Yaping; Buhas, Daniela; Martin, Donna M; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J; Lupski, James R.

Am J Hum Genet; 99(4): 831-845, 2016 Oct 06.

Artículo en Inglés | MEDLINE | ID: mdl-27640307

11.

Ultrasound-guided cervical puncture for nusinersen administration in adolescents.

Ortiz, Carlos B; Kukreja, Kamlesh U; Lotze, Timothy E; Chau, Alex.

Pediatr Radiol; 49(1): 136-140, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-30167764

12.

Dietary factors and pediatric multiple sclerosis: A case-control study.

Pakpoor, Julia; Seminatore, Brandon; Graves, Jennifer S; Schreiner, Teri; Waldman, Amy T; Lotze, Timothy E; Belman, Anita; Greenberg, Benjamin M; Weinstock-Guttman, Bianca; Aaen, Gregory; Tillema, Jan-Mendelt; McDonald, Jamie C; Hart, Janace; Ness, Jayne M; Harris, Yolanda; Rubin, Jennifer; Candee, Meghan; Krupp, Lauren; Gorman, Mark; Benson, Leslie; Rodriguez, Moses; Chitnis, Tanuja; Mar, Soe; Kahn, Ilana; Rose, John; Carmichael, Suzan L; Roalstad, Shelly; Waltz, Michael; Casper, T Charles; Waubant, Emmanuelle.

Mult Scler; 24(8): 1067-1076, 2018 07.

Artículo en Inglés | MEDLINE | ID: mdl-28608728

13.

Genetic risk factors for pediatric-onset multiple sclerosis.

Gianfrancesco, Milena A; Stridh, Pernilla; Shao, Xiaorong; Rhead, Brooke; Graves, Jennifer S; Chitnis, Tanuja; Waldman, Amy; Lotze, Timothy; Schreiner, Teri; Belman, Anita; Greenberg, Benjamin; Weinstock-Guttman, Bianca; Aaen, Gregory; Tillema, Jan M; Hart, Janace; Caillier, Stacy; Ness, Jayne; Harris, Yolanda; Rubin, Jennifer; Candee, Meghan; Krupp, Lauren; Gorman, Mark; Benson, Leslie; Rodriguez, Moses; Mar, Soe; Kahn, Ilana; Rose, John; Roalstad, Shelly; Casper, T Charles; Shen, Ling; Quach, Hong; Quach, Diana; Hillert, Jan; Hedstrom, Anna; Olsson, Tomas; Kockum, Ingrid; Alfredsson, Lars; Schaefer, Catherine; Barcellos, Lisa F; Waubant, Emmanuelle.

Mult Scler; 24(14): 1825-1834, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-28980494

14.

Health-Related Quality of Life in Pediatric Patients With Demyelinating Diseases: Relevance of Disability, Relapsing Presentation, and Fatigue.

Self, Mariella M; Fobian, Aaron; Cutitta, Katherine; Wallace, Arianne; Lotze, Timothy E.

J Pediatr Psychol; 43(2): 133-142, 2018 03 01.

Artículo en Inglés | MEDLINE | ID: mdl-29049805

15.

Correction to: Impact of an electronic monitoring device and behavioural feedback on adherence to multiple sclerosis therapies in youth: results of a randomized trial.

Yeh, E Ann; Grover, Stephanie A; Powell, Victoria E; Alper, Gulay; Banwell, Brenda L; Edwards, Kim; Gorman, Mark; Graves, Jennifer; Lotze, Timothy E; Mah, Jean K; Mednick, Lauren; Ness, Jayne; Obadia, Maya; Slater, Ruth; Waldman, Amy; Waubant, Emmanuelle; Schwartz, Carolyn E.

Qual Life Res; 27(4): 1117, 2018 04.

Artículo en Inglés | MEDLINE | ID: mdl-29274015

16.

Identifying Opportunities to Provide Family-centered Care for Families With Children With Type 1 Spinal Muscular Atrophy.

Murrell, Diane V; Crawford, Claire A; Jackson, Chanti T; Lotze, Timothy E; Wiemann, Constance M.

J Pediatr Nurs; 43: 111-119, 2018.

Artículo en Inglés | MEDLINE | ID: mdl-30266528

17.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Lalani, Seema R; Zhang, Jing; Schaaf, Christian P; Brown, Chester W; Magoulas, Pilar; Tsai, Anne Chun-Hui; El-Gharbawy, Areeg; Wierenga, Klaas J; Bartholomew, Dennis; Fong, Chin-To; Barbaro-Dieber, Tina; Kukolich, Mary K; Burrage, Lindsay C; Austin, Elise; Keller, Kory; Pastore, Matthew; Fernandez, Fabio; Lotze, Timothy; Wilfong, Angus; Purcarin, Gabriela; Zhu, Wenmiao; Craigen, William J; McGuire, Marianne; Jain, Mahim; Cooney, Erin; Azamian, Mahshid; Bainbridge, Matthew N; Muzny, Donna M; Boerwinkle, Eric; Person, Richard E; Niu, Zhiyv; Eng, Christine M; Lupski, James R; Gibbs, Richard A; Beaudet, Arthur L; Yang, Yaping; Wang, Meng C; Xia, Fan.

Am J Hum Genet; 95(5): 579-83, 2014 Nov 06.

Artículo en Inglés | MEDLINE | ID: mdl-25439098

18.

Lung Transplantation for FLNA-Associated Progressive Lung Disease.

Burrage, Lindsay C; Guillerman, R Paul; Das, Shailendra; Singh, Shipra; Schady, Deborah A; Morris, Shaine A; Walkiewicz, Magdalena; Schecter, Marc G; Heinle, Jeffrey S; Lotze, Timothy E; Lalani, Seema R; Mallory, George B.

J Pediatr; 186: 118-123.e6, 2017 07.

Artículo en Inglés | MEDLINE | ID: mdl-28457522

19.

Impact of an electronic monitoring device and behavioral feedback on adherence to multiple sclerosis therapies in youth: results of a randomized trial.

Yeh, E Ann; Grover, Stephanie A; Powell, Victoria E; Alper, Gulay; Banwell, Brenda L; Edwards, Kim; Gorman, Mark; Graves, Jennifer; Lotze, Timothy E; Mah, Jean K; Mednick, Lauren; Ness, Jayne; Obadia, Maya; Slater, Ruth; Waldman, Amy; Waubant, Emmanuelle; Schwartz, Carolyn E.

Qual Life Res; 26(9): 2333-2349, 2017 09.

Artículo en Inglés | MEDLINE | ID: mdl-28393317

20.

Utility of whole exome sequencing in evaluation of juvenile motor neuron disease.

Agarwal, Sonika; Potocki, Lorraine; Collier, Talia R; Woodbury, Suzanne L; Adesina, Adekunle M; Jones, Jeremy; Lotze, Timothy E.

Muscle Nerve; 53(4): 648-52, 2016 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-26788680

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