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1.

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.

Kishnani, Priya S; Kronn, David; Brassier, Anaïs; Broomfield, Alexander; Davison, James; Hahn, Si Houn; Kumada, Satoko; Labarthe, François; Ohki, Hirotaka; Pichard, Samia; Prakalapakorn, S Grace; Haack, Kristina An; Kittner, Barbara; Meng, Xianzhang; Sparks, Susan; Wilson, Catherine; Zaher, Atef; Chien, Yin-Hsiu.

Genet Med ; 25(2): 100328, 2023 02.

Artículo en Inglés | MEDLINE | ID: mdl-36542086

2.

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.

Byrne, Barry J; Colan, Steven D; Kishnani, Priya S; Foster, Meredith C; Sparks, Susan E; Gibson, James B; An Haack, Kristina; Stockton, David W; Peña, Loren D M; Hahn, Si Houn; Johnson, Judith; Tanpaiboon, Pranoot X; Leslie, Nancy D; Kronn, David; Hillman, Richard E; Wang, Raymond Y.

Cardiol Young ; 32(3): 364-373, 2022 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-34420548

3.

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Kishnani, Priya S; Gibson, James B; Gambello, Michael J; Hillman, Richard; Stockton, David W; Kronn, David; Leslie, Nancy D; Pena, Loren D M; Tanpaiboon, Pranoot; Day, John W; Wang, Raymond Y; Goldstein, Jennifer L; An Haack, Kristina; Sparks, Susan E; Zhao, Yang; Hahn, Si Houn.

Genet Med ; 21(11): 2543-2551, 2019 11.

Artículo en Inglés | MEDLINE | ID: mdl-31086307

4.

Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy.

Wu, Bo; Shah, Sapana N; Lu, Peijuan; Bollinger, Lauren E; Blaeser, Anthony; Sparks, Susan; Harper, Amy D; Lu, Qi L.

Am J Pathol ; 188(4): 1069-1080, 2018 04.

Artículo en Inglés | MEDLINE | ID: mdl-29571322

5.

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.

Hahn, Si Houn; Kronn, David; Leslie, Nancy D; Pena, Loren D M; Tanpaiboon, Pranoot; Gambello, Michael J; Gibson, James B; Hillman, Richard; Stockton, David W; Day, John W; Wang, Raymond Y; An Haack, Kristina; Shafi, Raheel; Sparks, Susan; Zhao, Yang; Wilson, Catherine; Kishnani, Priya S.

Genet Med ; 20(10): 1284-1294, 2018 10.

Artículo en Inglés | MEDLINE | ID: mdl-29565424

6.

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Wassif, Christopher A; Kratz, Lisa; Sparks, Susan E; Wheeler, Courtney; Bianconi, Simona; Gropman, Andrea; Calis, Karim A; Kelley, Richard I; Tierney, Elaine; Porter, Forbes D.

Genet Med ; 19(3): 297-305, 2017 03.

Artículo en Inglés | MEDLINE | ID: mdl-27513191

7.

Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of α-Dystroglycan in Mouse Model of Limb-Girdle Muscular Dystrophy with FKRPP448L Mutation.

Wu, Bo; Shah, Sapana N; Lu, Peijuan; Richardson, Stephanie M; Bollinger, Lauren E; Blaeser, Anthony; Madden, Kyle L; Sun, Yubo; Luckie, Taylor M; Cox, Michael D; Sparks, Susan; Harper, Amy D; Lu, Qi Long.

Am J Pathol ; 186(6): 1635-48, 2016 06.

Artículo en Inglés | MEDLINE | ID: mdl-27109613

8.

Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.

Lavigne, Jenifer; Sharr, Christianne; Elsharkawi, Ibrahim; Ozonoff, Al; Baumer, Nicole; Brasington, Campbell; Cannon, Sheila; Crissman, Blythe; Davidson, Emily; Florez, Jose C; Kishnani, Priya; Lombardo, Angela; Lyerly, Jordan; McDonough, Mary Ellen; Schwartz, Alison; Berrier, Kathryn; Sparks, Susan; Stock-Guild, Kara; Toler, Tomi L; Vellody, Kishore; Voelz, Lauren; Skotko, Brian G.

Am J Med Genet A ; 173(6): 1539-1545, 2017 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-28332275

9.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng, Bobby G; Shiryaev, Sergey A; Rymen, Daisy; Eklund, Erik A; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E; Alehan, Fusun; Midro, Alina T; Bamshad, Michael J; Barone, Rita; Berry, Gerard T; Brumbaugh, Jane E; Buckingham, Kati J; Clarkson, Katie; Cole, F Sessions; O'Connor, Shawn; Cooper, Gregory M; Van Coster, Rudy; Demmer, Laurie A; Diogo, Luisa; Fay, Alexander J; Ficicioglu, Can; Fiumara, Agata; Gahl, William A; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A; He, Miao; Jaeken, Jaak; James, Philip M; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J; Lachlan, Katherine; Lam, Christina; Yaplito-Lee, Joy; Nickerson, Deborah A; Peters, Heidi L; Race, Valerie; Régal, Luc; Rush, Jeffrey S; Rutledge, S Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E; Trapane, Pamela; Sanchez-Valle, Amarilis; Vilain, Eric.

Hum Mutat ; 37(7): 653-60, 2016 07.

Artículo en Inglés | MEDLINE | ID: mdl-26931382

10.

Detecting celiac disease in patients with Down syndrome.

Sharr, Christianne; Lavigne, Jenifer; Elsharkawi, Ibrahim M A; Ozonoff, Al; Baumer, Nicole; Brasington, Campbell; Cannon, Sheila; Crissman, Blythe; Davidson, Emily; Florez, Jose C; Kishnani, Priya; Lombardo, Angela; Lyerly, Jordan; McDonough, Mary Ellen; Schwartz, Alison; Berrier, Kathryn L; Sparks, Susan; Stock-Guild, Kara; Toler, Tomi L; Vellody, Kishore; Voelz, Lauren; Skotko, Brian G.

Am J Med Genet A ; 170(12): 3098-3105, 2016 12.

Artículo en Inglés | MEDLINE | ID: mdl-27605215

11.

National down syndrome patient database: Insights from the development of a multi-center registry study.

Lavigne, Jenifer; Sharr, Christianne; Ozonoff, Al; Prock, Lisa Albers; Baumer, Nicole; Brasington, Campbell; Cannon, Sheila; Crissman, Blythe; Davidson, Emily; Florez, Jose C; Kishnani, Priya; Lombardo, Angela; Lyerly, Jordan; McCannon, Jessica B; McDonough, Mary Ellen; Schwartz, Alison; Berrier, Kathryn L; Sparks, Susan; Stock-Guild, Kara; Toler, Tomi L; Vellody, Kishore; Voelz, Lauren; Skotko, Brian G.

Am J Med Genet A ; 167A(11): 2520-6, 2015 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-26249752

12.

The value of knowing: preferences for genetic testing to diagnose rare muscle diseases.

Mansfield, Carol; Boeri, Marco; Coulter, Josh; Baranowski, Eileen; Sparks, Susan; An Haack, Kristina; Hamed, Alaa.

Orphanet J Rare Dis ; 19(1): 173, 2024 Apr 22.

Artículo en Inglés | MEDLINE | ID: mdl-38649872

13.

Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.

Blaeser, Anthony; Keramaris, Elizabeth; Chan, Yiumo M; Sparks, Susan; Cowley, Dale; Xiao, Xiao; Lu, Qi Long.

Hum Genet ; 132(8): 923-34, 2013 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-23591631

14.

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.

Moore, Ursula R; Jacobs, Marni; Fernandez-Torron, Roberto; Jang, Jiji; James, Meredith K; Mayhew, Anna; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Cnaan, Avital; Carlier, Pierre G; Blamire, Andrew; Hilsden, Heather; Lochmüller, Hanns; Grieben, Ulrike; Spuler, Simone; Tesi Rocha, Carolina; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Diaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Straub, Volker.

J Neurol Neurosurg Psychiatry ; 89(11): 1224-1226, 2018 11.

Artículo en Inglés | MEDLINE | ID: mdl-29378789

15.

Update on newborn screening.

Sparks, Susan E.

N C Med J ; 74(6): 514-7, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-24316780

16.

Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study.

Dimachkie, Mazen M; Kishnani, Priya S; Ivanescu, Cristina; Flore, Giulio; Gwaltney, Chad; van der Beek, Nadine A M E; Hamed, Alaa; An Haack, Kristina; Pollissard, Laurence; Baranowski, Eileen; Sparks, Susan E; DasMahapatra, Pronabesh.

Neurol Clin Pract ; 13(5): e200181, 2023 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-37559825

17.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Stankiewicz, Pawel; Kulkarni, Shashikant; Dharmadhikari, Avinash V; Sampath, Srirangan; Bhatt, Samarth S; Shaikh, Tamim H; Xia, Zhilian; Pursley, Amber N; Cooper, M Lance; Shinawi, Marwan; Paciorkowski, Alex R; Grange, Dorothy K; Noetzel, Michael J; Saunders, Scott; Simons, Paul; Summar, Marshall; Lee, Brendan; Scaglia, Fernando; Fellmann, Florence; Martinet, Danielle; Beckmann, Jacques S; Asamoah, Alexander; Platky, Kathryn; Sparks, Susan; Martin, Ann S; Madan-Khetarpal, Suneeta; Hoover, Jacqueline; Medne, Livija; Bonnemann, Carsten G; Moeschler, John B; Vallee, Stephanie E; Parikh, Sumit; Irwin, Polly; Dalzell, Victoria P; Smith, Wendy E; Banks, Valerie C; Flannery, David B; Lovell, Carolyn M; Bellus, Gary A; Golden-Grant, Kathryn; Gorski, Jerome L; Kussmann, Jennifer L; McGregor, Tracy L; Hamid, Rizwan; Pfotenhauer, Jean; Ballif, Blake C; Shaw, Chad A; Kang, Sung-Hae L; Bacino, Carlos A; Patel, Ankita.

Hum Mutat ; 33(1): 165-79, 2012 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-21948486

18.

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.

Duong, Tina; Kishnani, Priya S; An Haack, Kristina; Foster, Meredith C; Gibson, James B; Wilson, Catherine; Hahn, Si Houn; Hillman, Richard; Kronn, David; Leslie, Nancy D; Peña, Loren D M; Sparks, Susan E; Stockton, David W; Tanpaiboon, Pranoot; Day, John W.

J Neuromuscul Dis ; 9(6): 713-730, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-36214004

19.

Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective.

Hamed, Alaa; An Haack, Kristina; Gwaltney, Chad; Baranowski, Eileen; Stewart, Andrew; Krupnick, Robert; Tyler, Margaret; Sparks, Susan; Paty, Jean.

Orphanet J Rare Dis ; 16(1): 428, 2021 10 12.

Artículo en Inglés | MEDLINE | ID: mdl-34641935

20.

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.

Bevilacqua, Jorge A; Guecaimburu Ehuletche, Maria Del Rosario; Perna, Abayuba; Dubrovsky, Alberto; Franca, Marcondes C; Vargas, Steven; Hegde, Madhuri; Claeys, Kristl G; Straub, Volker; Daba, Nadia; Faria, Roberta; Periquet, Magali; Sparks, Susan; Thibault, Nathan; Araujo, Roberto.

Orphanet J Rare Dis ; 15(1): 11, 2020 01 13.

Artículo en Inglés | MEDLINE | ID: mdl-31931849

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