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1.

Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community.

Eichten, Carly; Kuhl, Ashley; Baker, Mei; Kwon, Jennifer M; Seroogy, Christine M; Williams, Katie B.

J Genet Couns ; 2024 Jan 10.

Artículo en Inglés | MEDLINE | ID: mdl-38197741

2.

Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy.

Kichula, Elizabeth A; Proud, Crystal M; Farrar, Michelle A; Kwon, Jennifer M; Saito, Kayoko; Desguerre, Isabelle; McMillan, Hugh J.

Muscle Nerve ; 64(4): 413-427, 2021 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-34196026

3.

Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.

Kemper, Alex R; Brosco, Jeffrey; Comeau, Anne Marie; Green, Nancy S; Grosse, Scott D; Jones, Elizabeth; Kwon, Jennifer M; Lam, Wendy K K; Ojodu, Jelili; Prosser, Lisa A; Tanksley, Susan.

Genet Med ; 19(1): 121-126, 2017 01.

Artículo en Inglés | MEDLINE | ID: mdl-27337030

4.

Newborn screening for Krabbe disease in New York State: the first eight years' experience.

Orsini, Joseph J; Kay, Denise M; Saavedra-Matiz, Carlos A; Wenger, David A; Duffner, Patricia K; Erbe, Richard W; Biski, Chad; Martin, Monica; Krein, Lea M; Nichols, Matthew; Kurtzberg, Joanne; Escolar, Maria L; Adams, Darius J; Arnold, Georgianne L; Iglesias, Alejandro; Galvin-Parton, Patricia; Kronn, David F; Kwon, Jennifer M; Levy, Paul A; Pellegrino, Joan E; Shur, Natasha; Wasserstein, Melissa P; Caggana, Michele.

Genet Med ; 18(3): 239-48, 2016 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-26795590

5.

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.

Wasserstein, Melissa P; Andriola, Mary; Arnold, Georgianne; Aron, Alan; Duffner, Patricia; Erbe, Richard W; Escolar, Maria L; Estrella, Lissette; Galvin-Parton, Patricia; Iglesias, Alejandro; Kay, Denise M; Kronn, David F; Kurtzberg, Joanne; Kwon, Jennifer M; Langan, Thomas J; Levy, Paul A; Naidich, Thomas P; Orsini, Joseph J; Pellegrino, Joan E; Provenzale, James M; Wenger, David A; Caggana, Michele.

Genet Med ; 18(12): 1235-1243, 2016 12.

Artículo en Inglés | MEDLINE | ID: mdl-27171547

6.

Cystic fibrosis newborn screening: a model for neuromuscular disease screening?

Scully, Michele A; Farrell, Philip M; Ciafaloni, Emma; Griggs, Robert C; Kwon, Jennifer M.

Ann Neurol ; 77(2): 189-97, 2015 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-25425541

7.

Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal.

Kwon, Jennifer M; Abdel-Hamid, Hoda Z; Al-Zaidy, Samiah A; Mendell, Jerry R; Kennedy, Annie; Kinnett, Kathi; Cwik, Valerie A; Street, Natalie; Bolen, Julie; Day, John W; Connolly, Anne M.

Muscle Nerve ; 54(2): 186-91, 2016 08.

Artículo en Inglés | MEDLINE | ID: mdl-27170260

8.

Experience, knowledge, and opinions about childhood genetic testing in Batten disease.

Adams, Heather R; Rose, Katherine; Augustine, Erika F; Kwon, Jennifer M; deBlieck, Elisabeth A; Marshall, Frederick J; Vierhile, Amy; Mink, Jonathan W; Nance, Martha A.

Mol Genet Metab ; 111(2): 197-202, 2014 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-24246680

9.

Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.

Lietsch, Mei; Chan, Kee; Taylor, Jennifer; Lee, Bo Hoon; Ciafaloni, Emma; Kwon, Jennifer M; Waldrop, Megan A; Butterfield, Russell J; Rathore, Geetanjali; Veerapandiyan, Aravindhan; Kapil, Arya; Parsons, Julie A; Gibbons, Melissa; Brower, Amy.

Int J Neonatal Screen ; 10(2)2024 Apr 18.

Artículo en Inglés | MEDLINE | ID: mdl-38651399

10.

Females experience a more severe disease course in Batten disease.

Cialone, Jennifer; Adams, Heather; Augustine, Erika F; Marshall, Frederick J; Kwon, Jennifer M; Newhouse, Nicole; Vierhile, Amy; Levy, Erika; Dure, Leon S; Rose, Katherine R; Ramirez-Montealegre, Denia; de Blieck, Elisabeth A; Mink, Jonathan W.

J Inherit Metab Dis ; 35(3): 549-55, 2012 May.

Artículo en Inglés | MEDLINE | ID: mdl-22167274

11.

Autoimmune Encephalitis: Distinguishing Features and Specific Therapies.

Co, Dominic O; Kwon, Jennifer M.

Crit Care Clin ; 38(2): 393-412, 2022 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-35369953

12.

Newborn screening for spinal muscular atrophy: The Wisconsin first year experience.

Baker, Mei W; Mochal, Sean T; Dawe, Sandra J; Wiberley-Bradford, Amy E; Cogley, Michael F; Zeitler, Bethany R; Piro, Zachary D; Harmelink, Mathew M; Kwon, Jennifer M.

Neuromuscul Disord ; 32(2): 135-141, 2022 02.

Artículo en Inglés | MEDLINE | ID: mdl-35120759

13.

An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy.

Kwon, Jennifer M; Arya, Kapil; Kuntz, Nancy; Phan, Han C; Sieburg, Cory; Swoboda, Kathryn J; Veerapandiyan, Aravindhan; Assman, Beverly; Bader-Weder, Silvia; Dickendesher, Travis L; Hansen, Jennifer; Lin, Helen; Yan, Ying; Rao, Vamshi K.

Ann Clin Transl Neurol ; 9(6): 810-818, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35567422

14.

Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.

Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; Finkel, Richard S; Swoboda, Kathryn J; Kwon, Jennifer M; Zaidman, Craig M; Chiriboga, Claudia A; Iannaccone, Susan T; Krueger, Jena M; Parsons, Julie A; Shieh, Perry B; Kavanagh, Sarah; Tauscher-Wisniewski, Sitra; McGill, Bryan E; Macek, Thomas A.

Nat Med ; 28(7): 1381-1389, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35715566

15.

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.

Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; Finkel, Richard S; Swoboda, Kathryn J; Kwon, Jennifer M; Zaidman, Craig M; Chiriboga, Claudia A; Iannaccone, Susan T; Krueger, Jena M; Parsons, Julie A; Shieh, Perry B; Kavanagh, Sarah; Wigderson, Melissa; Tauscher-Wisniewski, Sitra; McGill, Bryan E; Macek, Thomas A.

Nat Med ; 28(7): 1390-1397, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35715567

16.

Religion and Newborn Screening.

Dees, Richard H; Kwon, Jennifer M.

Am J Bioeth ; 16(1): 20-1, 2016.

Artículo en Inglés | MEDLINE | ID: mdl-26734738

17.

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.

Day, John W; Finkel, Richard S; Chiriboga, Claudia A; Connolly, Anne M; Crawford, Thomas O; Darras, Basil T; Iannaccone, Susan T; Kuntz, Nancy L; Peña, Loren D M; Shieh, Perry B; Smith, Edward C; Kwon, Jennifer M; Zaidman, Craig M; Schultz, Meredith; Feltner, Douglas E; Tauscher-Wisniewski, Sitra; Ouyang, Haojun; Chand, Deepa H; Sproule, Douglas M; Macek, Thomas A; Mendell, Jerry R.

Lancet Neurol ; 20(4): 284-293, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33743238

18.

Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).

Adams, Heather R; Beck, Christopher A; Levy, Erika; Jordan, Rachel; Kwon, Jennifer M; Marshall, Frederick J; Vierhile, Amy; Augustine, Erika F; de Blieck, Elisabeth A; Pearce, David A; Mink, Jonathan W.

Dev Med Child Neurol ; 52(7): 637-43, 2010 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-20187884

19.

Newborn screening for Krabbe disease: the New York State model.

Duffner, Patricia K; Caggana, Michele; Orsini, Joseph J; Wenger, David A; Patterson, Marc C; Crosley, Carl J; Kurtzberg, Joanne; Arnold, Georgianne L; Escolar, Maria L; Adams, Darius J; Andriola, Mary R; Aron, Alan M; Ciafaloni, Emma; Djukic, Alexandra; Erbe, Richard W; Galvin-Parton, Patricia; Helton, Laura E; Kolodny, Edwin H; Kosofsky, Barry E; Kronn, David F; Kwon, Jennifer M; Levy, Paul A; Miller-Horn, Jill; Naidich, Thomas P; Pellegrino, Joan E; Provenzale, James M; Rothman, Stanley J; Wasserstein, Melissa P.

Pediatr Neurol ; 40(4): 245-52; discussion 253-5, 2009 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-19302934

20.

Spinal Muscular Atrophy: Past, Present, and Future.

Ross, Lainie Friedman; Kwon, Jennifer M.

Neoreviews ; 20(8): e437-e451, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-31371553

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