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1.

Targeted long-read sequencing identifies missing disease-causing variation.

Miller, Danny E; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M; Lewis, Alexandra P; Fuerte, Edith P Almanza; Paschal, Catherine R; Walsh, Tom; Thies, Jenny; Bennett, James T; Glass, Ian; Dipple, Katrina M; Patterson, Karynne; Bonkowski, Emily S; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J; Chow, Penny; Hing, Anne V; Wenger, Tara L; Adam, Margaret P; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K; Reddy, Timothy E; Majoros, William H; Allen, Andrew S; Crawford, Gregory E; Kishnani, Priya S; King, Mary-Claire; Cherry, Tim; Chong, Jessica X; Bamshad, Michael J; Nickerson, Deborah A; Mefford, Heather C; Doherty, Dan; Eichler, Evan E.

Am J Hum Genet; 108(8): 1436-1449, 2021 08 05.

Artículo en Inglés | MEDLINE | ID: mdl-34216551

2.

A population-based study of scoliosis among males diagnosed with a dystrophinopathy identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

Conway, Kristin M; Gedlinske, Amber; Mathews, Katherine D; Perlman, Seth; Johnson, Nicholas; Butterfield, Russell; Hung, Man; Bounsanga, Jerry; Matthews, Dennis; Oleszek, Joyce; Romitti, Paul A.

Muscle Nerve; 65(2): 193-202, 2022 02.

Artículo en Inglés | MEDLINE | ID: mdl-34787322

3.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Ferdinandusse, Sacha; McWalter, Kirsty; Te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M; Ruiter, Jos P N; van Lint, Alida E M; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L; Sell, Susan L; Nowak, Catherine B; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A; Macnamara, Ellen F; Wolfe, Lynne; Waisfisz, Quinten; Zwijnenburg, Petra J G; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C; van Kampen, Antoine H C; Wanders, Ronald J A; Waterham, Hans R; Cassiman, David; Vaz, Frédéric M.

Genet Med; 23(4): 740-750, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33239752

4.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A; Yuskaitis, Christopher J; Salussolia, Catherine L; Ebrahimi-Fakhari, Daniel; Pearson, Toni S; Saffari, Afshin; Ziegler, Andreas; Kölker, Stefan; Volkmann, Jens; Wiesener, Antje; Bearden, David R; Lakhani, Shenela; Segal, Devorah; Udwadia-Hegde, Anaita; Martinuzzi, Andrea; Hirst, Jennifer; Perlman, Seth; Takiyama, Yoshihisa; Xiromerisiou, Georgia; Vill, Katharina; Walker, William O; Shukla, Anju; Dubey Gupta, Rachana; Dahl, Niklas; Aksoy, Ayse; Verhelst, Helene; Delgado, Mauricio R; Kremlikova Pourova, Radka; Sadek, Abdelrahim A; Elkhateeb, Nour M; Blumkin, Lubov; Brea-Fernández, Alejandro J; Dacruz-Álvarez, David; Smol, Thomas; Ghoumid, Jamal; Miguel, Diego; Heine, Constanze.

Brain; 143(10): 2929-2944, 2020 10 01.

Artículo en Inglés | MEDLINE | ID: mdl-32979048

5.

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Ferdinandusse, Sacha; McWalter, Kirsty; Te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M; Ruiter, Jos P N; van Lint, Alida E M; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L; Sell, Susan L; Nowak, Catherine B; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A; Macnamara, Ellen F; Wolfe, Lynne; Waisfisz, Quinten; Zwijnenburg, Petra J G; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C; van Kampen, Antoine H C; Wanders, Ronald J A; Waterham, Hans R; Cassiman, David; Vaz, Frédéric M.

Genet Med; 23(12): 2467, 2021 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-34667295

6.

Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.

Dang, Utkarsh J; Damsker, Jesse M; Guglieri, Michela; Clemens, Paula R; Perlman, Seth J; Smith, Edward C; Horrocks, Iain; Finkel, Richard S; Mah, Jean K; Deconinck, Nicolas; Goemans, Nathalie M; Haberlová, Jana; Straub, Volker; Mengle-Gaw, Laurel; Schwartz, Benjamin D; Harper, Amy; Shieh, Perry B; De Waele, Liesbeth; Castro, Diana; Yang, Michele L; Ryan, Monique M; McDonald, Craig M; Tulinius, Mar; Webster, Richard I; Mcmillan, Hugh J; Kuntz, Nancy; Rao, Vamshi K; Baranello, Giovanni; Spinty, Stefan; Childs, Anne-Marie; Sbrocchi, Annie M; Selby, Kathryn A; Monduy, Migvis; Nevo, Yoram; Vilchez, Juan J; Nascimento-Osorio, Andres; Niks, Erik H; De Groot, Imelda J M; Katsalouli, Marina; Van Den Anker, John N; Ward, Leanne M; Leinonen, Mika; D'Alessandro, Andrea L; Hoffman, Eric P.

Neurology; 102(5): e208112, 2024 Mar 12.

Artículo en Inglés | MEDLINE | ID: mdl-38335499

7.

Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

Perlman, Seth J; Kulkarni, Shashikant; Manwaring, Linda; Shinawi, Marwan.

Am J Med Genet A; 161A(4): 711-6, 2013 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-23494996

8.

Leukodystrophies.

Perlman, Seth J; Mar, Soe.

Adv Exp Med Biol; 724: 154-71, 2012.

Artículo en Inglés | MEDLINE | ID: mdl-22411242

9.

Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

Guglieri, Michela; Clemens, Paula R; Perlman, Seth J; Smith, Edward C; Horrocks, Iain; Finkel, Richard S; Mah, Jean K; Deconinck, Nicolas; Goemans, Nathalie; Haberlova, Jana; Straub, Volker; Mengle-Gaw, Laurel J; Schwartz, Benjamin D; Harper, Amy D; Shieh, Perry B; De Waele, Liesbeth; Castro, Diana; Yang, Michelle L; Ryan, Monique M; McDonald, Craig M; Tulinius, Mar; Webster, Richard; McMillan, Hugh J; Kuntz, Nancy L; Rao, Vashmi K; Baranello, Giovanni; Spinty, Stefan; Childs, Anne-Marie; Sbrocchi, Annie M; Selby, Kathryn A; Monduy, Migvis; Nevo, Yoram; Vilchez-Padilla, Juan J; Nascimento-Osorio, Andres; Niks, Erik H; de Groot, Imelda J M; Katsalouli, Marina; James, Meredith K; van den Anker, Johannes; Damsker, Jesse M; Ahmet, Alexandra; Ward, Leanne M; Jaros, Mark; Shale, Phil; Dang, Utkarsh J; Hoffman, Eric P.

JAMA Neurol; 79(10): 1005-1014, 2022 10 01.

Artículo en Inglés | MEDLINE | ID: mdl-36036925

10.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Johnson, Janel O; Chia, Ruth; Miller, Danny E; Li, Rachel; Kumaran, Ravindran; Abramzon, Yevgeniya; Alahmady, Nada; Renton, Alan E; Topp, Simon D; Gibbs, J Raphael; Cookson, Mark R; Sabir, Marya S; Dalgard, Clifton L; Troakes, Claire; Jones, Ashley R; Shatunov, Aleksey; Iacoangeli, Alfredo; Al Khleifat, Ahmad; Ticozzi, Nicola; Silani, Vincenzo; Gellera, Cinzia; Blair, Ian P; Dobson-Stone, Carol; Kwok, John B; Bonkowski, Emily S; Palvadeau, Robin; Tienari, Pentti J; Morrison, Karen E; Shaw, Pamela J; Al-Chalabi, Ammar; Brown, Robert H; Calvo, Andrea; Mora, Gabriele; Al-Saif, Hind; Gotkine, Marc; Leigh, Fawn; Chang, Irene J; Perlman, Seth J; Glass, Ian; Scott, Anna I; Shaw, Christopher E; Basak, A Nazli; Landers, John E; Chiò, Adriano; Crawford, Thomas O; Smith, Bradley N; Traynor, Bryan J; Smith, Bradley N; Ticozzi, Nicola; Fallini, Claudia.

JAMA Neurol; 78(10): 1236-1248, 2021 10 01.

Artículo en Inglés | MEDLINE | ID: mdl-34459874

11.

Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).

Gonzalez-Perez, Paloma; Smith, Cheryl; Sebetka, Wendy L; Gedlinske, Amber; Perlman, Seth; Mathews, Katherine D.

Neuromuscul Disord; 30(3): 213-218, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-32115343

12.

Inpatient rehabilitation admission for a patient with spinal muscular atrophy status post gene therapy.

Omura, Jaclyn C; Freeman, Casey L; Perlman, Seth J; Fuentes, Molly M.

PM R; 15(10): 1361-1362, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-36655390

13.

Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup.

Segal, Michael M; Williams, Marc S; Gropman, Andrea L; Torres, Alcy R; Forsyth, Rob; Connolly, Anne M; El-Hattab, Ayman W; Perlman, Seth J; Samanta, Debopam; Parikh, Sumit; Pavlakis, Steven G; Feldman, Lynn K; Betensky, Rebecca A; Gospe, Sidney M.

J Child Neurol; 29(4): 487-92, 2014 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-23576414

14.

Childhood Graves disease masquerading as myasthenia gravis.

Perlman, Seth J; Zaidman, Craig M.

J Child Neurol; 28(10): 1309-11, 2013 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-22952313

15.

Clinical, neurological, and electrophysiological features of nodding syndrome in Kitgum, Uganda: an observational case series.

Sejvar, James J; Kakooza, Angelina M; Foltz, Jennifer L; Makumbi, Issa; Atai-Omoruto, Anne Deborah; Malimbo, Mugagga; Ndyomugyenyi, Richard; Alexander, Lorraine N; Abang, Betty; Downing, Robert G; Ehrenberg, Andrew; Guilliams, Kristin; Helmers, Sandra; Melstrom, Paul; Olara, Dennis; Perlman, Seth; Ratto, Jeffrey; Trevathan, Edwin; Winkler, Andrea S; Dowell, Scott F; Lwamafa, Dkw.

Lancet Neurol; 12(2): 166-74, 2013 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-23305742

16.

Transfusion in elderly patients with myocardial infarction.

Perlman, Seth; Moskowitz, David; Bennett, Henry.

N Engl J Med; 346(10): 779-82, 2002 Mar 07.

Artículo en Inglés | MEDLINE | ID: mdl-11883470

17.

Response to Eculizumab in Escherichia coli O157: H7-induced hemolytic uremic syndrome with severe neurological manifestations.

Saini, Arun; Emke, Amanda R; Silva, Manuel C; Perlman, Seth J.

Clin Pediatr (Phila); 54(4): 387-9, 2015 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-24817079

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