Nusinersen versus sham control in infantile-onset spinal muscular atrophy RS Finkel, E Mercuri, BT Darras, AM Connolly, NL Kuntz, J Kirschner, ... New England Journal of Medicine 377 (18), 1723-1732, 2017 | 2055 | 2017 |
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS HJ Kim, NC Kim, YD Wang, EA Scarborough, J Moore, Z Diaz, ... Nature 495 (7442), 467-473, 2013 | 1552 | 2013 |
Nusinersen versus sham control in later-onset spinal muscular atrophy E Mercuri, BT Darras, CA Chiriboga, JW Day, C Campbell, AM Connolly, ... New England Journal of Medicine 378 (7), 625-635, 2018 | 1279 | 2018 |
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ... Neuromuscular disorders 28 (2), 103-115, 2018 | 924 | 2018 |
The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations CL Bladen, D Salgado, S Monges, ME Foncuberta, K Kekou, K Kosma, ... Human mutation 36 (4), 395-402, 2015 | 720 | 2015 |
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics RS Finkel, E Mercuri, OH Meyer, AK Simonds, MK Schroth, RJ Graham, ... Neuromuscular Disorders 28 (3), 197-207, 2018 | 631 | 2018 |
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study C Darryl, E Bertini, KJ Swoboda, WL Hwu, TO Crawford, RS Finkel, ... Neuromuscular Disorders 29 (11), 842-856, 2019 | 544 | 2019 |
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial CM McDonald, C Campbell, RE Torricelli, RS Finkel, KM Flanigan, ... The Lancet 390 (10101), 1489-1498, 2017 | 453 | 2017 |
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia C Bergmann, M Fliegauf, NO Brüchle, V Frank, H Olbrich, J Kirschner, ... The American Journal of Human Genetics 82 (4), 959-970, 2008 | 390 | 2008 |
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies RW Taylor, A Pyle, H Griffin, EL Blakely, J Duff, L He, T Smertenko, ... Jama 312 (1), 68-77, 2014 | 383 | 2014 |
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia CA McCarl, C Picard, S Khalil, T Kawasaki, J Röther, A Papolos, J Kutok, ... Journal of Allergy and Clinical Immunology 124 (6), 1311-1318. e7, 2009 | 375 | 2009 |
Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study T Hagenacker, CD Wurster, R Günther, O Schreiber-Katz, A Osmanovic, ... The Lancet Neurology 19 (4), 317-325, 2020 | 258 | 2020 |
Intravenously administered immunoglobulin in the treatment of childhood Guillain-Barré syndrome: a randomized trial R Korinthenberg, J Schessl, J Kirschner, JS Mönting Pediatrics 116 (1), 8-14, 2005 | 248 | 2005 |
Clinical presentation and course of childhood Guillain-Barré syndrome: a prospective multicentre study R Korinthenberg, J Schessl, J Kirschner Neuropediatrics 38 (01), 10-17, 2007 | 231 | 2007 |
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome JA Mayr, TB Haack, E Graf, FA Zimmermann, T Wieland, B Haberberger, ... The American Journal of Human Genetics 90 (2), 314-320, 2012 | 230 | 2012 |
Advances in treatment of spinal muscular atrophy–new phenotypes, new challenges, new implications for care DC Schorling, A Pechmann, J Kirschner Journal of neuromuscular diseases 7 (1), 1-13, 2020 | 228 | 2020 |
Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis E Landfeldt, R Thompson, T Sejersen, HJ McMillan, J Kirschner, ... European journal of epidemiology 35, 643-653, 2020 | 188 | 2020 |
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect J Senderek, JS Müller, M Dusl, TM Strom, V Guergueltcheva, I Diepolder, ... The American Journal of Human Genetics 88 (2), 162-172, 2011 | 182 | 2011 |
Safety and treatment effects of nusinersen in longstanding adult 5q-SMA type 3–a prospective observational study MC Walter, S Wenninger, S Thiele, J Stauber, M Hiebeler, E Greckl, ... Journal of neuromuscular diseases 6 (4), 453-465, 2019 | 173 | 2019 |
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene‐associated myopathies A Klein, S Lillis, I Munteanu, M Scoto, H Zhou, R Quinlivan, V Straub, ... Human mutation 33 (6), 981-988, 2012 | 171 | 2012 |