J
Janbernd Kirschner
Researcher at University Hospital Bonn
Publications - 209
Citations - 11061
Janbernd Kirschner is an academic researcher from University Hospital Bonn. The author has contributed to research in topics: Spinal muscular atrophy & SMA*. The author has an hindex of 41, co-authored 180 publications receiving 8188 citations. Previous affiliations of Janbernd Kirschner include Children's Hospital of Philadelphia & Hospital of the University of Pennsylvania.
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Journal ArticleDOI
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
Richard S. Finkel,Eugenio Mercuri,Basil T. Darras,Anne M. Connolly,Nancy L. Kuntz,Janbernd Kirschner,Claudia A. Chiriboga,Kayoko Saito,Laurent Servais,Eduardo F. Tizzano,Haluk Topaloglu,Mar Tulinius,Jacqueline Montes,Allan M. Glanzman,Kathie M. Bishop,Z. John Zhong,Sarah Gheuens,C. Frank Bennett,Eugene Schneider,Wildon Farwell,Darryl C. De Vivo,Walter G. Bradley,M. K. Schroth,J. B. Bodensteriner,C. S. Davis,R. Shell,J. Hen,E. D. Austin,S. Aziz-Zaman,J. Cappell,Andrei Constantinescu,Rosangel Cruz,Jahannaz Dastgir,Sally Dunaway,K. Engelstad,M. Gormley,N. Holuba La Marca,Alexander G. Khandji,S. Kramer,Jonathan Marra,C. Ortiz-Miller,M. Popolizio,Rachel Salazar,L. Sanabria,L. Weimer,Pallavi Anand,R. Gadeken,Paul T. Golumbek,Catherine Siener,Craig M. Zaidman,Fouad Al-Ghamdi,C. Berde,Partha S. Ghosh,Robert J. Graham,Tim Harrington,A. Koka,R. Laine,W. Liew,Elizabeth Mirek,G. Ordonez,Amy Pasternak,Janet Quigley,Navil F. Sethna,M. Souris,Heather Szelag,L. Wand,John W. Day,Genevieve D'Souza,T. T. Duong,Richard Gee,J. Kitsuwa-Lowe,D. McFall,S. Patnaik,S. Paulose,Jennifer Perez,Christopher Proud,B. Purse,R. J. Ramamurthi,Sarada Sakamuri,Jacinda B. Sampson,B. Sanjanwala,A. C. Tesi Rocha,K. Watson,L. Welsh,L.D.M. Peña,Laura E. Case,J. Coates,Stephanie DeArmey,M. M. Homi,C. Milleson,N. Nelson,Alexandra C. Ross,Edward C. Smith,B. Taicher,J. Wootton,Erika Finanger,D. Benjamin,A. Frank,Catherine E. Roberts,Barry S. Russman,K. Zilke,D. Berry,Matthew Civitello,D. Cook,J. D. Endsley,C. Johnson,M. Kasper,W. Leon,A. Lim,K. O'Reardon,L. Y. Sigurdardottir,J. Turner,F. Weber-Guzman,M. Zinn,Susan T. Iannaccone,Diana Castro,M. Cowie,Alan C Farrow-Gillespie,A. Herbert,M. Kauk,D. McElroy,N. Miller,Leslie Nelson,Luke Smith,T. Spain,S. Trest,Nicholas E. Johnson,Russell J. Butterfield,D. DiBella,K. Mayne,T. M. Newcomb,N. Rausch,C. Blomgren,H. W. Choi,Leon G. Epstein,S. Goldman,Kristin J. Krosschell,Jena M. Krueger,Jonathan E. Kurz,Vamshi K. Rao,Julie A. Parsons,V. Allen,Alan Bielsky,K. Booker,A. Camuto,Terri Carry,Peter G. Fuhr,Melissa Gibbons,J. Janas,H. Johnson,C. Kelly,L. S. Lord-Halvorson,S. Nicolarsen,S. Shea,V. Tran,G. VanderVeen,M. Yang,C. Zimmerman,Perry B. Shieh,N. Parziale,L. Rao,J. W. Said,F. Shu,C. Skura,L. Staudt,Gihan Tennekoon,L. Adang,John F. Brandsema,M. Chadehumbe,Jean Flickinger,Elizabeth Kichula,D. Stanford,M. Toms,J. Zigmont,Maryam Oskoui,S. Arpin,P. Dinunzio,P. M. Ingelmo,C. Poulin,G. Rivera,C. Sabapathy,M. Srour,S. Turgeon-Desilet,D. Zielinski,Kathryn Selby,C. King,J. Lee,A. Michoulas,E. Roland,Jiri Vajsar,V. Chau,James J. Dowling,R. Haldenby,M. Miki,S. So,S. I. Pascual Pascual,A. Martinez Bermejo,S. Epinosa Garcia,S. Garcia Guixot,M. M. Martinez Moreno,M. del Pilar Tirado Requero,M. del Mar Garcia Romero,C. Aguilar,F. Munell Casadesus,M. B. Gomez Garcia de la Banda,M. Gallardo,G. Gili,M. Alavarez Molinero,M. de Los Angeles Tormos Munoz,N. J. Palacios,B. Planas Pascual,M. del Mar Melendez Plumed,A. F. Rucian,E. Toro Tamargo,M. Gratacos Vinola,S. Borell,Matthias Eckenweiler,Marcus Krüger,Astrid Pechmann,B. Rippberger,S. Stein,Sibylle Vogt,S. Wider,Ulrike Schara,B. Andres,A. Della Marina,A. Ganfuss,P. Jachertz,Heike Koelbel,K. Rupprich,E. S. Schroers,N. Sponemann,Claudio Bruno,Chiara Fiorillo,Alberto Garaventa,Paola Lanteri,Valentina Lanzillotta,C. Manzitti,M. Pedermonte,Paola Tacchetti,Federica Trucco,A. Zuffi,R. De Sanctis,Lavinia Fanelli,Marco Luigetti,Concetta Palermo,Marika Pane,Marco Piastra,Serena Sivo,E. Gargaun,Teresa Gidaro,S. Gilabert,P. L. Léger,A. G. Le Moing,C. Lilien,Michèle Mayer,Q. Ollievier,J. Rambaud,Jessica Taytard,R. Vialle,T. Voit,Francesco Muntoni,L. D'Argenzio,PH Lister,Adnan Y. Manzur,J. Pisco Domingos,Danielle Ramsey,Valeria Ricotti,L. Schottlaender,Mariacristina Scoto,S. M. Scuplak,V. Selby,Volker Straub,S. Baily,Marta Bertoli,A. Mayhew,Robert Muni Lofra,Adrian Murphy,Claire L Wood,Niklas Darin,J. Eldblom,E. Kimber,A. K. Kroksmark,A. Lindstedt,E. Michael,Kalliopi Sofou,Nicolas Deconinck,A. Christiaens,Sandra Coppens,K. DeCock,E. De Vos voor,F. Dorban,G. Gilbert,S. Rooze,V. Tahon,R. Van Coster,R. Van Der Looven,Arnaud Vanlander,D. Vens,Helene Verhelst,B. Wenderickx,S. Wittevrongel,Michelle A. Farrar,N. Berthon-Jones,Michael Doumit,Karen Herbert,Tejaswi Kandula,Margot Morrison,J. O'Brien,S. Richardson,H. A. Ferreira Sampaio,H. L. Teoh,Monique M. Ryan,K. Carroll,K. L. De Valle,D. Villano,Ian R. Woodcock,E. M. Yiu,Didem Ardicli,C. Gunbey,V. G. Haliloglu,Ayşe Karaduman,Bahadır Konuşkan,F. G. Yildiz Sarikaya,E. Serdaroglu,M. Tanyildiz,C. M. Temucin,Mirac Yildirim,Öznur Yilmaz,R. Arakawa,Y. Chiba,K. Eto,K. Hirasawa,T. Ikai,S. Ito,Y. Ito,Y. Kaburagi,H. Kaneko,S. Matsumaru,N. Matsushima,K. Mizuochi,S. Nagata,H. Nakatsukasa,A. Nishikawa,Y. Otani,T. Sato,M. Shichiji,K. Sugimoto,A. Takeshita,T. Yanagishita,A. Yamauchi,Y. Takeshima,T. Fujino,N. Fukuda,T. Lee,K. Oriyama,T. Shibano,H. Shimomura,T. Tachikawa,Y. Tanaka,N. Taniguchi,Jong-Hee Chae,S. A. Choi,S. M. Chun,H. Jo,H. Kim,S. Y. Kim,J. S. Lee,B. C. Lim,Hyung Ik Shin,W. S. Son,Sophelia H. S. Chan,A. C. Chung,C. S. Yan,C. Stella,C. K.W. Joseph,C. S. Ng,H. C.C. Alvin,I. J.K. Janice,L. W.M. Wendy,M. N. Chui-San,N. Y. Ki,T. N. Shun,W. Y. Connie,W. C. Virginia,Y. Yvonne,Y. J. Jong,Tai-Heng Chen,P. C. Chou,Y. H. Chou,H. W. Chung,J. H. Hsu,Y. H. Ju,W. C. Liang,H. H. Shih,H. Y. Wang,Y. C. Wu,Y. S. Zeng +397 more
TL;DR: Those who received nusinersen were more likely to be alive and have improvements in motor function than those in the control group and infants with a shorter disease duration at screening wereMore likely than those with a longer disease duration to benefit from nusineren.
Journal ArticleDOI
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
Hong Joo Kim,Nam Chul Kim,Yong Dong Wang,Emily A. Scarborough,Jennifer Moore,Zamia Diaz,Kyle S. MacLea,Brian D. Freibaum,Songqing Li,Amandine Molliex,Anderson P. Kanagaraj,Robert A. Carter,Kevin B. Boylan,Aleksandra Wojtas,Rosa Rademakers,Jack L. Pinkus,Steven A. Greenberg,John Q. Trojanowski,Bryan J. Traynor,Bradley N. Smith,Simon Topp,Athina Soragia Gkazi,Jack W. Miller,Christopher Shaw,Michael Kottlors,Janbernd Kirschner,Alan Pestronk,Yun Li,Alice Flynn Ford,Aaron D. Gitler,Michael Benatar,Oliver D. King,Virginia Kimonis,Eric D. Ross,Conrad C. Weihl,James Shorter,J. Paul Taylor +36 more
TL;DR: Dysregulated polymerization caused by a potent mutant steric zipper motif in a PrLD can initiate degenerative disease and related proteins with PrLDs should be considered candidates for initiating and perhaps propagating proteinopathies of muscle, brain, motor neuron and bone.
Journal ArticleDOI
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
Eugenio Mercuri,Basil T. Darras,Claudia A. Chiriboga,John W. Day,Craig Campbell,Anne M. Connolly,Susan T. Iannaccone,Janbernd Kirschner,Nancy L. Kuntz,Kayoko Saito,Perry B. Shieh,Mar Tulinius,Elena S. Mazzone,Jacqueline Montes,Kathie M. Bishop,Qingqing Yang,Richard Foster,Sarah Gheuens,C. Frank Bennett,Wildon Farwell,Eugene Schneider,Darryl C. De Vivo,Richard S. Finkel +22 more
TL;DR: Among children with later‐onset SMA, those who received nusinersen had significant and clinically meaningful improvement in motor function as compared with those in the control group.
Journal ArticleDOI
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Eugenio Mercuri,Richard S. Finkel,Francesco Muntoni,Brunhilde Wirth,Jacqueline Montes,Marion Main,Elena S. Mazzone,Michael G. Vitale,Brian D. Snyder,Susana Quijano-Roy,Enrico Bertini,Rebecca Hurst Davis,Oscar H. Meyer,Anita K. Simonds,Mary K. Schroth,Robert J. Graham,Janbernd Kirschner,Susan T. Iannaccone,Thomas O. Crawford,Simon Woods,Ying Qian,Thomas Sejersen +21 more
TL;DR: The methods used to achieve these recommendations are presented, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management are presented.
Journal ArticleDOI
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.
Richard S. Finkel,Eugenio Mercuri,Oscar H. Meyer,Anita K. Simonds,Mary K. Schroth,Robert J. Graham,Janbernd Kirschner,Susan T. Iannaccone,Thomas O. Crawford,Simon Woods,Francesco Muntoni,Brunhilde Wirth,Jacqueline Montes,Marion Main,Elena S. Mazzone,Michael G. Vitale,Brian D. Snyder,Susana Quijano-Roy,Enrico Bertini,Rebecca Hurst Davis,Ying Qian,Thomas Sejersen +21 more
TL;DR: This part includes updated recommendations on pulmonary management and acute care issues, and topics that have emerged in the last few years such as other organ involvement in the severe forms of spinal muscular atrophy and the role of medications.