Prof. Dr. med. Janbernd Kirschner
Prof. Dr. med. Janbernd Kirschner
Direktor, Neuropädiatrie und SPZ, Universitätsklinikum Bonn
Verifierad e-postadress på ukbonn.de
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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
11102013
Nusinersen versus sham control in infantile-onset spinal muscular atrophy
RS Finkel, E Mercuri, BT Darras, AM Connolly, NL Kuntz, J Kirschner, ...
N Engl J Med 377, 1723-1732, 2017
10312017
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
6492018
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
3952015
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
3622018
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
3252008
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
2892014
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
2882009
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
2722018
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
2492017
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
1862005
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
1812012
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
1642007
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
1592019
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
J Schessl, Y Zou, MJ McGrath, BS Cowling, B Maiti, SS Chin, C Sewry, ...
The Journal of clinical investigation 118 (3), 904-912, 2008
1492008
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
1472011
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
C Stendel, A Roos, T Deconinck, J Pereira, F Castagner, A Niemann, ...
The American Journal of Human Genetics 81 (1), 158-164, 2007
1472007
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
RA Kley, Y Hellenbroich, PFM Van der Ven, DO Fürst, A Huebner, ...
Brain 130 (12), 3250-3264, 2007
1452007
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
1272012
Mitochondrial tubulopathy in tenofovir disoproxil fumarate-treated rats
D Lebrecht, AC Venhoff, J Kirschner, T Wiech, N Venhoff, UA Walker
JAIDS Journal of Acquired Immune Deficiency Syndromes 51 (3), 258-263, 2009
1122009
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Artiklar 1–20