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Gene|March 19, 2020
A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditionsTheresa Brunet, Dominik S Westphal, Sandrina Weber, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 5, 2014
Microstructure of transcallosal motor fibers reflects type of cortical (re-)organization in congenital hemiparesisHendrik Juenger, Inga K Koerte, Marc Muehlmann, et al.
Developmental Medicine and Child Neurology|August 14, 2013
Two types of exercise-induced neuroplasticity in congenital hemiparesis: a transcranial magnetic stimulation, functional MRI, and magnetoencephalography studyHendrik Juenger, Nicola Kuhnke, Christoph Braun, et al.
Molecular Genetics and Metabolism|July 15, 2022
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literatureNastassja Himmelreich, Bianca Dimitrov, Matthias Zielonka, et al.
Cancer|December 13, 2012
(18) F-fluorodeoxyglucose positron emission tomography/computed tomography for the detection of recurrent bone and soft tissue sarcomaAkram Al-Ibraheem, Andreas K Buck, Matthias R Benz, et al.
BMJ Paediatrics Open|September 23, 2025
Reduced hospitalisations for paediatric mild traumatic brain injury: a nationwide observational studyNora Bruns, Rayan Hojeij, Pia Brensing, et al.
The Lancet. Rheumatology|April 4, 2022
Autoantibodies against interleukin-1 receptor antagonist in multisystem inflammatory syndrome in children: a multicentre, retrospective, cohort studyJochen Pfeifer, Bernhard Thurner, Christoph Kessel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
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