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BMC Neurology|April 17, 2015
Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocolBas C Stunnenberg, Willem Woertman, Joost Raaphorst, et al.Neurology|September 1, 1996
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth diseaseA A Gabreëls-Festen, J E Hoogendijk, P H Meijerink, et al.Journal of Psychosomatic Research|September 5, 2020
Short fatigue questionnaire: Screening for severe fatigueAdriaan Penson, Sylvia van Deuren, Margreet Worm-Smeitink, et al.Neuromuscular Disorders : NMD|October 3, 2022
Having an eye for myotonic dystrophy: A qualitative study on experiences and support needs in myotonic dystrophy type 1 patients with a diagnostic delay after early-onset cataractI E A Karnebeek, H T M Boon, A M P Huis, et al.Skeletal Muscle|July 30, 2011
Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patientsSeyed Yahya Anvar, Peter Ac 't Hoen, Andrea Venema, et al.American Journal of Human Genetics|May 25, 2010
Haploinsufficiency of TAB2 causes congenital heart defects in humansBernard Thienpont, Litu Zhang, Alex V Postma, et al.The American Journal of Pathology|August 9, 2012
Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHDYvonne D Krom, Julie Dumonceaux, Kamel Mamchaoui, et al.EJNMMI Research|July 26, 2023
Altered brain metabolism in frontotemporal dementia and psychiatric disorders: involvement of the anterior cingulate cortexMarie-Paule E van Engelen, Sander C J Verfaillie, Annemieke Dols, et al.Critical Care Medicine|May 3, 2021
Plasma Ferritin as Marker of Macrophage Activation-Like Syndrome in Critically Ill Patients With Community-Acquired PneumoniaXanthe Brands, Floris M C de Vries, Fabrice Uhel, et al.European Heart Journal|November 7, 2017
Familial co-occurrence of congenital heart defects follows distinct patternsSabrina G Ellesøe, Christopher T Workman, Patrice Bouvagnet, et al.Pageof 84