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Anesthesiology|October 9, 2014
Possible pathogenic mechanism of propofol infusion syndrome involves coenzyme qArnaud Vincent Vanlander, Juergen Guenther Okun, Annick de Jaeger, et al.
European Journal of Neurology|March 7, 2022
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxiaDanique Beijer, Maike F Dohrn, Jonathan De Winter, et al.
Human Molecular Genetics|November 16, 2014
Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxoninBethany L Johnson-Kerner, Faizzan S Ahmad, Alejandro Garcia Diaz, et al.
Muscle & Nerve|November 22, 2019
Diagnostic utility of small fiber analysis in skin biopsies from children with chronic painJonas Görlach, Daniel Amsel, Heike Kölbel, et al.
Molecular Genetics and Metabolism|November 12, 2017
New insights into the phenotype of FARS2 deficiencyElise Vantroys, Austin Larson, Marisa Friederich, et al.
Human Mutation|November 12, 2014
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)Arnaud V Vanlander, Björn Menten, Joél Smet, et al.
American Journal of Human Genetics|October 21, 2003
eIF2B-related disorders: antenatal onset and involvement of multiple organsMarjo S van der Knaap, Carola G M van Berkel, Jochen Herms, et al.
Human Molecular Genetics|March 7, 2013
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathyNikhita Ajit Bolar, Arnaud Vincent Vanlander, Claudia Wilbrecht, et al.
Journal of Medical Genetics|March 20, 2015
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorderCurtis R Coughlin, Gunter H Scharer, Marisa W Friederich, et al.
Orphanet Journal of Rare Diseases|May 23, 2022
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, et al.
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