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Journal of Medical Genetics|July 2, 2013
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutationEhud Banne, Osama Atawneh, Marco Henneke, et al.
Open Biology|November 25, 2016
The functional readthrough extension of malate dehydrogenase reveals a modification of the genetic codeJulia Hofhuis, Fabian Schueren, Christopher Nötzel, et al.
Neurology|September 25, 2023
Pretreatment Neurofilament Light Chain Serum Levels, Early Disease Severity, and Treatment Response in Pediatric Multiple SclerosisBrenda Huppke, Marie-Christine Reinert, Hannah Hummel-Abmeier, et al.
International Journal of Molecular Sciences|July 29, 2023
Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett SyndromeKeit Men Wong, Eike Wegener, Alireza Baradaran-Heravi, et al.
JIMD Reports|September 9, 2020
Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophiliaChris Mühlhausen, Lisa Henneke, Lars Schlotawa, et al.
Human Mutation|March 19, 2005
Identification of ten novel mutations in patients with eIF2B-related disordersAndreas Ohlenbusch, Marco Henneke, Knut Brockmann, et al.
Neuroradiology|October 30, 2008
Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo's concentric sclerosisSteffi F Dreha-Kulaczewski, Gunther Helms, Peter Dechent, et al.
Neuropediatrics|February 26, 2013
Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive functionMoneef Shoukier, Sigrid Fuchs, Eva Schwaibold, et al.
JAMA Neurology|July 16, 2019
Association of Obesity With Multiple Sclerosis Risk and Response to First-line Disease Modifying Drugs in ChildrenBrenda Huppke, David Ellenberger, Hannah Hummel, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|March 29, 2019
Upward movement of cerebrospinal fluid in obstructive hydrocephalus-revision of an old conceptHans C Bock, Steffi F Dreha-Kulaczewski, Awad Alaid, et al.
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