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Papers per year
Papers 70
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Novel Genetic and Biochemical Insights into the Spectrum of NEFL -Associated Phenotypes2024 Journal of Neuromuscular Diseases article Neuroscience Hereditary Neurological Disorders Open access
Adela Della Marina, Andreas Hentschel, Artur Czech, Ulrike Schara, Corinna Preuße, Andreas Laner, +7 more
10citations -
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, +58 more
9citations -
The systemic inhibition of the terminal complement system reduces neuroinflammation but does not improve motor function in mouse models of CMT1A with overexpressed PMP222023 Current Research in Neurobiology article Neuroscience Hereditary Neurological Disorders Open access
Iliana Michailidou, Jeroen P. Vreijling, Matthijs Rumpf, Maarten Loos, Bastijn Koopmans, Nina Vlek, +6 more
8citations -
Defective Schwann cell lipid metabolism alters plasma membrane dynamics in Charcot-Marie-Tooth disease 1A2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Hereditary Neurological Disorders Open access
Robert Prior, Alessio Silva, Tim Vangansewinkel, Jakub Idkowiak, Arun Kumar Tharkeshwar, Tom P. Hellings, +27 more
4citations -
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers2022 Neurological Research and Practice article Neuroscience Hereditary Neurological Disorders Open access
Maike Franziska Dohrn, Corina Heller, Diana Zengeler, Carolin D. Obermaier, Saskia Biskup, Joachim Weis, +9 more
3citations -
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism2025 European Journal of Medical Genetics article Neuroscience Hereditary Neurological Disorders Open access
Barbora Lauerová, Radim Mazanec, Katja Eggermann, Dana Šafka Brožková, Annette Lischka, Pavel Seeman, +2 more
2citations
Most active Aachen authors
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Maike Franziska Dohrn 995 citations overall33 papers
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Ingo Kurth 13,878 citations overall11 papers
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Frank F. Baas 36,181 citations overall9 papers
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Kees Fluiter 3,765 citations overall4 papers
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Marian A. J. Weterman 3,553 citations overall4 papers
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István Katona 3,510 citations overall4 papers