Assessment of small fiber neuropathy in patients carrying the non‐classical Fabry variant p.D313Y von Cossel, Katharina, Muschol, Nicole, Friedrich, Reinhard E., Glatzel, Markus, Ammer, Luise, Lohmöller, Benjamin, Bendszus, Martin, Mautner, Victor‐Felix, Godel, Tim

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Asymmetry of thalamic hypometabolism on FDG‐PET/CT in neurofibromatosis type 1: Association with peripheral tumor burden von Özden, Cansu, Mautner, Victor‐Felix, Farschtschi, Said, Molwitz, Isabel, Ristow, Inka, Bannas, Peter, Well, Lennart, Klutmann, Susanne, Adam, Gerhard, Apostolova, Ivayla, Buchert, Ralph

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Response to trametinib treatment in progressive pediatric low-grade glioma patients von Selt, Florian, van Tilburg, Cornelis M., Bison, Brigitte, Sievers, Philipp, Harting, Inga, Ecker, Jonas, Pajtler, Kristian W., Sahm, Felix, Bahr, Annabelle, Simon, Michèle, Jones, David T. W., Well, Lennart, Mautner, Victor-Felix, Capper, David, Hernáiz Driever, Pablo, Gnekow, Astrid, Pfister, Stefan M., Witt, Olaf, Milde, Till

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Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2 von Godel, Tim, Mautner, Victor‐Felix, Farschtschi, Said, Pham, Mirko, Schwarz, Daniel, Kronlage, Moritz, Gugel, Isabel, Heiland, Sabine, Bendszus, Martin, Bäumer, Philipp

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Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism von Kluwe, Lan, Friedrich, Reinhard E., Farschtschi, Said C., Hagel, Christian, Kehrer‐Sawatzki, Hildegard, Mautner, Victor‐Felix

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Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth von Well, Lennart, Döbel, Kimberly, Kluwe, Lan, Bannas, Peter, Farschtschi, Said, Adam, Gerhard, Mautner, Victor-Felix, Salamon, Johannes

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Methylation-based classification of benign and malignant peripheral nerve sheath tumors von Röhrich, Manuel, Koelsche, Christian, Schrimpf, Daniel, Capper, David, Sahm, Felix, Kratz, Annekathrin, Reuss, Jana, Hovestadt, Volker, Jones, David T. W., Bewerunge-Hudler, Melanie, Becker, Albert, Weis, Joachim, Mawrin, Christian, Mittelbronn, Michel, Perry, Arie, Mautner, Victor-Felix, Mechtersheimer, Gunhild, Hartmann, Christian, Okuducu, Ali Fuat, Arp, Mirko, Seiz-Rosenhagen, Marcel, Hänggi, Daniel, Heim, Stefanie, Paulus, Werner, Schittenhelm, Jens, Ahmadi, Rezvan, Herold-Mende, Christel, Unterberg, Andreas, Pfister, Stefan M., von Deimling, Andreas, Reuss, David E.

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Distinctive low epidermal nerve fiber density in schwannomatosis patients provides a major parameter for diagnosis and differential diagnosis von Farschtschi, Said C., Kluwe, Lan, Schön, Gerhard, Friedrich, Reinhard E., Matschke, Jakob, Glatzel, Markus, Weis, Joachim, Hagel, Christian, Mautner, Victor‐Felix

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Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study von Depping, Miram K, Uhlenbusch, Natalie, von Kodolitsch, Yskert, Klose, Hans F E, Mautner, Victor-Felix, Löwe, Bernd

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Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions von Summerer, Anna, Schäfer, Eleonora, Mautner, Victor-Felix, Messiaen, Ludwine, Cooper, David N., Kehrer-Sawatzki, Hildegard

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Evidence for a low‐penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6 von Kordes, Uwe, Mautner, Victor‐Felix, Oyen, Florian, Hagel, Christian, Hartmann, Christian, Heuser, Michael, Frühwald, Michael, Hasselblatt, Martin, Oehl‐Huber, Kathrin, Siebert, Reiner, Schneppenheim, Reinhard, Schüller, Ulrich

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White matter is increased in the brains of adults with neurofibromatosis 1 von Wang, Su, Friedman, Jan M, Suppa, Per, Buchert, Ralph, Mautner, Victor-Felix

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Upregulated immuno-modulator PD-L1 in malignant peripheral nerve sheath tumors provides a potential biomarker and a therapeutic target von Farschtschi, Said, Kluwe, Lan, Park, Su-Jin, Oh, Su-Jun, Mah, Nancy, Mautner, Victor-Felix, Kurtz, Andreas

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Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI von Well, Lennart, Careddu, Anna, Stark, Maria, Farschtschi, Said, Bannas, Peter, Adam, Gerhard, Mautner, Victor-Felix, Salamon, Johannes

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MRI based volumetric measurements of vestibular schwannomas in patients with neurofibromatosis type 2: comparison of three different software tools von Kollmann, Philipp, Mautner, Victor-Felix, Koeppen, Johannes, Wenzel, Ralph, Friedman, Jan M., Salamon, Johannes, Farschtschi, Said

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The adverse influence of attention-deficit disorder with or without hyperactivity on cognition in neurofibromatosis type 1 von LIDZBA, KAREN, GRANSTRÖM, SOFIA, LINDENAU, JORGE, MAUTNER, VICTOR-FELIX

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Emerging genotype–phenotype relationships in patients with large NF1 deletions von Kehrer-Sawatzki, Hildegard, Mautner, Victor-Felix, Cooper, David N.

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Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions von Kehrer-Sawatzki, Hildegard, Wahlländer, Ute, Cooper, David N, Mautner, Victor-Felix

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Author Correction: Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI von Well, Lennart, Careddu, Anna, Stark, Maria, Farschtschi, Said, Bannas, Peter, Adam, Gerhard, Mautner, Victor-Felix, Salamon, Johannes

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Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas von Kehrer-Sawatzki, Hildegard, Kluwe, Lan, Friedrich, Reinhard E., Summerer, Anna, Schäfer, Eleonora, Wahlländer, Ute, Matthies, Cordula, Gugel, Isabel, Farschtschi, Said, Hagel, Christian, Cooper, David N., Mautner, Victor-Felix

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