Assessment of small fiber neuropathy in patients carrying the non‐classical Fabry variant p.D313Y
Cossel, Katharina, Muschol, Nicole, Friedrich, Reinhard E., Glatzel, Markus, Ammer, Luise, Lohmöller, Benjamin, Bendszus, Martin, Mautner, Victor‐Felix, Godel, Tim
Published in Muscle & nerve (01.05.2021)
Published in Muscle & nerve (01.05.2021)
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Journal Article
Response to trametinib treatment in progressive pediatric low-grade glioma patients
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
Published in Journal of neuro-oncology (01.09.2020)
Published in Journal of neuro-oncology (01.09.2020)
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Journal Article
Asymmetry of thalamic hypometabolism on FDG‐PET/CT in neurofibromatosis type 1: Association with peripheral tumor burden
Özden, Cansu, Mautner, Victor‐Felix, Farschtschi, Said, Molwitz, Isabel, Ristow, Inka, Bannas, Peter, Well, Lennart, Klutmann, Susanne, Adam, Gerhard, Apostolova, Ivayla, Buchert, Ralph
Published in Journal of neuroimaging (01.01.2024)
Published in Journal of neuroimaging (01.01.2024)
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Journal Article
Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2
Godel, Tim, Mautner, Victor‐Felix, Farschtschi, Said, Pham, Mirko, Schwarz, Daniel, Kronlage, Moritz, Gugel, Isabel, Heiland, Sabine, Bendszus, Martin, Bäumer, Philipp
Published in Annals of neurology (01.04.2018)
Published in Annals of neurology (01.04.2018)
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Journal Article
Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism
Kluwe, Lan, Friedrich, Reinhard E., Farschtschi, Said C., Hagel, Christian, Kehrer‐Sawatzki, Hildegard, Mautner, Victor‐Felix
Published in Human mutation (01.07.2020)
Published in Human mutation (01.07.2020)
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Journal Article
Methylation-based classification of benign and malignant peripheral nerve sheath tumors
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.
Published in Acta neuropathologica (01.06.2016)
Published in Acta neuropathologica (01.06.2016)
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Journal Article
Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth
Well, Lennart, Döbel, Kimberly, Kluwe, Lan, Bannas, Peter, Farschtschi, Said, Adam, Gerhard, Mautner, Victor-Felix, Salamon, Johannes
Published in PLoS genetics (05.05.2021)
Published in PLoS genetics (05.05.2021)
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Journal Article
Distinctive low epidermal nerve fiber density in schwannomatosis patients provides a major parameter for diagnosis and differential diagnosis
Farschtschi, Said C., Kluwe, Lan, Schön, Gerhard, Friedrich, Reinhard E., Matschke, Jakob, Glatzel, Markus, Weis, Joachim, Hagel, Christian, Mautner, Victor‐Felix
Published in Brain pathology (Zurich, Switzerland) (01.03.2020)
Published in Brain pathology (Zurich, Switzerland) (01.03.2020)
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Journal Article
Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study
Depping, Miram K, Uhlenbusch, Natalie, von Kodolitsch, Yskert, Klose, Hans F E, Mautner, Victor-Felix, Löwe, Bernd
Published in Orphanet journal of rare diseases (22.01.2021)
Published in Orphanet journal of rare diseases (22.01.2021)
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Journal Article
Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions
Summerer, Anna, Schäfer, Eleonora, Mautner, Victor-Felix, Messiaen, Ludwine, Cooper, David N., Kehrer-Sawatzki, Hildegard
Published in Human genetics (01.01.2019)
Published in Human genetics (01.01.2019)
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Journal Article
White matter is increased in the brains of adults with neurofibromatosis 1
Wang, Su, Friedman, Jan M, Suppa, Per, Buchert, Ralph, Mautner, Victor-Felix
Published in Orphanet journal of rare diseases (05.03.2022)
Published in Orphanet journal of rare diseases (05.03.2022)
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Journal Article
Upregulated immuno-modulator PD-L1 in malignant peripheral nerve sheath tumors provides a potential biomarker and a therapeutic target
Farschtschi, Said, Kluwe, Lan, Park, Su-Jin, Oh, Su-Jun, Mah, Nancy, Mautner, Victor-Felix, Kurtz, Andreas
Published in Cancer Immunology, Immunotherapy (01.07.2020)
Published in Cancer Immunology, Immunotherapy (01.07.2020)
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Journal Article
Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI
Well, Lennart, Careddu, Anna, Stark, Maria, Farschtschi, Said, Bannas, Peter, Adam, Gerhard, Mautner, Victor-Felix, Salamon, Johannes
Published in Scientific reports (19.08.2021)
Published in Scientific reports (19.08.2021)
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Journal Article
Evidence for a low‐penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6
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
Published in Pediatric blood & cancer (01.10.2021)
Published in Pediatric blood & cancer (01.10.2021)
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Journal Article
MRI based volumetric measurements of vestibular schwannomas in patients with neurofibromatosis type 2: comparison of three different software tools
Kollmann, Philipp, Mautner, Victor-Felix, Koeppen, Johannes, Wenzel, Ralph, Friedman, Jan M., Salamon, Johannes, Farschtschi, Said
Published in Scientific reports (14.07.2020)
Published in Scientific reports (14.07.2020)
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Journal Article
Author Correction: Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI
Well, Lennart, Careddu, Anna, Stark, Maria, Farschtschi, Said, Bannas, Peter, Adam, Gerhard, Mautner, Victor-Felix, Salamon, Johannes
Published in Scientific reports (30.08.2021)
Published in Scientific reports (30.08.2021)
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Journal Article
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas
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
Published in Human genetics (01.07.2018)
Published in Human genetics (01.07.2018)
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Journal Article
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation
Frayling, Ian M, Mautner, Victor-Felix, van Minkelen, Rick, Kallionpaa, Roope A, Aktaş, Safiye, Baralle, Diana, Ben-Shachar, Shay, Callaway, Alison, Cox, Harriet, Eccles, Diana M, Ferkal, Salah, LaDuca, Holly, Lázaro, Conxi, Rogers, Mark T, Stuenkel, Aaron J, Summerour, Pia, Varan, Ali, Yap, Yoon Sim, Zehou, Ouidad, Peltonen, Juha, Evans, D Gareth, Wolkenstein, Pierre, Upadhyaya, Meena
Published in Journal of medical genetics (01.04.2019)
Published in Journal of medical genetics (01.04.2019)
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Journal Article