Prof. Dr. med. Dirk Fischer

Henzi, Bettina C., Putananickal, Niveditha, Schmidt, Simone, Nagy, Sara, Rubino–Nacht, Daniela, Schaedelin, Sabine, Amthor, Helge, Childs, Anne–Marie, Deconinck, Nicolas, Horrocks, Iain, Houwen–van Opstal, Saskia, Laugel, Vincent, Lobato, Mercedes Lopez, Osorio, Andrés Nascimento, Schara–Schmidt, Ulrike, Spinty, Stefan, von Moers, Arpad, Lawrence, Fiona, Hafner, Patricia, et al. (2025). Safety and efficacy of tamoxifen in non-ambulant patients with Duchenne muscular dystrophy: a multicentre, randomised, double–blind, placebo–controlled, phase 3 trial (TAMDMD Group B). Neuromuscular Disorders, 47. https://doi.org/10.1016/j.nmd.2025.105275

Kesenheimer, Eva Maria, Wendebourg, Maria Janina, Weidensteiner, Claudia, Sander, Laura, Weigel, Matthias, Haas, Tanja, Fischer, Dirk, Neuwirth, Christoph, Braun, Nathalie, Weber, Markus, Granziera, Cristina, Sinnreich, Michael, Bieri, Oliver, & Schlaeger, Regina. (2025). Spinal cord gray matter atrophy is associated with disability in spinal muscular atrophy. Journal of Neurology, 272(1). https://doi.org/10.1007/s00415-024-12740-3

Nagy, Sara, Kubassova, Olga, Hafner, Patricia, Schädelin, Sabine, Schmidt, Simone, Sinnreich, Michael, Schröder, Jonas, Bieri, Oliver, Boesen, Mikael, & Fischer, Dirk. (2025). Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy. Journal of Neuromuscular Diseases. https://doi.org/10.1177/22143602251319184

Henzi, Bettina C., Lava, Sebastiano A. G., Spagnuolo, Carlos, Putananickal, Niveditha, Donner, Birgit C., Pfluger, Marc, Burkhardt, Barbara, & Fischer, Dirk. (2024). Tamoxifen may contribute to preserve cardiac function in Duchenne muscular dystrophy. European Journal of Pediatrics, 183(9), 4057–4062. https://doi.org/10.1007/s00431-024-05670-9

Chiriboga, Claudia A., Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Scalco, Renata S., Fontoura, Paulo, & Muntoni, Francesco. (2024). JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of Neurology, 271(8), 4871–4884. https://doi.org/10.1007/s00415-024-12318-z

Gross, Elena C., Putananickal, Niveditha, Orsini, Anna-Lena, Schoenen, Jean, Fischer, Dirk, & Soto-Mota, Adrian. (2023). Defining metabolic migraine with a distinct subgroup of patients with suboptimal inflammatory and metabolic markers. Scientific Reports, 13(1). https://doi.org/10.1038/s41598-023-28499-y

Timpani, Cara A., Kourakis, Stephanie, Debruin, Danielle A., Campelj, Dean G., Pompeani, Nancy, Dargahi, Narges, Bautista, Angelo P., Bagaric, Ryan M., Ritenis, Elya J., Sahakian, Lauren, Debrincat, Didier, Stupka, Nicole, Hafner, Patricia, Arthur, Peter G., Terrill, Jessica R., Apostolopoulos, Vasso, de Haan, Judy B., Guven, Nuri, Fischer, Dirk, & Rybalka, Emma. (2023). Dimethyl fumarate modulates the dystrophic disease program following short-term treatment. JCI Insight, 8(21). https://doi.org/10.1172/jci.insight.165974

Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, E., Kirschner, J., Kostera-Pruszczyk, A., Jaber, B., Gorni, K., Kletzl, H., Carruthers, I., Martin, C., Warren, F., Scalco, R. S., Wagner, K. R., Muntoni, F., Deconinck, N., Balikova, I., Joniau, I., et al. (2023). Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study (Neurology and Therapy, (2023), 12, 2, (543-557), 10.1007/s40120-023-00444-1). Neurology and Therapy, 12(5), 1799–1801. https://doi.org/10.1007/s40120-023-00503-7

Chiriboga, Claudia A., Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Warren, Francis, Scalco, Renata S., Wagner, Kathryn R., & Muntoni, Francesco. (2023). Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study. Neurology and Therapy, 12(2), 543–557. https://doi.org/10.1007/s40120-023-00444-1

Putananickal, Niveditha, Gross, Elena C., Orsini, Anna-Lena, Schmidt, Simone, Hafner, Patricia, Gocheva, Vanya, Nagy, Sara, Henzi, Bettina C., Rubino, Daniela, Schädelin, Sabine, Sandor, Peter, & Fischer, Dirk. (2023). Metabolic markers of short and long-term exogenous DL-beta-hydroxybutyrate supplementation in episodic migraine patients: an exploratory analysis of a randomized-controlled-trial. Frontiers in Pharmacology, 14. https://doi.org/10.3389/fphar.2023.1172483

Baskal S, Bollenbach A, Henzi B, Hafner P, Fischer D, & Tsikas D. (2022). Stable-Isotope Dilution GC–MS Measurement of Metformin in Human Serum and Urine after Derivatization with Pentafluoropropionic Anhydride and Its Application in Becker Muscular Dystrophy Patients Administered with Metformin, L-Citrulline, or Their Combination. Molecules, 27(12). https://doi.org/10.3390/molecules27123850

Wendebourg MJ, Weigel M, Richter L, Gocheva V, Hafner P, Orsini A.-L., Crepulja V, Schmidt S, Huck A., Oechtering J., Blatow M, Haas T., Granziera C, Kappos L, Cattin P, Bieri O., Fischer D, & Schlaeger R. (2022). Spinal cord gray matter atrophy is associated with functional decline in post-polio syndrome. European Journal of Neurology, 29(5), 1435–1445. https://doi.org/10.1111/ene.15261

Putananickal N, Gross E.C., Orsini A.-L., Schmidt S., Hafner P, Gocheva V., Nagy S, Henzi B.C., Rubino D, Vogt DR, Cichon S., Sandor P., & Fischer D. (2022). Efficacy and safety of exogenous beta-hydroxybutyrate for preventive treatment in episodic migraine: A single-centred, randomised, placebo-controlled, double-blind crossover trial. Cephalalgia, 42(4-5), 302–311. https://doi.org/10.1177/03331024211043792

Hafner P, Schmidt S, Schädelin S, Rippert P, Hamroun D, Fabien S, Henzi B, Putananickal N, Rubino-Nacht D, Vuillerot C, Fischer D, & MFM registry Study Group. (2022). Implementation of Motor Function Measure score percentile curves - Predicting motor function loss in Duchenne muscular dystrophy. European Journal of Paediatric Neurology, 36, 78–83. https://doi.org/10.1016/j.ejpn.2021.11.004

Gross EC, Putananickal N, Orsini AL, Vogt DR, Sandor PS, Schoenen J, & Fischer D. (2021). Mitochondrial function and oxidative stress markers in higher-frequency episodic migraine. Scientific Reports, 11(1), 4543. https://doi.org/10.1038/s41598-021-84102-2

Kourakis S, Timpani CA, Campelj DG, Hafner P, Gueven N, Fischer D, & Rybalka E. (2021). Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better? Orphanet Journal of Rare Diseases, 16(1), 117. https://doi.org/10.1186/s13023-021-01758-9

Putananickal N., Orsini A.-L., Schmidt S., Gocheva V, Rubino D., Haas T, Schadelin S., Deligianni X, Bieri O., Fischer D, & Hafner P. (2021). Treatment with L‐Citrulline in patients with post‐polio syndrome: A single center, randomized, double blind, placebo‐controlled trial. Neuromuscular Disorders, 31(11), 1136–1143. https://doi.org/10.1016/j.nmd.2021.08.011

Kourakis S., Timpani C.A., de Haan J.B., Gueven N., Fischer D, & Rybalka E. (2021). Targeting Nrf2 for the treatment of Duchenne Muscular Dystrophy. Redox Biology, 38. https://doi.org/10.1016/j.redox.2020.101803

Gocheva V, Hafner P, Orsini AL, Schmidt S, Schaedelin S, Rueedi N, Rubino-Nacht D, Weber P, & Fischer D. (2020). Health-related quality of life, self-reported impairments and activities of daily living in relation to muscle function in post-polio syndrome. Journal of Patient-Reported Outcomes, 4(1), 59. https://doi.org/10.1186/s41687-020-00226-5

Kourakis S, Timpani CA, de Haan JB, Gueven N, Fischer D, & Rybalka E. (2020). Dimethyl fumarate and its esters: A drug with broad clinical utility? Pharmaceuticals, 13(10), 1–15. https://doi.org/10.3390/ph13100306

Nagy, Sara, Schädelin, Sabine, Hafner, Patricia, Bonati, Ulrike, Scherrer, Delia, Ebi, Selina, Schmidt, Simone, Orsini, Anna‐Lena, Bieri, Oliver, & Fischer, Dirk. (2020). Longitudinal reliability of outcome measures in patients with Duchenne muscular dystrophy [Journal-article]. Muscle & Nerve, 61(1), 63–68. https://doi.org/10.1002/mus.26690

Gocheva V, Schmidt S, Orsini AL, Hafner P, Schaedelin S, Rueedi N, Weber P, & Fischer D. (2019). Association Between Health-Related Quality of Life and Motor Function in Ambulant and Nonambulant Duchenne Muscular Dystrophy Patients. Journal of Child Neurology, 34(14), 873–885. https://doi.org/10.1177/0883073819865681

Nagy S, Hafner P, Schmidt S, Rubino-Nacht D, Schädelin S, Bieri O, & Fischer D. (2019). Tamoxifen in Duchenne muscular dystrophy (TAMDMD): Study protocol for a multicenter, randomized, placebo-controlled, double-blind phase 3 trial. Trials, 20(1), 637. https://doi.org/10.1186/s13063-019-3740-6

Gocheva V, Schmidt S, Orsini AL, Hafner P, Schaedelin S, Weber P, & Fischer D. (2019). Psychosocial adjustment and parental stress in Duchenne Muscular Dystrophy. European Journal of Paediatric Neurology, 23(6), 832–841. https://doi.org/10.1016/j.ejpn.2019.09.008

Gross EC, Lisicki M, Fischer D, Sándor PS, & Schoenen J. (2019). The metabolic face of migraine — from pathophysiology to treatment. Nature Reviews Neurology, 15(11), 627–643. https://doi.org/10.1038/s41582-019-0255-4

Hafner P, Bonati U, Klein A, Rubino D, Gocheva V, Schmidt S, Schroeder J, Bernert G, Laugel V, Steinlin M, Capone A, Gloor M, Bieri O, Hemkens LG, Speich B, Zumbrunn T, Gueven N, & Fischer D. (2019). Effect of combination l-citrulline and metformin treatment on motor function in patients with duchenne muscular dystrophy: A randomized clinical Trial. JAMA Network Open, 2(10), e1914171. https://doi.org/10.1001/jamanetworkopen.2019.14171

Gross EC, Klement RJ, Schoenen J, D’Agostino DP, & Fischer D. (2019). Potential protective mechanisms of ketone bodies in migraine prevention. Nutrients, 11(4). https://doi.org/10.3390/nu11040811

Gross E, Putananickal N, Orsini AL, Schmidt S, Vogt DR, Cichon S, Sandor P, & Fischer D. (2019). Efficacy and safety of exogenous ketone bodies for preventive treatment of migraine: A study protocol for a single-centred, randomised, placebo-controlled, double-blind crossover trial. Trials, 20(1), 61. https://doi.org/10.1186/s13063-018-3120-7

Fischer, Dirk, Bonati, Ulrike, & Wattjes, Mike P. (2019). Muscle MRI as an Endpoint in Clinical Trials. In Muscle Gene Therapy, Second Edition: Vol. null (pp. 699–708). Springer International Publishing. https://doi.org/10.1007/978-3-030-03095-7_40

Kletzl H, Marquet A, Günther A, Tang W, Heuberger J, Groeneveld GJ, Birkhoff W, Mercuri E, Lochmüller H, Wood C, Fischer D, Gerlach I, Heinig K, Bugawan T, Dziadek S, Kinch R, Czech C, & Khwaja O. (2019). The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy. Neuromuscular Disorders, 29(1), 21–29. https://doi.org/10.1016/j.nmd.2018.10.001

Nagy S, Schmidt S, Hafner P, Klein A, Rubino-Nacht D, Gocheva V, Bieri O, Vuillerot C, Bonati U, & Fischer D. (2019). Measurements of motor function and other clinical outcome parameters in ambulant children with duchenne muscular dystrophy. Journal of Visualized Experiments, 2019(143). https://doi.org/10.3791/58784

Tsagkas C, Altermatt A, Bonati U, Pezold S, Reinhard J, Amann M, Cattin P, Wuerfel J, Fischer D, Parmar K, & Fischmann A. (2018). Reliable and fast volumetry of the lumbar spinal cord using cord image analyser (Cordial). European Radiology, 28(11), 4488–4495. https://doi.org/10.1007/s00330-018-5431-1

Tsagkas, Charidimos, Altermatt, Anna, Bonati, Ulrike, Pezold, Simon, Reinhard, Julia, Amann, Michael, Cattin, Philippe, Wuerfel, Jens, Fischer, Dirk, Parmar, Katrin, & Fischmann, Arne. (2018). Reliable and fast volumetry of the lumbar spinal cord using cord image analyser (Cordial). European Radiology, 28(11), 4488–4495. https://doi.org/10.1007/s00330-018-5431-1

Hanff E, Hafner P, Bollenbach A, Bonati U, Kayacelebi AA, Fischer D, & Tsikas D. (2018). Effects of single and combined metformin and l-citrulline supplementation on l-arginine-related pathways in Becker muscular dystrophy patients: possible biochemical and clinical implications. Amino Acids, 50(10), 1391–1406. https://doi.org/10.1007/s00726-018-2614-7

Chen X, Wolf D, Siebourg-Polster J, Czech C, Bonati U, Fischer D, Khwaja O, & Strahm M. (2018). An objective and child-friendly assessment of arm function by using a 3-D sensor (Patent No. 132). Journal of Visualized Experiments, 2018(132), Article 132. https://doi.org/10.3791/57014

Schmidt S, Hafner P, Klein A, Rubino-Nacht D, Gocheva V, Schroeder J, Naduvilekoot Devasia A, Zuesli S, Bernert G, Laugel V, Bloetzer C, Steinlin M, Capone A, Gloor M, Tobler P, Haas T, Bieri O, Zumbrunn T, Fischer D, & Bonati U. (2018). Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy. A cross-sectional analysis. Neuromuscular Disorders, 28(1), 16–23. https://doi.org/10.1016/j.nmd.2017.10.003

Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, et al. (2017). Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. Journal of Neurochemistry, 143(5), 507–522. https://doi.org/10.1111/jnc.14217

Wattjes MP, Fischmann A, & Fischer D. (2017). [Imaging of primary muscular diseases : What do neurologists expect from radiologists?]. Der Radiologe, 57(12), 1005–1011. https://doi.org/10.1007/s00117-017-0309-9

Burakiewicz J, Sinclair CDJ, Fischer D, Walter GA, Kan HE, & Hollingsworth KG. (2017). Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy. Journal of Neurology, 264(10), 2053–2067. https://doi.org/10.1007/s00415-017-8547-3

Chiriboga, C., Mercuri, E., Fischer, D., Marquet, A., Kraus, D., Alexander, M., Cho, A., Armstrong, G., Kletzl, H., Czech, C., Seabrook, T., Abdallah, H., Mueller, L., Gorni, K., & Khwaja, O. (2017). A series of case reports from JEWELFISH, an open-label study to investigate the safety, tolerability, and pharmacokinetics/pharmacodynamics of RG7916 in adult and pediatric patients with spinal muscular atrophy who previously participated in a study with another SMN2-targeting therapy [PERGAMON-ELSEVIER SCIENCE LTD]. 27, S209–S209. https://doi.org/10.1016/j.nmd.2017.06.416

Bonati U, Holiga Š, Hellbach N, Risterucci C, Bergauer T, Tang W, Hafner P, Thoeni A, Bieri O, Gerlach I, Marquet A, Khwaja O, Sambataro F, Bertolino A, Dukart J, Fischmann A, Fischer D, & Czech C. (2017). Longitudinal characterization of biomarkers for spinal muscular atrophy. Annals of clinical and translational neurology, 4(5), 292–304. https://doi.org/10.1002/acn3.406

Schmidt S, Gocheva V, Zumbrunn T, Rubino-Nacht D, Bonati U, Fischer D, & Hafner P. (2017). Treatment with L-citrulline in patients with post-polio syndrome: Study protocol for a single-center, randomised, placebo-controlled, double-blind trial. Trials, 18(1), 116. https://doi.org/10.1186/s13063-017-1829-3

Chen X, Siebourg-Polster J, Wolf D, Czech C, Bonati U, Fischer D, Khwaja O, & Strahm M. (2017). Feasibility of using microsoft kinect to assess upper limb movement in type III Spinal muscular atrophy patients. PLoS ONE, 12(1), e0170472. https://doi.org/10.1371/journal.pone.0170472

Rasenack M, Décard BF, Schädelin S, Grimm A, Fischer D, & Hafner P. (2016). Ultrasonographic reference values for peripheral nerves and nerve roots in the normal population of children and adolescents: Study protocol for an observational-prospective trial (Patent No. 12). BMJ Open, 6(12), Article 12. https://doi.org/10.1136/bmjopen-2016-014662

Hafner P, Bonati U, Rubino D, Gocheva V, Zumbrunn T, Gueven N, & Fischer D. (2016). Treatment with l-citrulline and metformin in Duchenne muscular dystrophy: Study protocol for a single-centre, randomised, placebo-controlled trial. Trials, 17(1), 389. https://doi.org/10.1186/s13063-016-1503-1

Fischer, Dirk, Hafner, Patricia, Rubino, Daniela, Schmid, Maurice, Neuhaus, Cornelia, Jung, Hans, Bieri, Oliver, Haas, Tanja, Gloor, Monika, Fischmann, Arne, & Bonati, Ulrike. (2016). The 6-minute walk test, motor function measure and quantitative thigh muscle MRI in Becker muscular dystrophy: A cross-sectional study. Neuromuscular Disorders, 26(7), 414–422. https://doi.org/10.1016/j.nmd.2016.04.009

Fischer D, Bonati U, & Wattjes MP. (2016). Recent developments in muscle imaging of neuromuscular disorders. Current Opinion in Neurology, 29(5), 614–620. https://doi.org/10.1097/WCO.0000000000000364

Hafner, P., Bonati, U., Erne, B., Schmid, M., Rubino, D., Pohlman, U., Peters, T., Rutz, E., Frank, S., Neuhaus, C., Deuster, S., Gloor, M., Bieri, O., Fischmann, A., Sinnreich, M., Gueven, N., & Fischer, D. (2016). Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-Study. PLoS ONE, 11(1), e0147634. https://doi.org/10.1371/journal.pone.0147634

Décard, Bernhard F., Fladt, Joachim, Axer, Hubertus, Fischer, Dirk, & Grimm, Alexander. (2015). Nerve ultrasound in miller fisher variant of Guillain-Barré syndrome. Muscle and Nerve, 52(6), 1106–1110. https://doi.org/10.1002/mus.24753

Bonati, Ulrike, Schmid, Maurice, Hafner, Patricia, Haas, Tanja, Bieri, Oliver, Gloor, Monika, Fischmann, Arne, & Fischer, Dirk. (2015). Longitudinal 2-point dixon muscle magnetic resonance imaging in becker muscular dystrophy. Muscle and Nerve, 51(6), 918–921. https://doi.org/10.1002/mus.24629

Bonati, Ulrike, Hafner, Patricia, Schadelin, Sabine, Schmid, Maurice, Naduvilekoot Devasia, Arjith, Schroeder, Jonas, Zuesli, Stephanie, Pohlman, Urs, Neuhaus, Cornelia, Klein, Andrea, Sinnreich, Michael, Haas, Tanja, Gloor, Monika, Bieri, Oliver, Fischmann, Arne, & Fischer, Dirk. (2015). Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophy. Neuromuscular Disorders, 25(9), 85–679. https://doi.org/10.1016/j.nmd.2015.05.006

Petersen, Jens A., Kuntzer, Thierry, Fischer, Dirk, von der Hagen, Maja, Huebner, Angela, Kana, Veronika, Lobrinus, Johannes A., Kress, Wolfram, Rushing, Elisabeth J., Sinnreich, Michael, & Jung, Hans H. (2015). Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. BMC Neurology, 15, 182. https://doi.org/10.1186/s12883-015-0449-3

Martin F, Kana V, Mori AC, Fischer D, Parkin N, Boltshauser E, Rushing EJ, & Klein A. (2014). Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy. European Journal of Pediatrics, 173(12), 1691–1694. https://doi.org/10.1007/s00431-014-2314-6

Bonati U, Bechtel N, Heinimann K, Rutz E, Schneider J, Frank S, Weber P, & Fischer D. (2014). Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene. Neuromuscular Disorders, 24(6), 529–532. https://doi.org/10.1016/j.nmd.2014.02.004

Fischer D, Schabhüttl M, Wieland T, Windhager R, Strom TM, & Auer-Grumbach M. (2014). A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1 (Patent No. 7). Brain, 137(7), Article 7. https://doi.org/10.1093/brain/awu091

Hafner P, Bonati U, Fischmann A, Schneider J, Frank S, Morris-Rosendahl DJ, Dumea A, Heinimann K, & Fischer D. (2014). Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations. Neuromuscular Disorders, 24(4), 321–324. https://doi.org/10.1016/j.nmd.2014.01.009

Fischmann, Arne, & Fischer, Dirk. (2013). Neuromuscular imaging in muscular dystrophies and other muscle diseases. Imaging in Medicine, 5(3), 237–248. https://doi.org/10.2217/iim.13.26

Fischmann A, Hafner P, Gloor M, Schmid M, Klein A, Pohlman U, Waltz T, Gonzalez R, Haas T, Bieri O, & Fischer D. (2013). Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy. Journal of Neurology, 260(4), 969–974. https://doi.org/10.1007/s00415-012-6733-x

Auer-Grumbach M, Bode H, Pieber TR, Schabhüttl M, Fischer D, Seidl R, Graf E, Wieland T, Schuh R, Vacariu G, Grill F, Timmerman V, Strom TM, & Hornemann T. (2013). Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. European Journal of Medical Genetics, 56(5), 266–269. https://doi.org/10.1016/j.ejmg.2013.02.002

Gensicke H, & Fischer D. (2013). Response to Wakerley et al. letter: Surgery itself does not trigger Guillain-Barré syndrome (Patent No. 3). European Journal of Neurology, 20(3), Article 3. https://doi.org/10.1111/ene.12064

Fischer, Dirk. (2013). Introduction. In Neuromuscular Imaging: Vol. null (pp. 111–112). Springer New York. https://doi.org/10.1007/978-1-4614-6552-2_12

Fischer, Dirk, & Wattjes, Mike P. (2013). Introduction (p. 71). Springer New York. https://doi.org/10.1007/978-1-4614-6552-2_8

Kley, Rudolf Andre, & Fischer, Dirk. (2013). Diagnostic algorithms and differential diagnosis. In Neuromuscular Imaging: Vol. null (pp. 313–318). Springer New York. https://doi.org/10.1007/978-1-4614-6552-2_25

Peyer, Anne-Kathrin, Abicht, Angela, Heinimann, Karl, Sinnreich, Michael, & Fischer, Dirk. (2013). Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. Neuromuscular Disorders, 23(7), 4–571. https://doi.org/10.1016/j.nmd.2013.04.001

Quijano-Roy, Susana, Avila-Smirnow, Daniela, Carlier, Robert-Yves, Bevilacqua, Jorge A., Romero, Norma Beatriz, & Fischer, Dirk. (2013). Congenital myopathies. In Neuromuscular Imaging: Vol. null (pp. 147–176). Springer New York. https://doi.org/10.1007/978-1-4614-6552-2_15

Quijano-Roy, Susana, Avila-Smirnow, Daniela, Carlier, Robert-Yves, Wattjes, Mike P., & Fischer, Dirk. (2013). Motor neuron diseases. In Neuromuscular Imaging: Vol. null (pp. 375–388). Springer New York. https://doi.org/10.1007/978-1-4614-6552-2_29

Walter, Maggie C., & Fischer, Dirk. (2013). Limb girdle muscular dystrophies. In Neuromuscular Imaging: Vol. null (pp. 227–245). Springer New York. https://doi.org/10.1007/978-1-4614-6552-2_19

Wattjes, Mike P., & Fischer, Dirk. (2013). Neuromuscular imaging. In Neuromuscular Imaging: Vol. null. Springer New York. https://doi.org/10.1007/978-1-4614-6552-2

Wattjes, Mike P., & Fischer, Dirk. (2013). Normal aging muscle tissue. In Neuromuscular Imaging: Vol. null (pp. 101–107). Springer New York. https://doi.org/10.1007/978-1-4614-6552-2_11

Fischmann A, Kaspar S, Reinhardt J, Gloor M, Stippich C, & Fischer D. (2012). Exercise might bias skeletal-muscle fat fraction calculation from Dixon images. Neuromuscular Disorders, 22(SUPPL. 2), S107–10. https://doi.org/10.1016/j.nmd.2012.05.014

Fischmann A, Hafner P, Fasler S, Gloor M, Bieri O, Studler U, & Fischer D. (2012). Quantitative MRI can detect subclinical disease progression in muscular dystrophy. Journal of Neurology, 259(8), 1648–1654. https://doi.org/10.1007/s00415-011-6393-2

Filges I, Suda L, Weber P, Datta AN, Fischer D, Dill P, Glanzmann R, Benzing J, Hegi L, Wenzel F, Huber AR, Mori AC, Miny P, & Röthlisberger B. (2012). High resolution array in the clinical approach to chromosomal phenotypes. Gene, 495(2), 163–169. https://doi.org/10.1016/j.gene.2011.12.042

Gensicke, H, Datta, A N, Dill, P, Schindler, C, & Fischer, D. (2012). Increased incidence of Guillain-Barré syndrome after surgery. European Journal of Neurology, 19(9), 44–1239. https://doi.org/10.1111/j.1468-1331.2012.03730.x

Fischmann, Arne, Gloor, Monika, Fasler, Susanne, Haas, Tanja, Rodoni Wetzel, Rachele, Bieri, Oliver, Wetzel, Stephan, Heinimann, Karl, Scheffler, Klaus, & Fischer, Dirk. (2011). Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy. Journal of Neurology, 258(7), 40–1333. https://doi.org/10.1007/s00415-011-5937-9

Gloor, Monika, Fasler, Susanne, Fischmann, Arne, Haas, Tanja, Bieri, Oliver, Heinimann, Karl, Wetzel, Stephan G, Scheffler, Klaus, & Fischer, Dirk. (2011). Quantification of fat infiltration in oculopharyngeal muscular dystrophy : comparison of three MR imaging methods. Journal of Magnetic Resonance Imaging, 33(1), 10–203. https://doi.org/10.1002/jmri.22431

Hilbert, P, Frank, S, Raheem, O, Suominen, T, Penttilä, S, Udd, B, Fischer, D, & Fischer, D. (2011). Normal muscle MRI does not preclude increased connective tissue in muscle of recessive myotonia congenita. Acta Neurologica Scandinavica, 124(2), 146–7; author reply 148. https://doi.org/10.1111/j.1600-0404.2011.01486.x

Papi?, Lea, Fischer, Dirk, Trajanoski, Slave, Höftberger, Romana, Fischer, Carina, Ströbel, Thomas, Schmidt, Wolfgang M., Bittner, Reginald E., Schabhüttl, Maria, Gruber, Karin, Pieber, Thomas R., Janecke, Andreas R., & Auer-Grumbach, Michaela. (2011). SNP-array based whole genome homozygosity mapping : a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients. European Journal of Medical Genetics, 54(3), 9–214. https://doi.org/10.1016/j.ejmg.2010.12.003

Quijano-Roy, Susana, Carlier, Robert Y, & Fischer, Dirk. (2011). Muscle imaging in congenital myopathies. Seminars in Pediatric Neurology, 18(4), 9–221. https://doi.org/10.1016/j.spen.2011.10.003

Treves, S., Vukcevic, M., Jeannet, P. Y., Levano, S., Girard, T., Urwyler, A., Fischer, D., Voit, T., Jungbluth, H., Lillis, S., Muntoni, F., Quinlivan, R., Sarkozy, A., Bushby, K., & Zorzato, F. (2011). Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. Human Molecular Genetics, 20(3), 589–600. https://doi.org/10.1093/hmg/ddq506

Ullrich, N. D., Fischer, D., Kornblum, C., Walter, M. C., Niggli, E., Zorzato, F., & Treves, S. (2011). Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle. Human Mutation, 32(3), 17–309. https://doi.org/10.1002/humu.21431

Escher, Claudia, Lochmüller, Hanns, Fischer, Dirk, Frank, Stephan, Reimann, Jens, Walter, Maggie C., Ehrat, Markus, Ruegg, Markus A., & Gygax, Daniel. (2010). Reverse protein arrays as novel approach for protein quantification in muscular dystrophies. Neuromuscular disorders, 20(5), 9–302. https://doi.org/10.1016/j.nmd.2010.02.017

Kennerson, Marina L, Nicholson, Garth A, Kaler, Stephen G, Kowalski, Bartosz, Mercer, Julian F B, Tang, Jingrong, Llanos, Roxana M, Chu, Shannon, Takata, Reinaldo I, Speck-Martins, Carlos E, Baets, Jonathan, Almeida-Souza, Leonardo, Fischer, Dirk, Timmerman, Vincent, Taylor, Philip E, Scherer, Steven S, Ferguson, Toby A, Bird, Thomas D, De Jonghe, Peter, et al. (2010). Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. American Journal of Human Genetics, 86(3), 52–343. https://doi.org/10.1016/j.ajhg.2010.01.027

Wattjes, Mike P, Kley, Rudolf A, & Fischer, Dirk. (2010). Neuromuscular imaging in inherited muscle diseases. European Radiology, 20(10), 60–2447. https://doi.org/10.1007/s00330-010-1799-2

Clemen, Christoph S, Fischer, Dirk, Reimann, Jens, Eichinger, Ludwig, Müller, Clemens R, Müller, Harald D, Goebel, Hans H, & Schröder, Rolf. (2009). How much mutant protein is needed to cause a protein aggregate myopathy in vivo? : Lessons from an exceptional desminopathy. Human Mutation : Variations, Databases, and Diseases, 30(3), E490–9. https://doi.org/10.1002/humu.20941

Dierick, Ines, Baets, Jonathan, Irobi, Joy, Jacobs, An, De Vriendt, Els, Deconinck, Tine, Merlini, Luciano, Van den Bergh, Peter, Rasic, Vedrana Milic, Robberecht, Wim, Fischer, Dirk, Morales, Raul Juntas, Mitrovic, Zoran, Seeman, Pavel, Mazanec, Radim, Kochanski, Andrzej, Jordanova, Albena, Auer-Grumbach, Michaela, Helderman-van den Enden, A T J M, et al. (2008). Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies : a genotype-phenotype correlation study. Brain, 131(Pt 5), 27–1217. https://doi.org/10.1093/brain/awn029

Fischer, D., Kley, R. A., Strach, K., Meyer, C., Sommer, T., Eger, K., Rolfs, A., Meyer, W., Pou, A., Pradas, J., Heyer, C. M., Grossmann, A., Huebner, A., Kress, W., Reimann, J., Schröder, R., Eymard, B., Fardeau, M., Udd, B., et al. (2008). Distinct muscle imaging patterns in myofibrillar myopathies. Neurology, 71(10), 65–758. https://doi.org/10.1212/01.wnl.0000324927.28817.9b

Jeub, M., Bitoun, M., Guicheney, P., Kappes-Horn, K., Strach, K., Druschky, K. F., Weis, J., & Fischer, D. (2008). Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature. Clinical Neuropathology, 27(6), 8–430. https://doi.org/10.5414/npp27430

Strach, Katharina, Sommer, Torsten, Grohé, Christian, Meyer, Carsten, Fischer, Dirk, Walter, Maggie C, Vorgerd, Matthias, Reilich, Peter, Bär, Harald, Reimann, Jens, Reuner, Ulrike, Germing, Alfried, Goebel, Hans Hilmar, Lochmüller, Hanns, Wintersperger, Bernd, & Schröder, Rolf. (2008). Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies. Neuromuscular Disorders, 18(6), 82–475. https://doi.org/10.1016/j.nmd.2008.03.012

Olivé M, Armstrong J, Miralles F, Pou A, Fardeau M, Gonzalez L, Martínez F, Fischer D, Martínez Matos JA, Shatunov A, Goldfarb L, & Ferrer I. (2007). Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene. Neuromuscular Disorders, 17(6), 443–450. https://doi.org/10.1016/j.nmd.2007.02.009

Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, et al. (2007). Clinical and morphological phenotype of the filamin myopathy: A study of 31 German patients. Brain, 130(12), 3250–3264. https://doi.org/10.1093/brain/awm271

Fischer D, Clemen CS, Olivé M, Ferrer I, Goudeau B, Roth U, Badorf P, Wattjes MP, Lutterbey G, Kral T, van der Ven PF, Fürst DO, Vicart P, Goldfarb LG, Moza M, Carpen O, Reichelt J, & Schröder R. (2006). Different early pathogenesis in myotilinopathy compared to primary desminopathy. Neuromuscular Disorders, 16(6), 361–367. https://doi.org/10.1016/j.nmd.2006.03.007

Fischer D, Herasse M, Bitoun M, Barragán-Campos HM, Chiras J, Laforêt P, Fardeau M, Eymard B, Guicheney P, & Romero NB. (2006). Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain, 129(6), 1463–1469. https://doi.org/10.1093/brain/awl071

Goudeau B, Rodrigues-Lima F, Fischer D, Casteras-Simon M, Sambuughin N, de Visser M, Laforet P, Ferrer X, Chapon F, Sjöberg G, Kostareva A, Sejersen T, Dalakas MC, Goldfarb LG, & Vicart P. (2006). Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. Human Mutation, 27(9), 906–913. https://doi.org/10.1002/humu.20351

Olivé M, Goldfarb LG, Shatunov A, Fischer D, & Ferrer I. (2005). Myotilinopathy: Refining the clinical and myopathological phenotype. Brain, 128(10), 2315–2326. https://doi.org/10.1093/brain/awh576

Clemen CS, Fischer D, Roth U, Simon S, Vicart P, Kato K, Kaminska AM, Vorgerd M, Goldfarb LG, Eymard B, Romero NB, Goudeau B, Eggermann T, Zerres K, Noegel AA, & Schröder R. (2005). Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. FEBS Letters, 579(17), 3777–3782. https://doi.org/10.1016/j.febslet.2005.05.051

Bär H, Fischer D, Goudeau B, Kley RA, Clemen CS, Vicart P, Herrmann H, Vorgerd M, & Schröder R. (2005). Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. Human Molecular Genetics, 14(10), 1251–1260. https://doi.org/10.1093/hmg/ddi136

Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmüller H, Wilhelm K, Urbach H, & Schröder R. (2005). Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. Journal of Neurology, 252(5), 538–547. https://doi.org/10.1007/s00415-005-0684-4

Fischer D, Grothe C, Schmidt S, & Schröder R. (2004). On the early diagnosis of IVIg-responsive chronic multifocal acquired motor axonopathy. Journal of Neurology, 251(10), 1204–1207. https://doi.org/10.1007/s00415-004-0507-z

Fischer D, Aurino S, Nigro V, & Schröder R. (2003). On Symptomatic Heterozygous Alpha-Sarcoglycan Gene Mutation Carriers. Annals of Neurology, 54(5), 674–678. https://doi.org/10.1002/ana.10738

Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schöneborn S, Zerres K, van der Ven PF, Fürst DO, Kunz WS, & Vicart P. (2003). On noxious desmin: Functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Human Molecular Genetics, 12(6), 657–669. https://doi.org/10.1093/hmg/ddg060