[FG] Fischer Dirk

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Putananickal N. et al. (2021) ‘Treatment with L‐Citrulline in patients with post‐polio syndrome: A single center, randomized, double blind, placebo‐controlled trial’, Neuromuscular Disorders, 31(11), pp. 1136–1143. Available at: https://doi.org/10.1016/j.nmd.2021.08.011.

Kourakis S. et al. (2021) ‘Targeting Nrf2 for the treatment of Duchenne Muscular Dystrophy’, Redox Biology, 38. Available at: https://doi.org/10.1016/j.redox.2020.101803.

Gocheva V et al. (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), p. 59. Available at: https://doi.org/10.1186/s41687-020-00226-5.

Kourakis S et al. (2020) ‘Dimethyl fumarate and its esters: A drug with broad clinical utility?’, Pharmaceuticals, 13(10), pp. 1–15. Available at: https://doi.org/10.3390/ph13100306.

Gocheva V et al. (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), pp. 873–885. Available at: https://doi.org/10.1177/0883073819865681.

Nagy S et al. (2019) ‘Tamoxifen in Duchenne muscular dystrophy (TAMDMD): Study protocol for a multicenter, randomized, placebo-controlled, double-blind phase 3 trial’, Trials, 20(1), p. 637. Available at: https://doi.org/10.1186/s13063-019-3740-6.

Gocheva V et al. (2019) ‘Psychosocial adjustment and parental stress in Duchenne Muscular Dystrophy’, European Journal of Paediatric Neurology, 23(6), pp. 832–841. Available at: https://doi.org/10.1016/j.ejpn.2019.09.008.

Gross EC et al. (2019) ‘The metabolic face of migraine — from pathophysiology to treatment’, Nature Reviews Neurology, 15(11), pp. 627–643. Available at: https://doi.org/10.1038/s41582-019-0255-4.

Hafner P et al. (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), p. e1914171. Available at: https://doi.org/10.1001/jamanetworkopen.2019.14171.

Gross EC et al. (2019) ‘Potential protective mechanisms of ketone bodies in migraine prevention’, Nutrients, 11(4). Available at: https://doi.org/10.3390/nu11040811.

Gross E et al. (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), p. 61. Available at: https://doi.org/10.1186/s13063-018-3120-7.

Fischer, Dirk, Bonati, Ulrike and Wattjes, Mike P. (2019) ‘Muscle MRI as an Endpoint in Clinical Trials’. Springer International Publishing, pp. 699–708. Available at: https://doi.org/10.1007/978-3-030-03095-7_40.

Kletzl H et al. (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. 30.10.2018, 29(1), pp. 21–29. Available at: https://doi.org/10.1016/j.nmd.2018.10.001.

Nagy S et al. (2019) ‘Measurements of motor function and other clinical outcome parameters in ambulant children with duchenne muscular dystrophy’, Journal of Visualized Experiments, 2019(143). Available at: https://doi.org/10.3791/58784.

Tsagkas C et al. (2018) ‘Reliable and fast volumetry of the lumbar spinal cord using cord image analyser (Cordial).’, European radiology, 28(11), pp. 4488–4495. Available at: https://doi.org/10.1007/s00330-018-5431-1.

Hanff E et al. (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. 12.07.2018, 50(10), pp. 1391–1406. Available at: https://doi.org/10.1007/s00726-018-2614-7.

Chen X et al. (2018) ‘An Objective and Child-friendly Assessment of Arm Function by Using a 3-D Sensor.’, (132). Available at: https://doi.org/10.3791/57014.

Schmidt S et al. (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 : NMD. 21.11.2017, 28(1), pp. 16–23. Available at: https://doi.org/10.1016/j.nmd.2017.10.003.

Tsagkas, Charidimos et al. (2018) ‘Reliable and fast volumetry of the lumbar spinal cord using cord image analyser (Cordial).’, European Journal of Radiology. 30.04.2018, 28, pp. 4488–4495. Available at: https://doi.org/10.1007/s00330-018-5431-1.

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

Burakiewicz J et al. (2017) ‘Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy.’, Journal of neurology, 264(10), pp. 2053–2067. Available at: https://doi.org/10.1007/s00415-017-8547-3.

Chiriboga, C. et al. (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. Available at: https://doi.org/10.1016/j.nmd.2017.06.416.

Bonati U et al. (2017) ‘Longitudinal characterization of biomarkers for spinal muscular atrophy.’, Annals of clinical and translational neurology. 11.04.2017, 4(5), pp. 292–304. Available at: https://doi.org/10.1002/acn3.406.

Schmidt S et al. (2017) ‘Treatment with L-citrulline in patients with post-polio syndrome: study protocol for a single-center, randomised, placebo-controlled, double-blind trial.’, Trials. 09.03.2017, 18(1), p. 116. Available at: https://doi.org/10.1186/s13063-017-1829-3.

Chen X et al. (2017) ‘Feasibility of Using Microsoft Kinect to Assess Upper Limb Movement in Type III Spinal Muscular Atrophy Patients.’, PloS one. 25.01.2017, 12(1), p. e0170472. Available at: https://doi.org/10.1371/journal.pone.0170472.

Rasenack M et al. (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.’, 6(12). Available at: https://doi.org/10.1136/bmjopen-2016-014662.

Fischer D, Bonati U and Wattjes MP (2016) ‘Recent developments in muscle imaging of neuromuscular disorders.’, Current opinion in neurology, 29(5), pp. 614–20. Available at: https://doi.org/10.1097/wco.0000000000000364.

Hafner P et al. (2016) ‘Treatment with L-citrulline and metformin in Duchenne muscular dystrophy: study protocol for a single-centre, randomised, placebo-controlled trial.’, Trials, 17(1), p. 389. Available at: https://doi.org/10.1186/s13063-016-1503-1.

Fischer, Dirk et al. (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, pp. 414–422. Available at: https://doi.org/10.1016/j.nmd.2016.04.009.

Hafner, P. et al. (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), p. e0147634. Available at: https://doi.org/10.1371/journal.pone.0147634.

Bonati, Ulrike et al. (2015) ‘Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophy’, Neuromuscular Disorders, 25(9), pp. 679–85. Available at: https://doi.org/10.1016/j.nmd.2015.05.006.

Bonati, Ulrike et al. (2015) ‘Longitudinal 2-point dixon muscle magnetic resonance imaging in becker muscular dystrophy’, Muscle and Nerve, 51, pp. 918–921. Available at: https://doi.org/10.1002/mus.24629.

Décard, Bernhard F. et al. (2015) ‘Nerve ultrasound in miller fisher variant of Guillain-Barré syndrome’, Muscle and Nerve, 52, pp. 1106–1110. Available at: https://doi.org/10.1002/mus.24753.

Petersen, Jens A. et al. (2015) ‘Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects’, BMC Neurology, 15, p. 182. Available at: https://doi.org/10.1186/s12883-015-0449-3.

Martin F et al. (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. 08.04.2014, 173(12), pp. 1691–4. Available at: https://doi.org/10.1007/s00431-014-2314-6.

Fischer D et al. (2014) ‘A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.’, 137(Pt 7). Available at: https://doi.org/10.1093/brain/awu091.

Bonati U et al. (2014) ‘Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene.’, Neuromuscular disorders : NMD, 24(6), pp. 529–32. Available at: https://doi.org/10.1016/j.nmd.2014.02.004.

Hafner P et al. (2014) ‘Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.’, Neuromuscular disorders : NMD, 24(4), pp. 321–4. Available at: https://doi.org/10.1016/j.nmd.2014.01.009.

Auer-Grumbach M et al. (2013) ‘Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.’, European journal of medical genetics. 27.02.2013, 56(5), pp. 266–9. Available at: https://doi.org/10.1016/j.ejmg.2013.02.002.

Fischmann A et al. (2013) ‘Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy.’, Journal of neurology. 09.11.2012, 260(4), pp. 969–74. Available at: https://doi.org/10.1007/s00415-012-6733-x.

Gensicke H and Fischer D (2013) ‘Response to Wakerley et al. letter: Surgery itself does not trigger Guillain-Barré syndrome.’, 20(3). Available at: https://doi.org/10.1111/ene.12064.

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

Peyer, Anne-Kathrin et al. (2013) ‘Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome’, Neuromuscular disorders, 23(7), pp. 571–4. Available at: https://doi.org/10.1016/j.nmd.2013.04.001.

Wattjes, Mike P. and Fischer, Dirk (2013) Neuromuscular imaging. Available at: https://doi.org/10.1007/978-1-4614-6552-2.

Fischer, Dirk (2013) ‘Introduction’, pp. 111–112. Available at: https://doi.org/10.1007/978-1-4614-6552-2_12.

Kley, Rudolf Andre and Fischer, Dirk (2013) ‘Diagnostic algorithms and differential diagnosis’, pp. 313–318. Available at: https://doi.org/10.1007/978-1-4614-6552-2_25.

Quijano-Roy, Susana et al. (2013) ‘Congenital myopathies’, pp. 147–176. Available at: https://doi.org/10.1007/978-1-4614-6552-2_15.

Quijano-Roy, Susana et al. (2013) ‘Motor neuron diseases’, pp. 375–388. Available at: https://doi.org/10.1007/978-1-4614-6552-2_29.

Walter, Maggie C. and Fischer, Dirk (2013) ‘Limb girdle muscular dystrophies’, pp. 227–245. Available at: https://doi.org/10.1007/978-1-4614-6552-2_19.

Wattjes, Mike P. and Fischer, Dirk (2013) ‘Normal aging muscle tissue’, pp. 101–107. Available at: https://doi.org/10.1007/978-1-4614-6552-2_11.

Fischmann A et al. (2012) ‘Exercise might bias skeletal-muscle fat fraction calculation from Dixon images.’, Neuromuscular disorders : NMD, 22 Suppl 2, pp. S107–10. Available at: https://doi.org/10.1016/j.nmd.2012.05.014.

Fischmann A et al. (2012) ‘Quantitative MRI can detect subclinical disease progression in muscular dystrophy.’, Journal of neurology, 259(8), pp. 1648–54. Available at: https://doi.org/10.1007/s00415-011-6393-2.

Filges I et al. (2012) ‘High resolution array in the clinical approach to chromosomal phenotypes.’, Gene. 03.01.2012, 495(2), pp. 163–9. Available at: https://doi.org/10.1016/j.gene.2011.12.042.

Gensicke, H et al. (2012) ‘Increased incidence of Guillain-Barré syndrome after surgery’, European journal of neurology, 19(9), pp. 1239–44. Available at: https://doi.org/10.1111/j.1468-1331.2012.03730.x.

Fischmann, Arne et al. (2011) ‘Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy’, Journal of neurology, 258(7), pp. 1333–40. Available at: https://doi.org/10.1007/s00415-011-5937-9.

Gloor, Monika et al. (2011) ‘Quantification of fat infiltration in oculopharyngeal muscular dystrophy : comparison of three MR imaging methods’, Journal of magnetic resonance imaging, 33(1), pp. 203–10. Available at: https://doi.org/10.1002/jmri.22431.

Hilbert, P et al. (2011) ‘Normal muscle MRI does not preclude increased connective tissue in muscle of recessive myotonia congenita’, Acta neurologica scandinavica, 124(2), p. 146–7; author reply 148. Available at: https://doi.org/10.1111/j.1600-0404.2011.01486.x.

Papi?, Lea et al. (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), pp. 214–9. Available at: https://doi.org/10.1016/j.ejmg.2010.12.003.

Quijano-Roy, Susana, Carlier, Robert Y and Fischer, Dirk (2011) ‘Muscle imaging in congenital myopathies.’, Seminars in pediatric neurology, 18(4), pp. 221–9. Available at: https://doi.org/10.1016/j.spen.2011.10.003.

Treves, S. et al. (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), pp. 589–600. Available at: https://doi.org/10.1093/hmg/ddq506.

Ullrich, N. D. et al. (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), pp. 309–17. Available at: https://doi.org/10.1002/humu.21431.

Escher, Claudia et al. (2010) ‘Reverse protein arrays as novel approach for protein quantification in muscular dystrophies’, Neuromuscular disorders, 20(5), pp. 302–9. Available at: https://doi.org/10.1016/j.nmd.2010.02.017.

Kennerson, Marina L 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), pp. 343–52. Available at: https://doi.org/10.1016/j.ajhg.2010.01.027.

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

Clemen, Christoph S et al. (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), pp. E490–9. Available at: https://doi.org/10.1002/humu.20941.

Dierick, Ines 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), pp. 1217–27. Available at: https://doi.org/10.1093/brain/awn029.

Fischer, D. et al. (2008) ‘Distinct muscle imaging patterns in myofibrillar myopathies’, Neurology, 71(10), pp. 758–65. Available at: https://doi.org/10.1212/01.wnl.0000324927.28817.9b.

Jeub, M. et al. (2008) ‘Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature’, Clinical Neuropathology, 27(6), pp. 430–8. Available at: https://doi.org/10.5414/npp27430.

Strach, Katharina et al. (2008) ‘Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies’, Neuromuscular disorders, 18(6), pp. 475–82. Available at: https://doi.org/10.1016/j.nmd.2008.03.012.

Kley RA et al. (2007) ‘Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.’, Brain : a journal of neurology, 130(Pt 12), pp. 3250–64. Available at: https://doi.org/10.1093/brain/awm271.

Olivé M et al. (2007) ‘Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.’, Neuromuscular disorders : NMD. 05.04.2007, 17(6), pp. 443–50. Available at: https://doi.org/10.1016/j.nmd.2007.02.009.

Goudeau B et al. (2006) ‘Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.’, Human mutation, 27(9), pp. 906–13. Available at: https://doi.org/10.1002/humu.20351.

Fischer D et al. (2006) ‘Different early pathogenesis in myotilinopathy compared to primary desminopathy.’, Neuromuscular disorders : NMD. 08.05.2006, 16(6), pp. 361–7. Available at: https://doi.org/10.1016/j.nmd.2006.03.007.

Fischer D et al. (2006) ‘Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.’, Brain : a journal of neurology. 03.04.2006, 129(Pt 6), pp. 1463–9. Available at: https://doi.org/10.1093/brain/awl071.

Olivé M et al. (2005) ‘Myotilinopathy: refining the clinical and myopathological phenotype.’, Brain : a journal of neurology. 09.06.2005, 128(Pt 10), pp. 2315–26. Available at: https://doi.org/10.1093/brain/awh576.

Clemen CS et al. (2005) ‘Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies.’, FEBS letters, 579(17), pp. 3777–82. Available at: https://doi.org/10.1016/j.febslet.2005.05.051.

Bär H et al. (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. 30.03.2005, 14(10), pp. 1251–60. Available at: https://doi.org/10.1093/hmg/ddi136.

Fischer D et al. (2005) ‘Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.’, Journal of neurology. 23.02.2005, 252(5), pp. 538–47. Available at: https://doi.org/10.1007/s00415-005-0684-4.

Fischer D et al. (2004) ‘On the early diagnosis of IVIg-responsive chronic multifocal acquired motor axonopathy.’, Journal of neurology, 251(10), pp. 1204–7. Available at: https://doi.org/10.1007/s00415-004-0507-z.

Fischer D et al. (2003) ‘On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers.’, Annals of neurology, 54(5), pp. 674–8. Available at: https://doi.org/10.1002/ana.10738.

Schröder R et al. (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), pp. 657–69. Available at: https://doi.org/10.1093/hmg/ddg060.

Fischer, D et al. (2003) ‘Consequences of a novel caveolin-3 mutation in a large German family’, ANNALS OF NEUROLOGY. WOS.SCI, 53, pp. 233–241. Available at: https://doi.org/10.1002/ana.10442.

Fischer D and Schröder R (2002) ‘Granulomatous myositis associated with antithyroglobulin and antithyroid peroxidase antibodies: an analogy to Hashimoto’s encephalitis?’, 249(10). Available at: https://doi.org/10.1007/s00415-002-0814-1.

Fischer D et al. (2002) ‘Expression, localization and functional divergence of alphaB-crystallin and heat shock protein 27 in core myopathies and neurogenic atrophy.’, Acta neuropathologica. 08.06.2002, 104(3), pp. 297–304. Available at: https://doi.org/10.1007/s00401-002-0559-z.