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Reliable and fast volumetry of the lumbar spinal cord using cord image analyser (Cordial).
- Published in:
- 2018
- By:
- Publication type:
- journal article
Neuromuscular imaging in inherited muscle diseases.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Health-related quality of life, self-reported impairments and activities of daily living in relation to muscle function in post-polio syndrome.
- Published in:
- Journal of Patient-Reported Outcomes, 2020, v. 4, n. 1, p. 1, doi. 10.1186/s41687-020-00226-5
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- Publication type:
- Article
Mechanical characterization of rose bengal and green light crosslinked collagen scaffolds for regenerative medicine.
- Published in:
- Regenerative Biomaterials, 2021, v. 8, n. 6, p. 1, doi. 10.1093/rb/rbab059
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- Publication type:
- Article
Tamoxifen may contribute to preserve cardiac function in Duchenne muscular dystrophy.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 9, p. 4057, doi. 10.1007/s00431-024-05670-9
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- Publication type:
- Article
Potential Protective Mechanisms of Ketone Bodies in Migraine Prevention.
- Published in:
- Nutrients, 2019, v. 11, n. 4, p. 811, doi. 10.3390/nu11040811
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- Publication type:
- Article
BUILDABONG: A Framework for Architecture/Compiler Co-Exploration for ASIPs.
- Published in:
- Journal of Circuits, Systems & Computers, 2003, v. 12, n. 3, p. 353, doi. 10.1142/S0218126603000799
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- Publication type:
- Article
Association Between Health-Related Quality of Life and Motor Function in Ambulant and Nonambulant Duchenne Muscular Dystrophy Patients.
- Published in:
- Journal of Child Neurology, 2019, v. 34, n. 14, p. 873, doi. 10.1177/0883073819865681
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- Publication type:
- Article
Synthesis of 1,3,4-Trisubstituted Isoquinolines by Iodine-Mediated Electrophilic Cyclization of 2-Alkynyl Benzyl Azides.
- Published in:
- Angewandte Chemie International Edition, 2007, v. 46, n. 25, p. 4764, doi. 10.1002/anie.200701392
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- Publication type:
- Article
Quantification of fat infiltration in oculopharyngeal muscular dystrophy: Comparison of three MR imaging methods.
- Published in:
- Journal of Magnetic Resonance Imaging, 2011, v. 33, n. 1, p. 203, doi. 10.1002/jmri.22431
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- Publication type:
- Article
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
- Published in:
- Molecules, 2022, v. 27, n. 12, p. 3850, doi. 10.3390/molecules27123850
- By:
- Publication type:
- Article
Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2079, doi. 10.1093/hmg/ddr083
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- Publication type:
- Article
Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 3, p. 589, doi. 10.1093/hmg/ddq506
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- Publication type:
- Article
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2989, doi. 10.1093/hmg/ddm269
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- Publication type:
- Article
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1251, doi. 10.1093/hmg/ddi136
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- Publication type:
- Article
Die Facebook-Fanpage - Effektive Gestaltung und kommunikationspolitische Wirkung.
- Published in:
- Marketing Review St. Gallen, 2012, v. 29, n. 4, p. 35, doi. 10.1365/s11621-012-0149-y
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- Publication type:
- Article
How Tracking of Electronic Money might Improve Financial Market Crisis Intervention.
- Published in:
- Management (18544223), 2017, v. 12, n. 4, p. 301, doi. 10.26493/1854-4231.12.301-316
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- Publication type:
- Article
Treatment with L-citrulline and metformin in Duchenne muscular dystrophy: study protocol for a single-centre, randomised, placebo-controlled trial.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Compact Radar Cross-Section Measurement Setup and Performance Evaluation.
- Published in:
- Advances in Radio Science, 2021, v. 19, p. 147, doi. 10.5194/ars-19-147-2021
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- Publication type:
- Article
Highly Active Silica Gel-Supported Metathesis (Pre)Catalysts.
- Published in:
- Advanced Synthesis & Catalysis, 2005, v. 347, n. 10, p. 1329, doi. 10.1002/adsc.200505106
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- Publication type:
- Article
Expression, localization and functional divergence of αB-crystallin and heat shock protein 27 in core myopathies and neurogenic atrophy.
- Published in:
- Acta Neuropathologica, 2002, v. 104, n. 3, p. 297, doi. 10.1007/s00401-002-0559-z
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- Publication type:
- Article
Longitudinal characterization of biomarkers for spinal muscular atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 5, p. 292, doi. 10.1002/acn3.406
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- Publication type:
- Article
Metabolic markers of short and long-term exogenous DL-beta-hydroxybutyrate supplementation in episodic migraine patients: an exploratory analysis of a randomized-controlled-trial.
- Published in:
- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1172483
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- Publication type:
- Article
What Consumer Responses Make a Brand Experience Create Brand Attachment?
- Published in:
- Marketing ZFP - Journal of Research & Management, 2021, v. 43, n. 3, p. 35, doi. 10.15358/0344-1369-2021-3-35
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- Publication type:
- Article
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.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Tamoxifen in Duchenne muscular dystrophy (TAMDMD): study protocol for a multicenter, randomized, placebo-controlled, double-blind phase 3 trial.
- Published in:
- 2019
- By:
- Publication type:
- journal article
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 8, p. 4871, doi. 10.1007/s00415-024-12318-z
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- Publication type:
- Article
Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 10, p. 2053, doi. 10.1007/s00415-017-8547-3
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- Publication type:
- Article
Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 4, p. 969, doi. 10.1007/s00415-012-6733-x
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- Publication type:
- Article
Quantitative MRI can detect subclinical disease progression in muscular dystrophy.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 8, p. 1648, doi. 10.1007/s00415-011-6393-2
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- Publication type:
- Article
Stable isotope labelling in biosynthetic studies of dill ether, using enantioselective multidimensional gas chromatography, online coupled with isotope ratio mass spectrometry.
- Published in:
- Flavour & Fragrance Journal, 2000, v. 15, n. 5, p. 303, doi. 10.1002/1099-1026(200009/10)15:5<303::AID-FFJ912>3.0.CO;2-2
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- Publication type:
- Article
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Effects of Long‐Term Exposure of Intermediate Frequency Magnetic Fields (20 kHz, 360 µT) on the Development, Pathological Findings, and Behavior of Female Mice.
- Published in:
- Bioelectromagnetics, 2021, v. 42, n. 4, p. 309, doi. 10.1002/bem.22337
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- Publication type:
- Article
A proposal for a simple average-based progressive taxation system.
- Published in:
- Public Sector Economics (2459-8860), 2019, v. 43, n. 2, p. 141, doi. 10.3326/pse.43.2.2
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- Publication type:
- Article
International Standards and ICT Projects in Public Administration: Introducing Electronic Voting in Norway, Estonia and Switzerland Compared.
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- Halduskultuur - The Estonian Journal of Administrative Culture & Digital Governance, 2019, v. 19, n. 2, p. 8, doi. 10.32994/hk.v19i2.215
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- Publication type:
- Article
Mitochondrial function and oxidative stress markers in higher-frequency episodic migraine.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-84102-2
- By:
- Publication type:
- Article
Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1691, doi. 10.1007/s00431-014-2314-6
- By:
- Publication type:
- Article
Feasibility of Using Microsoft Kinect to Assess Upper Limb Movement in Type III Spinal Muscular Atrophy Patients.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170472
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- Publication type:
- Article
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E490, doi. 10.1002/humu.20941
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- Publication type:
- Article
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
- Published in:
- Human Mutation, 2006, v. 27, n. 9, p. 906, doi. 10.1002/humu.20351
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- Publication type:
- Article
Defining metabolic migraine with a distinct subgroup of patients with suboptimal inflammatory and metabolic markers.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-28499-y
- By:
- Publication type:
- Article
Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
- Published in:
- Neurology & Therapy, 2023, v. 12, n. 5, p. 1799, doi. 10.1007/s40120-023-00503-7
- By:
- Publication type:
- Article
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
- Published in:
- Neurology & Therapy, 2023, v. 12, n. 2, p. 543, doi. 10.1007/s40120-023-00444-1
- By:
- Publication type:
- Article
Treatment with L-citrulline in patients with post-polio syndrome: study protocol for a single-center, randomised, placebo-controlled, double-blind trial.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 7, p. e286, doi. 10.1093/brain/awu091
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- Publication type:
- Article
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 5, p. 1217
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- Publication type:
- Article
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 12, p. 3250, doi. 10.1093/brain/awm271
- By:
- Publication type:
- Article
Reply to: Myopathic (not neuropathic) electrophysiologic abnormalities in dynamin 2-related centronuclear myopathy.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 2, p. e64, doi. 10.1093/brain/awl312
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- Publication type:
- Article
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 6, p. 1463, doi. 10.1093/brain/awl071
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- Publication type:
- Article
Myotilinopathy: refining the clinical and myopathological phenotype.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 10, p. 2315, doi. 10.1093/brain/awh576
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- Publication type:
- Article