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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Exertional rhabdomyolysis: Relevance of clinical and laboratory findings, and clues for investigation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Reversible orofacial dyskinesia after ofloxacin treatment.
- Published in:
- Movement Disorders, 2004, v. 19, n. 6, p. 731, doi. 10.1002/mds.20053
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- Publication type:
- Article
Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies.
- Published in:
- Journal of the Peripheral Nervous System, 2019, v. 24, n. 1, p. 48, doi. 10.1111/jns.12302
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- Publication type:
- Article
Minimum clinically important difference analysis confirms the efficacy of IgPro10 in CIDP: the PRIMA trial.
- Published in:
- Journal of the Peripheral Nervous System, 2017, v. 22, n. 2, p. 149, doi. 10.1111/jns.12204
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- Publication type:
- Article
Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 9, p. N.PAG, doi. 10.3390/cells11091508
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- Publication type:
- Article
Retrospective Study Shows That Serum Levels of Chemokine CXCL10 and Cytokine GDF15 Support a Diagnosis of Sporadic Inclusion Body Myositis and Immune-Mediated Necrotizing Myopathy.
- Published in:
- Brain Sciences (2076-3425), 2023, v. 13, n. 10, p. 1369, doi. 10.3390/brainsci13101369
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- Publication type:
- Article
Reversible Visual Deficit and Corpus callosum Lesions due to Metronidazole Toxicity.
- Published in:
- European Neurology, 2005, v. 53, n. 2, p. 93, doi. 10.1159/000085506
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- Publication type:
- Article
Myasthenia gravis and Sarcoidosis: Report of 2 Cases.
- Published in:
- European Neurology, 1996, v. 36, n. 5, p. 326, doi. 10.1159/000117284
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- Publication type:
- Article
Recommendations for the management of myasthenia gravis in Belgium.
- Published in:
- Acta Neurologica Belgica, 2024, v. 124, n. 4, p. 1371, doi. 10.1007/s13760-024-02552-7
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- Publication type:
- Article
A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium.
- Published in:
- Acta Neurologica Belgica, 2023, v. 123, n. 3, p. 1029, doi. 10.1007/s13760-023-02188-z
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- Publication type:
- Article
Myotonic dystrophy type 1 as a major risk factor for severe COVID-19?
- Published in:
- Acta Neurologica Belgica, 2021, v. 121, n. 6, p. 1761, doi. 10.1007/s13760-020-01514-z
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- Publication type:
- Article
Case report: Olanzapine post-injection delirium/sedation syndrome mimicking brainstem-thrombosis.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients.
- Published in:
- Acta Neurologica Belgica, 2021, v. 121, n. 4, p. 1019, doi. 10.1007/s13760-020-01559-0
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- Publication type:
- Article
Current evidence for treatment with nusinersen for spinal muscular atrophy: a systematic review.
- Published in:
- Acta Neurologica Belgica, 2019, v. 119, n. 4, p. 523, doi. 10.1007/s13760-019-01199-z
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- Publication type:
- Article
Two successfully completed pregnancies in adult onset Pompe disease, under continued treatment with alglucosidase alfa.
- Published in:
- Acta Neurologica Belgica, 2019, v. 119, n. 1, p. 147, doi. 10.1007/s13760-019-01089-4
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- Publication type:
- Article
Single-centre experience on transthyretin familial amyloid polyneuropathy: case series and literature review.
- Published in:
- Acta Neurologica Belgica, 2018, v. 118, n. 2, p. 179, doi. 10.1007/s13760-018-0906-z
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- Publication type:
- Article
Cytomegalovirus-induced myeloradiculopathy in an immunocompetent patient.
- Published in:
- Acta Neurologica Belgica, 2015, v. 115, n. 3, p. 493, doi. 10.1007/s13760-014-0342-7
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- Publication type:
- Article
Giant arachnoid granulation of the posterior temporal bone wall mimicking a jugular foramen mass.
- Published in:
- Acta Neurologica Belgica, 2015, v. 115, n. 3, p. 421, doi. 10.1007/s13760-014-0328-5
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- Publication type:
- Article
A Dual Role for HSP90 and HSP70 in the Inflammatory Myopathies.
- Published in:
- Annals of the New York Academy of Sciences, 2009, v. 1173, p. 463, doi. 10.1111/j.1749-6632.2009.04812.x
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- Publication type:
- Article
Distribution of the NF-κB Complex in the Inflammatory Exudates Characterizing the Idiopathic Inflammatory Myopathies.
- Published in:
- Annals of the New York Academy of Sciences, 2009, v. 1173, p. 370, doi. 10.1111/j.1749-6632.2009.04874.x
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- Publication type:
- Article
Chemokine Profile of Different Inflammatory Myopathies Reflects Humoral versus Cytotoxic Immune Responses.
- Published in:
- Annals of the New York Academy of Sciences, 2007, v. 1109, p. 441, doi. 10.1196/annals.1398.050
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- Publication type:
- Article
Comparison of clinical features between patients with anti-synthetase syndrome and dermatomyositis: results from the MYONET registry.
- Published in:
- Rheumatology, 2024, v. 63, n. 8, p. 2093, doi. 10.1093/rheumatology/kead481
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- Publication type:
- Article
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 2, p. 414, doi. 10.1093/brain/awad312
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- Publication type:
- Article
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3800, doi. 10.1093/brain/awad088
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- Publication type:
- Article
Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1624, doi. 10.1093/brain/awac362
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- Publication type:
- Article
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Exploring the Therapeutic Potential of Ectoine in Duchenne Muscular Dystrophy: Comparison with Taurine, a Supplement with Known Beneficial Effects in the mdx Mouse.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9567, doi. 10.3390/ijms23179567
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- Publication type:
- Article
Description of Osmolyte Pathways in Maturing Mdx Mice Reveals Altered Levels of Taurine and Sodium/Myo-Inositol Co-Transporters.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3251, doi. 10.3390/ijms23063251
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- Publication type:
- Article
Description of a Novel Mechanism Possibly Explaining the Antiproliferative Properties of Glucocorticoids in Duchenne Muscular Dystrophy Fibroblasts Based on Glucocorticoid Receptor GR and NFAT5.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 23, p. 9225, doi. 10.3390/ijms21239225
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- Publication type:
- Article
Abnormal NFAT5 Physiology in Duchenne Muscular Dystrophy Fibroblasts as a Putative Explanation for the Permanent Fibrosis Formation in Duchenne Muscular Dystrophy.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 7888, doi. 10.3390/ijms21217888
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- Publication type:
- Article
Anti-Inflammatory and General Glucocorticoid Physiology in Skeletal Muscles Affected by Duchenne Muscular Dystrophy: Exploration of Steroid-Sparing Agents.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 13, p. 4596, doi. 10.3390/ijms21134596
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- Publication type:
- Article
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
- Published in:
- Molecular Neurobiology, 2017, v. 54, n. 9, p. 7212, doi. 10.1007/s12035-016-0242-3
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- Publication type:
- Article
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
- Published in:
- Acta Neuropathologica, 2023, v. 145, n. 6, p. 793, doi. 10.1007/s00401-023-02565-1
- By:
- Publication type:
- Article
TNFα receptor genotype influences smoking-induced muscle-fibre-type shift and atrophy in mice.
- Published in:
- Acta Neuropathologica, 2008, v. 115, n. 6, p. 675, doi. 10.1007/s00401-008-0348-4
- By:
- Publication type:
- Article
Alpha-chemokine receptors CXCR1–3 and their ligands in idiopathic inflammatory myopathies.
- Published in:
- Acta Neuropathologica, 2005, v. 109, n. 6, p. 576, doi. 10.1007/s00401-005-0989-5
- By:
- Publication type:
- Article
Expression and distribution of the nitric oxide synthases in idiopathic inflammatory myopathies.
- Published in:
- Acta Neuropathologica, 2004, v. 108, n. 1, p. 37, doi. 10.1007/s00401-004-0859-6
- By:
- Publication type:
- Article
Consistent improvement with eculizumab across muscle groups in myasthenia gravis.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1327, doi. 10.1002/acn3.51121
- By:
- Publication type:
- Article
Letter to the editor.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. 2, p. 251, doi. 10.1002/mus.880180220
- By:
- Publication type:
- Article
Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome‐Wide Imputation.
- Published in:
- Arthritis & Rheumatology, 2023, v. 75, n. 6, p. 1021, doi. 10.1002/art.42434
- By:
- Publication type:
- Article
Localization and Expression of Nuclear Factor of Activated T-Cells 5 in Myoblasts Exposed to Pro-inflammatory Cytokines or Hyperosmolar Stress and in Biopsies from Myositis Patients.
- Published in:
- Frontiers in Physiology, 2018, p. 1, doi. 10.3389/fphys.2018.00126
- By:
- Publication type:
- Article
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
- Published in:
- Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
- By:
- Publication type:
- Article
Genomic characterization of the C9orf72 promoter repeat in FTLD and ALS patients
- Published in:
- 2012
- By:
- Publication type:
- Abstract
A rare case of adult-onset spastic paraparesis associated with Klinefelter syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
'Minimal symptom expression' in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 7, p. 1991, doi. 10.1007/s00415-020-09770-y
- By:
- Publication type:
- Article
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 12, p. 3093, doi. 10.1007/s00415-013-7124-7
- By:
- Publication type:
- Article
Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions.
- Published in:
- Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.815765
- By:
- Publication type:
- Article
Experiences with advance care planning in amyotrophic lateral sclerosis: Qualitative longitudinal study with people with amyotrophic lateral sclerosis and their family carers.
- Published in:
- Palliative Medicine, 2024, v. 38, n. 5, p. 572, doi. 10.1177/02692163241242320
- By:
- Publication type:
- Article
Myo-Inositol Transporter SLC5A3 Associates with Degenerative Changes and Inflammation in Sporadic Inclusion Body Myositis.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 4, p. 521, doi. 10.3390/biom10040521
- By:
- Publication type:
- Article
A Phase 3 Multicenter, Prospective, Open-Label Efficacy and Safety Study of Immune Globulin (Human) 10% Caprylate/Chromatography Purified in Patients with Myasthenia Gravis Exacerbations.
- Published in:
- European Neurology, 2019, v. 81, n. 5/6, p. 223, doi. 10.1159/000502818
- By:
- Publication type:
- Article