Found: 150
Select item for more details and to access through your institution.
Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1451512
- By:
- Publication type:
- Article
Clinical and Ultrasonic Long-Term Results of Percutaneous Transluminal Carotid Angioplasty.
- Published in:
- Cerebrovascular Diseases, 1998, v. 8, n. 1, p. 38, doi. 10.1159/000015813
- By:
- Publication type:
- Article
Efficacy of functional electrical stimulation in rehabilitating patients with foot drop symptoms after stroke and its correlation with somatosensory evoked potentials—a crossover randomised controlled trial.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 4, p. 1301, doi. 10.1007/s10072-022-06561-3
- By:
- Publication type:
- Article
Long-term whole-body vibration training in two late-onset Pompe disease patients.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Interrelation between Sarcopenia and the Number of Motor Neurons in Patients with Parkinsonian Syndromes.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Editorial: Beyond Borders: Myotonic Dystrophies–A European Perception.
- Published in:
- 2018
- By:
- Publication type:
- Editorial
Myotonic Dystrophy—A Progeroid Disease?
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00601
- By:
- Publication type:
- Article
Interleukin-12 is detectable in sera of patients with multiple sclerosis - association with chronic progressive disease course?
- Published in:
- European Journal of Neurology, 1999, v. 6, n. 5, p. 591, doi. 10.1046/j.1468-1331.1999.650591.x
- By:
- Publication type:
- Article
Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-160
- By:
- Publication type:
- Article
The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?
- Published in:
- 2013
- By:
- Publication type:
- journal article
Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. e111, doi. 10.1093/brain/awad216
- By:
- Publication type:
- Article
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1831, doi. 10.1093/brain/awac377
- By:
- Publication type:
- Article
IGF-I/IGFBP3/ALS Deficiency in Sarcopenia: Low GHBP Suggests GH Resistance in a Subgroup of Geriatric Patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Transcriptome Analysis in a Primary Human Muscle Cell Differentiation Model for Myotonic Dystrophy Type 1.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8607, doi. 10.3390/ijms22168607
- By:
- Publication type:
- Article
Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2642, doi. 10.3390/ijms21072642
- By:
- Publication type:
- Article
Degeneration of muscle spindles in a murine model of Pompe disease.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-33543-y
- By:
- Publication type:
- Article
Nuclear Small Dystrophin Isoforms during Muscle Differentiation.
- Published in:
- Life (2075-1729), 2023, v. 13, n. 6, p. 1367, doi. 10.3390/life13061367
- By:
- Publication type:
- Article
Isolation and Characterization of Primary DMD Pig Muscle Cells as an In Vitro Model for Preclinical Research on Duchenne Muscular Dystrophy.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 10, p. 1668, doi. 10.3390/life12101668
- By:
- Publication type:
- Article
Characterization of the neuropathic pain component contributing to myalgia in patients with myotonic dystrophy type 1 and 2.
- Published in:
- Frontiers in Neurology, 2024, p. 01, doi. 10.3389/fneur.2024.1414140
- By:
- Publication type:
- Article
Editorial: Implementing new technologies for neuromuscular disorders.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1370538
- By:
- Publication type:
- Article
Guideline for the management of myasthenic syndromes.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2023, p. 1, doi. 10.1177/17562864231213240
- By:
- Publication type:
- Article
Guideline for the management of myasthenic syndromes.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2023, v. 16, p. 1, doi. 10.1177/17562864231213240
- By:
- Publication type:
- Article
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 218, doi. 10.1038/90050
- By:
- Publication type:
- Article
Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Immunolocalization of tenascin-C in human type II fiber atrophy.
- Published in:
- Journal of Molecular Neuroscience, 1999, v. 13, n. 1/2, p. 167, doi. 10.1385/JMN:13:1-2:167
- By:
- Publication type:
- Article
Welche Therapieversuche sollten bei Einschlusskörpermyositis unternommen werden?
- Published in:
- Zeitschrift für Rheumatologie, 2021, v. 80, n. 4, p. 362, doi. 10.1007/s00393-021-00984-7
- By:
- Publication type:
- Article
Expertenempfehlung zur Magnetresonanztomographie bei Muskelerkrankungen.
- Published in:
- Die Radiologie, 2024, v. 64, n. 8, p. 653, doi. 10.1007/s00117-024-01276-2
- By:
- Publication type:
- Article
Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0308-5
- By:
- Publication type:
- Article
Time for a standardized diagnostic response test in patients with chronic inflammatory demyelinating polyradiculoneuropathy?
- Published in:
- Brain & Behavior, 2023, v. 13, n. 11, p. 1, doi. 10.1002/brb3.3256
- By:
- Publication type:
- Article
Long-Term Endurance Exercise in Humans Stimulates Cell Fusion of Myoblasts along with Fusogenic Endogenous Retroviral Genes In Vivo.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132099
- By:
- Publication type:
- Article
Four and a Half LIM Protein 1C (FHL1C): A Binding Partner for Voltage-Gated Potassium Channel K<sub>v1.5</sub>.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026524
- By:
- Publication type:
- Article
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
- Published in:
- 2019
- By:
- Publication type:
- journal article
The effect of methocarbamol and mexiletine on murine muscle spindle function.
- Published in:
- Muscle & Nerve, 2022, v. 66, n. 1, p. 96, doi. 10.1002/mus.27546
- By:
- Publication type:
- Article
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Amifampridine phosphate (Firdapse(®)) is effective and safe in a phase 3 clinical trial in LEMS.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and miyoshi type of muscular dystrophy.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 5, p. 740, doi. 10.1002/mus.23281
- By:
- Publication type:
- Article
Perceived pain and temporomandibular disorders in neuromuscular diseases.
- Published in:
- Muscle & Nerve, 2009, v. 40, n. 4, p. 595, doi. 10.1002/mus.21309
- By:
- Publication type:
- Article
A large german kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.
- Published in:
- Muscle & Nerve, 2007, v. 35, n. 5, p. 599, doi. 10.1002/mus.20733
- By:
- Publication type:
- Article
Muscle pathology in 57 patients with myotonic dystrophy type 2.
- Published in:
- Muscle & Nerve, 2004, v. 29, n. 2, p. 275, doi. 10.1002/mus.10545
- By:
- Publication type:
- Article
Cell death and apoptosis-related proteins in muscle biopsies of sporadic amyotrophic lateral sclerosis and polyneuropathy.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Novel Pompe disease phenotype: a treatment-related modified phenotype neglecting the brain.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 7, p. 1108, doi. 10.1007/s00415-010-5471-1
- By:
- Publication type:
- Article
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 1, p. 91, doi. 10.1007/s00415-009-5275-3
- By:
- Publication type:
- Article
High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 11, p. 1731, doi. 10.1007/s00415-008-0010-z
- By:
- Publication type:
- Article
Patient-specific protein aggregates in myofibrillar myopathies: Laser microdissection and differential proteomics for identification of plaque components.
- Published in:
- Proteomics, 2012, v. 12, n. 23/24, p. 3598, doi. 10.1002/pmic.201100559
- By:
- Publication type:
- Article
Beyond mean value analysis – a voxel‐based analysis of the quantitative MR biomarker water T<sub>2</sub> in the presence of fatty infiltration in skeletal muscle tissue of patients with neuromuscular diseases.
- Published in:
- NMR in Biomedicine, 2022, v. 35, n. 12, p. 1, doi. 10.1002/nbm.4805
- By:
- Publication type:
- Article
Decreased water T<sub>2</sub> in fatty infiltrated skeletal muscles of patients with neuromuscular diseases.
- Published in:
- NMR in Biomedicine, 2019, v. 32, n. 8, p. N.PAG, doi. 10.1002/nbm.4111
- By:
- Publication type:
- Article
Water T<sub>2</sub> Mapping in Fatty Infiltrated Thigh Muscles of Patients With Neuromuscular Diseases Using a T<sub>2</sub> -Prepared 3D Turbo Spin Echo With SPAIR.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Expertenempfehlung zur Magnetresonanztomographie bei Muskelerkrankungen.
- Published in:
- Der Nervenarzt, 2024, v. 95, n. 8, p. 721, doi. 10.1007/s00115-024-01673-x
- By:
- Publication type:
- Article