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Expect the unexpected: favourable outcome in Munchausen by proxy syndrome.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Acute liver failure associated with Coxsackie virus B2 infection in a neonate.
- Published in:
- 2004
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- Publication type:
- journal article
Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro.
- Published in:
- European Journal of Pediatrics, 2003, v. 162, n. 2, p. 84, doi. 10.1007/s00431-002-1112-8
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- Publication type:
- Article
Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a review.
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- European Journal of Pediatrics, 2002, v. 161, n. 6, p. 295, doi. 10.1007/s00431-002-0939-3
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- Publication type:
- Article
Rescue of cardiomyopathy through U7sn RNA-mediated exon skipping in Mybpc3-targeted knock-in mice.
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- EMBO Molecular Medicine, 2013, v. 5, n. 7, p. 1060, doi. 10.1002/emmm.201202168
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- Publication type:
- Article
Effect of Fluid Intake on Acute Changes in Plasma Volume: A Randomized Controlled Crossover Pilot Trial.
- Published in:
- Metabolites (2218-1989), 2024, v. 14, n. 5, p. 263, doi. 10.3390/metabo14050263
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- Publication type:
- Article
Acute Fluid Intake Impacts Assessment of Body Composition via Bioelectrical Impedance Analysis. A Randomized, Controlled Crossover Pilot Trial.
- Published in:
- Metabolites (2218-1989), 2023, v. 13, n. 4, p. 473, doi. 10.3390/metabo13040473
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- Publication type:
- Article
CellWhere: graphical display of interaction networks organized on subcellular localizations.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. W1, p. W571, doi. 10.1093/nar/gkv354
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- Publication type:
- Article
Dystrophin rescue by trans-splicing: a strategy for DMD genotypes not eligible for exon skipping approaches.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 17, p. 8391, doi. 10.1093/nar/gkt621
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- Publication type:
- Article
Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers.
- Published in:
- Nature Medicine, 2015, v. 21, n. 3, p. 270, doi. 10.1038/nm.3765
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- Publication type:
- Article
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 5, p. 575, doi. 10.1038/ng.2252
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- Publication type:
- Article
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
- Published in:
- Nature Genetics, 2008, v. 40, n. 9, p. 1113, doi. 10.1038/ng.204
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- Publication type:
- Article
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy.
- Published in:
- Pediatric Pulmonology, 2017, v. 52, n. 4, p. 508, doi. 10.1002/ppul.23547
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- Publication type:
- Article
IPPB‐assisted coughing in neuromuscular disordersCompeting interests statement: the authors declare no competing interests.This work was presented as poster at the World Muscle Society meeting in Göteborg, Sweden, September 2004.
- Published in:
- Pediatric Pulmonology, 2006, v. 41, n. 6, p. 551
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- Publication type:
- Article
Effects of light‐intensity physical activity on cardiometabolic parameters in young adults with overweight and obesity: The SED‐ACT randomized controlled crossover trial.
- Published in:
- Diabetes, Obesity & Metabolism, 2024, v. 26, n. 9, p. 3849, doi. 10.1111/dom.15732
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- Publication type:
- Article
Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines.
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- Skeletal Muscle, 2016, v. 6, p. 1, doi. 10.1186/s13395-016-0115-5
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- Publication type:
- Article
CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy.
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- Skeletal Muscle, 2015, v. 5, p. 1, doi. 10.1186/s13395-015-0066-2
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- Publication type:
- Article
Upper Limb Evaluation and One-Year Follow Up of Non-Ambulant Patients with Spinal Muscular Atrophy: An Observational Multicenter Trial.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0121799
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- Publication type:
- Article
A Single Intravenous AAV9 Injection Mediates Bilateral Gene Transfer to the Adult Mouse Retina.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061618
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- Publication type:
- Article
Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055281
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- Publication type:
- Article
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 4, p. 477, doi. 10.1002/mus.24332
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- Publication type:
- Article
Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.
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- Muscle & Nerve, 2007, v. 35, n. 3, p. 396, doi. 10.1002/mus.20705
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- Publication type:
- Article
Focal myopathy induced by chronic heroin injection is reversible.
- Published in:
- 2000
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- Publication type:
- journal article
Quantitative NMRI and NMRS identify augmented disease progression after loss of ambulation in forearms of boys with Duchenne muscular dystrophy.
- Published in:
- NMR in Biomedicine, 2015, v. 28, n. 9, p. 1150, doi. 10.1002/nbm.3352
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- Publication type:
- Article
Manual segmentation of individual muscles of the quadriceps femoris using MRI: A reappraisal.
- Published in:
- Journal of Magnetic Resonance Imaging, 2014, v. 40, n. 1, p. 239, doi. 10.1002/jmri.24370
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- Publication type:
- Article
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
- Published in:
- Human Genetics, 2007, v. 121, n. 6, p. 685, doi. 10.1007/s00439-007-0362-y
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- Publication type:
- Article
Effects of Interrupting Prolonged Sitting with Light-Intensity Physical Activity on Inflammatory and Cardiometabolic Risk Markers in Young Adults with Overweight and Obesity: Secondary Outcome Analyses of the SED-ACT Randomized Controlled Crossover Trial.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 8, p. 1029, doi. 10.3390/biom14081029
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- Publication type:
- Article
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.
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- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1055, doi. 10.1038/ejhg.2008.60
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- Publication type:
- Article
Defective protein glycosylation in patients with cutis laxa syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 414, doi. 10.1038/sj.ejhg.5201361
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- Publication type:
- Article
DHPR α1S subunit controls skeletal muscle mass and morphogenesis.
- Published in:
- EMBO Journal, 2010, v. 29, n. 3, p. 643, doi. 10.1038/emboj.2009.366
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- Publication type:
- Article
Nächtliche nichtinvasive Beatmung bei Kindern und Jugendlichen mit neuromuskulären Erkrankungen:Einfluss auf Schlaf und Symptome.
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- Wiener Klinische Wochenschrift, 2003, v. 115, n. 24, p. 855, doi. 10.1007/BF03040405
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- Publication type:
- Article
Repair of Rhodopsin mRNA by Spliceosome-Mediated RNA Trans-Splicing: A New Approach for Autosomal Dominant Retinitis Pigmentosa.
- Published in:
- Molecular Therapy, 2015, v. 23, n. 5, p. 918, doi. 10.1038/mt.2015.11
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- Publication type:
- Article
AAV Genome Loss From Dystrophic Mouse Muscles During AAV-U7 snRNA-mediated Exon-skipping Therapy.
- Published in:
- Molecular Therapy, 2013, v. 21, n. 8, p. 1551, doi. 10.1038/mt.2013.121
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- Publication type:
- Article
Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 11, p. 2120, doi. 10.1038/mt.2012.181
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- Publication type:
- Article
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.
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- Brain: A Journal of Neurology, 2010, v. 133, n. 7, p. 2123, doi. 10.1093/brain/awq108
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- Publication type:
- Article
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
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- Acta Neuropathologica, 2009, v. 117, n. 3, p. 293, doi. 10.1007/s00401-008-0479-7
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- Publication type:
- Article
Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice.
- Published in:
- Nature Communications, 2014, v. 5, n. 12, p. 5515, doi. 10.1038/ncomms6515
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- Publication type:
- Article
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
- Published in:
- 2020
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- Publication type:
- journal article
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
- Published in:
- Annals of Neurology, 2010, v. 67, n. 1, p. 136, doi. 10.1002/ana.21839
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- Publication type:
- Article
Cardiac and respiratory failure in limb‐girdle muscular dystrophy 2I.
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- Annals of Neurology, 2004, v. 56, n. 5, p. 738
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- Publication type:
- Article
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 4, p. 537
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- Publication type:
- Article
Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 5, p. 596
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- Publication type:
- Article
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
- Published in:
- Annals of Neurology, 2002, v. 51, n. 6, p. 750, doi. 10.1002/ana.10231
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- Publication type:
- Article
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
- Published in:
- Annals of Neurology, 2002, v. 51, n. 6, p. 709, doi. 10.1002/ana.10213
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- Publication type:
- Article
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 7, p. 2022, doi. 10.1007/s00415-020-09800-9
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- Publication type:
- Article
Antisense pre-treatment increases gene therapy efficacy in dystrophic muscles.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 16, p. 3555, doi. 10.1093/hmg/ddw201
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- Publication type:
- Article
Antisense targeting of 30 end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for facioscapulohumeral dystrophy: a new gene-silencing approach.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 8, p. 1468, doi. 10.1093/hmg/ddw015
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- Publication type:
- Article
Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4916, doi. 10.1093/hmg/ddv214
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- Publication type:
- Article
Variable phenotype of del45-55 Becker patients correlated with nNOSµ mislocalization and RYR1 hypernitrosylation.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 15, p. 3449, doi. 10.1093/hmg/dds176
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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. 10, p. 2079, doi. 10.1093/hmg/ddr083
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- Publication type:
- Article