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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.
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- Biomolecules (2218-273X), 2024, v. 14, n. 8, p. 1029, doi. 10.3390/biom14081029
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- Article
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
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- 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 light‐intensity physical activity on cardiometabolic parameters in young adults with overweight and obesity: The SED‐ACT randomized controlled crossover trial.
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- Diabetes, Obesity & Metabolism, 2024, v. 26, n. 9, p. 3849, doi. 10.1111/dom.15732
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- Publication type:
- Article
Effects of Different Types of Intermittent Fasting Interventions on Metabolic Health in Healthy Individuals (EDIF): A Randomised Trial with a Controlled-Run in Phase.
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- Nutrients, 2024, v. 16, n. 8, p. 1114, doi. 10.3390/nu16081114
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- Article
Efficacy of Fasting in Type 1 and Type 2 Diabetes Mellitus: A Narrative Review.
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- Nutrients, 2023, v. 15, n. 16, p. 3525, doi. 10.3390/nu15163525
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- Article
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
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- Neurogenetics, 2015, v. 16, n. 1, p. 33, doi. 10.1007/s10048-014-0422-0
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- Article
Quantitative NMRI and NMRS identify augmented disease progression after loss of ambulation in forearms of boys with Duchenne muscular dystrophy.
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- NMR in Biomedicine, 2015, v. 28, n. 9, p. 1150, doi. 10.1002/nbm.3352
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- Article
Manual segmentation of individual muscles of the quadriceps femoris using MRI: A reappraisal.
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- Journal of Magnetic Resonance Imaging, 2014, v. 40, n. 1, p. 239, doi. 10.1002/jmri.24370
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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.
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- 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.
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- Molecular Therapy, 2013, v. 21, n. 8, p. 1551, doi. 10.1038/mt.2013.121
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- Publication type:
- Article
Variable phenotype of del45-55 Becker patients correlated with nNOSµ mislocalization and RYR1 hypernitrosylation.
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- 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.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2079, doi. 10.1093/hmg/ddr083
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- Publication type:
- Article
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice.
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- Human Molecular Genetics, 2011, v. 20, n. 4, p. 681, doi. 10.1093/hmg/ddq514
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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.
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- Human Molecular Genetics, 2011, v. 20, n. 3, p. 589, doi. 10.1093/hmg/ddq506
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- Publication type:
- Article
β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
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- Human Molecular Genetics, 2004, v. 13, n. 22, p. 2793, doi. 10.1093/hmg/ddh303
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- Publication type:
- Article
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan.
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- Human Molecular Genetics, 2003, v. 12, n. 21, p. 2853, doi. 10.1093/hmg/ddg307
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- Article
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.
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- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01486-4
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- Article
Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice.
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- Nature Communications, 2014, v. 5, n. 12, p. 5515, doi. 10.1038/ncomms6515
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- Article
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
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- 2020
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- Publication type:
- journal article
Early onset autosomal dominant spastic paraplegia caused by novel mutations inSPG3A.
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- Neurogenetics, 2004, v. 5, n. 4, p. 239, doi. 10.1007/s10048-004-0191-2
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- Article
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy.
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- Pediatric Pulmonology, 2017, v. 52, n. 4, p. 508, doi. 10.1002/ppul.23547
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- 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.
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- Pediatric Pulmonology, 2006, v. 41, n. 6, p. 551
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- Article
β-Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine.
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- Magnetic Resonance in Medicine, 2001, v. 46, n. 5, p. 1014, doi. 10.1002/mrm.1289
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- 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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- 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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- Article
Defective protein glycosylation in patients with cutis laxa syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 414, doi. 10.1038/sj.ejhg.5201361
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- Article
NMR imaging estimates of muscle volume and intramuscular fat infiltration in the thigh: variations with muscle, gender, and age.
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- Age, 2015, v. 37, n. 3, p. 1, doi. 10.1007/s11357-015-9798-5
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- Publication type:
- Article
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
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- Nature Genetics, 2012, v. 44, n. 5, p. 575, doi. 10.1038/ng.2252
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- Article
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
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- Nature Genetics, 2008, v. 40, n. 9, p. 1113, doi. 10.1038/ng.204
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- 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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- Article
Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping.
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- Molecular Therapy, 2012, v. 20, n. 11, p. 2120, doi. 10.1038/mt.2012.181
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- Article
RIPK3‐mediated cell death is involved in DUX4‐mediated toxicity in facioscapulohumeral dystrophy.
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- Journal of Cachexia, Sarcopenia & Muscle, 2021, v. 12, n. 6, p. 2079, doi. 10.1002/jcsm.12813
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- Article
Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy.
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- Journal of Cachexia, Sarcopenia & Muscle, 2021, v. 12, n. 3, p. 677, doi. 10.1002/jcsm.12708
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- Article
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy.
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- Journal of Neurology, 2020, v. 267, n. 7, p. 2022, doi. 10.1007/s00415-020-09800-9
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- 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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- Article
A Single Intravenous AAV9 Injection Mediates Bilateral Gene Transfer to the Adult Mouse Retina.
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- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061618
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- Article
Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies.
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- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055281
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- 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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- 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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- Article
DHPR α1S subunit controls skeletal muscle mass and morphogenesis.
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- EMBO Journal, 2010, v. 29, n. 3, p. 643, doi. 10.1038/emboj.2009.366
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- Article
CellWhere: graphical display of interaction networks organized on subcellular localizations.
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- 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.
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- Nucleic Acids Research, 2013, v. 41, n. 17, p. 8391, doi. 10.1093/nar/gkt621
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- Article
Expect the unexpected: favourable outcome in Munchausen by proxy syndrome.
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- 2008
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- Publication type:
- journal article
Acute liver failure associated with Coxsackie virus B2 infection in a neonate.
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- 2004
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- Publication type:
- journal article
Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro.
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- 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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- Article
Longitudinal ambulatory measurements of gait abnormality in dystrophin-deficient dogs.
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- BMC Musculoskeletal Disorders, 2011, v. 12, n. 1, p. 75, doi. 10.1186/1471-2474-12-75
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- Article
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
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- Article
Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.
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- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
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- Publication type:
- Article
A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.
- Published in:
- Human Mutation, 1998, v. 11, p. S298, doi. 10.1002/humu.1380110193
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- Article