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Muscle fiber type proportion and size is not altered in mcardle disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Response to Letter to the Editor.
- Published in:
- Obesity Reviews, 2021, v. 22, n. 6, p. 1, doi. 10.1111/obr.13253
- By:
- Publication type:
- Article
Physical exercise and epicardial adipose tissue: A systematic review and meta‐analysis of randomized controlled trials.
- Published in:
- Obesity Reviews, 2021, v. 22, n. 1, p. 1, doi. 10.1111/obr.13103
- By:
- Publication type:
- Article
Exercise Training and Neurodegeneration in Mitochondrial Disorders: Insights From the Harlequin Mouse.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.594223
- By:
- Publication type:
- Article
Physical Exercise and Mitochondrial Disease: Insights From a Mouse Model.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00790
- By:
- Publication type:
- Article
Serum levels of β-carotene, α-carotene and vitamin A in patients with Alzheimer's disease.
- Published in:
- European Journal of Neurology, 1999, v. 6, n. 4, p. 495, doi. 10.1046/j.1468-1331.1999.640495.x
- By:
- Publication type:
- Article
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 1743, doi. 10.3390/ijms24021743
- By:
- Publication type:
- Article
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13964, doi. 10.3390/ijms232213964
- By:
- Publication type:
- Article
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 4650, doi. 10.3390/ijms23094650
- By:
- Publication type:
- Article
Plasma Gelsolin Reinforces the Diagnostic Value of FGF-21 and GDF-15 for Mitochondrial Disorders.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6396, doi. 10.3390/ijms22126396
- By:
- Publication type:
- Article
Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.
- Published in:
- Neuroradiology, 2024, v. 66, n. 3, p. 389, doi. 10.1007/s00234-023-03263-1
- By:
- Publication type:
- Article
β-Secretase1 biological markers for Alzheimer's disease: state-of-art of validation and qualification.
- Published in:
- Alzheimer's Research & Therapy, 2020, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13195-020-00686-3
- By:
- Publication type:
- Article
Multiple pathways coordinate assembly of human mitochondrial complex IV and stabilization of respiratory supercomplexes.
- Published in:
- EMBO Journal, 2020, v. 39, n. 14, p. 1, doi. 10.15252/embj.2019103912
- By:
- Publication type:
- Article
Attitudes towards transgender people in the university community.
- Published in:
- Methaodos: Social Science Journal / Methaodos: Revista de Ciencias Sociales, 2023, v. 11, n. 1, p. 1, doi. 10.17502/mrcs.v11i1.674
- By:
- Publication type:
- Article
Increased mitochondrial respiratory chain enzyme activities correlate with minor extent of liver damage in mice suffering from erythropoietic protoporphyria.
- Published in:
- Experimental Dermatology, 2005, v. 14, n. 1, p. 26, doi. 10.1111/j.0906-6705.2005.00248.x
- By:
- Publication type:
- Article
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Double trouble (McArdle's disease and myasthenia gravis): How can exercise help?
- Published in:
- Muscle & Nerve, 2007, v. 35, n. 1, p. 125, doi. 10.1002/mus.20645
- By:
- Publication type:
- Article
Prevalence and progression of mitochondrial diseases: A study of 50 patients.
- Published in:
- Muscle & Nerve, 2003, v. 28, n. 6, p. 690, doi. 10.1002/mus.10507
- By:
- Publication type:
- Article
Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.
- Published in:
- Muscle & Nerve, 2003, v. 28, n. 3, p. 380, doi. 10.1002/mus.10418
- By:
- Publication type:
- Article
A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Oxidative stress in skin fibroblasts cultures from patients with Parkinson's disease.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Oxidative stress in skin fibroblasts cultures from patients with Parkinson's disease.
- Published in:
- BMC Neurology, 2010, v. 10, p. 95, doi. 10.1186/1471-2377-10-95
- By:
- Publication type:
- Article
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 1, p. 22, doi. 10.3390/jcm11010022
- By:
- Publication type:
- Article
Occupational Therapy in Severe Mental Disorder—A Self-Controlled Quasi-Experimental Study.
- Published in:
- Healthcare (2227-9032), 2022, v. 10, n. 3, p. 493, doi. 10.3390/healthcare10030493
- By:
- Publication type:
- Article
Nitric oxide compounds have different effects profiles on human articular chondrocyte metabolism.
- Published in:
- Arthritis Research & Therapy, 2013, v. 15, n. 5, p. 1, doi. 10.1186/ar4295
- By:
- Publication type:
- Article
Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 7, p. 2048, doi. 10.1093/brain/aws141
- By:
- Publication type:
- Article
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
- Published in:
- 2007
- By:
- Publication type:
- journal article
X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
- Published in:
- Annals of Neurology, 2007, v. 61, n. 1, p. 73
- By:
- Publication type:
- Article
The V368i mutation in Twinkle does not segregate with adPEO.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 2, p. 278
- By:
- Publication type:
- Article
Molecular heterogeneity of myophosphorylase deficiency (Mcardle's disease): A genotype-phenotype correlation study.
- Published in:
- Annals of Neurology, 2001, v. 50, n. 5, p. 574, doi. 10.1002/ana.1225
- By:
- Publication type:
- Article
Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
- Published in:
- BMC Genomics, 2017, v. 18, p. 39, doi. 10.1186/s12864-017-4188-2
- By:
- Publication type:
- Article
Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 6, p. 3238, doi. 10.1007/s00415-021-10942-7
- By:
- Publication type:
- Article
Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects.
- Published in:
- Antioxidants, 2022, v. 11, n. 3, p. 510, doi. 10.3390/antiox11030510
- By:
- Publication type:
- Article
Occupational Balance and Emotional Regulation in People With and Without Serious Mental Illness.
- Published in:
- Canadian Journal of Occupational Therapy, 2024, v. 91, n. 1, p. 100, doi. 10.1177/00084174231178440
- By:
- Publication type:
- Article
Renal pathology in children with mitochondrial diseases.
- Published in:
- Pediatric Nephrology, 2005, v. 20, n. 9, p. 1299, doi. 10.1007/s00467-005-1948-z
- By:
- Publication type:
- Article
Respiratory chain enzyme deficiency induces mitochondrial location of actin-binding gelsolin to modulate the oligomerization of VDAC complexes and cell survival.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 13, p. 2493, doi. 10.1093/hmg/ddx144
- By:
- Publication type:
- Article
Cerebrospinal Fluid Nitrate Levels in Patients with Multiple Sclerosis.
- Published in:
- European Neurology, 1999, v. 41, n. 1, p. 44, doi. 10.1159/000007997
- By:
- Publication type:
- Article
High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 2, p. 538, doi. 10.1111/ene.15626
- By:
- Publication type:
- Article
Nutritional Status Measurement Instruments for Diabetes: A Systematic Psychometric Review.
- Published in:
- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 16, p. 5719, doi. 10.3390/ijerph17165719
- By:
- Publication type:
- Article
Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease.
- Published in:
- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 12, p. 4334, doi. 10.3390/ijerph17124334
- By:
- Publication type:
- Article
Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene.
- Published in:
- Biomedicines, 2023, v. 11, n. 9, p. 2434, doi. 10.3390/biomedicines11092434
- By:
- Publication type:
- Article
Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics‐based analysis in the McArdle mouse model.
- Published in:
- Journal of Physiology, 2018, v. 596, n. 6, p. 1035, doi. 10.1113/JP275292
- By:
- Publication type:
- Article
Low versus high carbohydrates in the diet of the world-class athlete: insights from McArdle's disease.
- Published in:
- Journal of Physiology, 2017, v. 595, n. 9, p. 2991, doi. 10.1113/JP274060
- By:
- Publication type:
- Article
Altered Expression Ratio of Actin-Binding Gelsolin Isoforms Is a Novel Hallmark of Mitochondrial OXPHOS Dysfunction.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 9, p. 1922, doi. 10.3390/cells9091922
- By:
- Publication type:
- Article
Exercise Capacity in a Child With McArdle Disease.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 7, p. 880, doi. 10.1177/0883073807304206
- By:
- Publication type:
- Article
Leber's Congenital Amaurosis Associated With Mitochondrial Dysfunction.
- Published in:
- Journal of Child Neurology, 1996, v. 11, n. 2, p. 108, doi. 10.1177/088307389601100209
- By:
- Publication type:
- Article