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Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

International journal of molecular sciences, 2020-12, Vol.21 (24), p.9621

2020

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Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

Scientific reports, 2019-03, Vol.9 (1), p.5116-5116, Article 5116

2019

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Feasibility of an Activity Control System in Patients with Diabetes: A Study Protocol of a Randomised Controlled Trial

Diabetes, metabolic syndrome and obesity, 2022-01, Vol.15, p.2683-2691

2022

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Specific Correlation between the Wobble Modification Deficiency in Mutant tRNAs and the Clinical Features of a Human Mitochondrial Disease

Proceedings of the National Academy of Sciences - PNAS, 2005-05, Vol.102 (20), p.7127-7132

2005

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Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders

Medicine and science in sports and exercise, 2018-06, Vol.50 (6), p.1142-1151

2018

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Absence of p.R50X Pygm read-through in McArdle disease cellular models

Disease models & mechanisms, 2020-01, Vol.13 (1)

2020

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Mitochondrial Complex I Plays an Essential Role in Human Respirasome Assembly

Cell metabolism, 2012-03, Vol.15 (3), p.324-335

2012

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Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro

Disease models & mechanisms, 2015-05, Vol.8 (5), p.467-472

2015

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Occupational Therapy in Severe Mental Disorder-A Self-Controlled Quasi-Experimental Study

Healthcare (Basel), 2022-03, Vol.10 (3), p.493

2022

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Mitochondrial respiratory chain dysfunction: Implications in neurodegeneration

Free radical biology & medicine, 2012-08, Vol.53 (3), p.595-609

2012

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Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome

Journal of neurology, 2022-06, Vol.269 (6), p.3238-3248

2022

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Impact of the mitochondrial genetic background in complex III deficiency

PloS one, 2010-09, Vol.5 (9), p.e12801

2010

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Multiple pathways coordinate assembly of human mitochondrial complex IV and stabilization of respiratory supercomplexes

The EMBO journal, 2020-07, Vol.39 (14), p.e103912-n/a

2020

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A transcriptomic approach to search for novel phenotypic regulators in McArdle disease

PloS one, 2012-02, Vol.7 (2), p.e31718-e31718

2012

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COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation

Cell reports (Cambridge), 2016-08, Vol.16 (9), p.2387-2398

2016

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Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse

International journal of molecular sciences, 2023-06, Vol.24 (13), p.10973

2023

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SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFIKO cells

Biochimica et biophysica acta. Bioenergetics, 2021-07, Vol.1862 (7), p.148414-148414, Article 148414

2021

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Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

BMC genomics, 2017-11, Vol.18 (Suppl 8), p.819-819, Article 819

2017

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Regulation of Mitochondrial Function by the Actin Cytoskeleton

Frontiers in cell and developmental biology, 2021-12, Vol.9, p.795838-795838

2021

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Two independent respiratory chains adapt OXPHOS performance to glycolytic switch

Cell metabolism, 2022-11, Vol.34 (11), p.1792-1808.e6

2022

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Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

International journal of molecular sciences, 2022-11, Vol.23 (22), p.13964

2022

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Physical exercise and epicardial adipose tissue: A systematic review and meta‐analysis of randomized controlled trials

Obesity reviews, 2021-01, Vol.22 (1), p.e13103-n/a

2021

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A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene

International journal of molecular sciences, 2023-01, Vol.24 (2), p.1743

2023

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Nutritional Status Measurement Instruments for Diabetes: A Systematic Psychometric Review

International journal of environmental research and public health, 2020-08, Vol.17 (16), p.5719

2020

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Long-term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits

Medicine and science in sports and exercise, 2022-08, Vol.54 (8), p.1231-1241

2022

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Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

Feasibility of an Activity Control System in Patients with Diabetes: A Study Protocol of a Randomised Controlled Trial

Specific Correlation between the Wobble Modification Deficiency in Mutant tRNAs and the Clinical Features of a Human Mitochondrial Disease

Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders

Absence of p.R50X Pygm read-through in McArdle disease cellular models

Mitochondrial Complex I Plays an Essential Role in Human Respirasome Assembly

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro

Occupational Therapy in Severe Mental Disorder-A Self-Controlled Quasi-Experimental Study

Mitochondrial respiratory chain dysfunction: Implications in neurodegeneration

Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome

Impact of the mitochondrial genetic background in complex III deficiency

Multiple pathways coordinate assembly of human mitochondrial complex IV and stabilization of respiratory supercomplexes

A transcriptomic approach to search for novel phenotypic regulators in McArdle disease

COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation

Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse

SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFIKO cells

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

Regulation of Mitochondrial Function by the Actin Cytoskeleton

Two independent respiratory chains adapt OXPHOS performance to glycolytic switch

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

Physical exercise and epicardial adipose tissue: A systematic review and meta‐analysis of randomized controlled trials

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene

Nutritional Status Measurement Instruments for Diabetes: A Systematic Psychometric Review

Long-term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits

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