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Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

Molecular metabolism (Germany), 2022-12, Vol.66, p.101648-101648, Article 101648

2022

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Non-osteogenic muscle hypertrophy in children with McArdle disease

Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.1037-1042

2018

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McArdle disease mutations and polymorphisms

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S199-S199

2016

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Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S198-S198

2016

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Delivery is key: lessons learnt from developing splice‐switching antisense therapies

EMBO molecular medicine, 2017-05, Vol.9 (5), p.545-557

2017

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P.14.1 Dysregulation of innate immunity-related genes in Dermatomyositis

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.813-813

2013

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Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

Journal of medical genetics, 2009-03, Vol.46 (3), p.198-202

2009

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Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry

Journal of neurology, neurosurgery and psychiatry, 2012-03, Vol.83 (3), p.322-328

2012

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Molecular genetics of McArdle's disease

Current neurology and neuroscience reports, 2007-01, Vol.7 (1), p.84-92

2007

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McArdle disease: molecular genetic update

Acta myologica, 2007-07, Vol.26 (1), p.53-57

2007

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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Human genetics, 2009-04, Vol.125 (3), p.342-342

2009

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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Human genetics, 2009-04, Vol.125 (3), p.343-343

2009

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VP.88 Characterisation of cell culture models of myotonic dystrophy type I by In-Cell Western technology and digital droplet PCR

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S132-S133

2022

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Favorable responses to acute and chronic exercise in McArdle patients

Clinical journal of sport medicine, 2007-07, Vol.17 (4), p.297

2007

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Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent

Revista de neurologiá, 2007-09, Vol.45 (5), p.280-283

2007

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Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort

Mitochondrion, 2011-11, Vol.11 (6), p.905-908

2011

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Mutaciones privadas en el gen de la miofosforilasa: primer caso en un paciente de origen latinoamericano

Revista de neurologiá, 2007, Vol.45 (5), p.280

2007

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Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients

European journal of applied physiology, 2010-11, Vol.110 (5), p.1047-1055

2010

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Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort

AGE, 2012-02, Vol.34 (1), p.227-233

2012

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P.119Analysis of the structural and metabolic consequences of McArdle disease using the murine model

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S83-S83

2019

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The second wind phenomenon in very young McArdle’s patients

Neuromuscular disorders : NMD, 2009-06, Vol.19 (6), p.403-405

2009

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P.379 - McArdle disease mutations and polymorphisms

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S199-S199

2016

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A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance

Journal of the neurological sciences, 2004-04, Vol.219 (1), p.1-6

2004

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P.377 - Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S198-S198

2016

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Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

Non-osteogenic muscle hypertrophy in children with McArdle disease

McArdle disease mutations and polymorphisms

Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease

Delivery is key: lessons learnt from developing splice‐switching antisense therapies

P.14.1 Dysregulation of innate immunity-related genes in Dermatomyositis

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry

Molecular genetics of McArdle's disease

McArdle disease: molecular genetic update

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

VP.88 Characterisation of cell culture models of myotonic dystrophy type I by In-Cell Western technology and digital droplet PCR

Favorable responses to acute and chronic exercise in McArdle patients

Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent

Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort

Mutaciones privadas en el gen de la miofosforilasa: primer caso en un paciente de origen latinoamericano

Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients

Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort

P.119Analysis of the structural and metabolic consequences of McArdle disease using the murine model

The second wind phenomenon in very young McArdle’s patients

P.379 - McArdle disease mutations and polymorphisms

A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance

P.377 - Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

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