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NF1 is a critical regulator of muscle development and metabolism

Human molecular genetics, 2014-03, Vol.23 (5), p.1250-1259

2014

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Progress and prospects of gene therapy clinical trials for the muscular dystrophies

Human molecular genetics, 2016-04, Vol.25 (R1), p.R9-R17

2016

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Therapeutic approaches to muscular dystrophy

Human molecular genetics, 2011-04, Vol.20 (R1), p.R69-R78

2011

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Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease

Human mutation, 2018-12, Vol.39 (12), p.1774-1787

2018

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Sport and exercise genomics: the FIMS 2019 consensus statement update

British journal of sports medicine, 2020-08, Vol.54 (16), p.969-975

2020

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ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling

The Journal of clinical investigation, 2013-10, Vol.123 (10), p.4255-4263

2013

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Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

Nature genetics, 2007-10, Vol.39 (10), p.1261-1265

2007

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Gene replacement therapies for duchenne muscular dystrophy using adeno-associated viral vectors

Current gene therapy, 2012-06, Vol.12 (3), p.139-151

2012

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Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion

Human molecular genetics, 2016-03, Vol.25 (5), p.866-877

2016

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An observational human study investigating the effect of anabolic androgenic steroid use on the transcriptome of skeletal muscle and whole blood using RNA-Seq

BMC medical genomics, 2023-05, Vol.16 (1), p.94-94, Article 94

2023

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The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance

American journal of human genetics, 2018-05, Vol.102 (5), p.845-857

2018

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An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance

Human molecular genetics, 2008-04, Vol.17 (8), p.1076-1086

2008

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Androgen Action via the Androgen Receptor in Neurons Within the Brain Positively Regulates Muscle Mass in Male Mice

Endocrinology (Philadelphia), 2017-10, Vol.158 (10), p.3684-3695

2017

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Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling

Human molecular genetics, 2011-08, Vol.20 (15), p.2914-2927

2011

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Association Between Hematological Parameters and Iron Metabolism Response After Marathon Race and ACTN3 Genotype

Frontiers in physiology, 2019-06, Vol.10, p.697-697

2019

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Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

American journal of human genetics, 2008-12, Vol.83 (6), p.714-724

2008

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Efficacy and muscle safety assessment of fukutin-related protein gene therapy

Molecular therapy. Methods & clinical development, 2023-09, Vol.30, p.65-80

2023

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α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle

Human molecular genetics, 2010-04, Vol.19 (7), p.1335-1346

2010

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Validation of an automated computational method for skeletal muscle fibre morphometry analysis

Neuromuscular disorders : NMD, 2010-08, Vol.20 (8), p.540-547

2010

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ACTN3 genotype influences skeletal muscle mass regulation and response to dexamethasone

Science advances, 2021-07, Vol.7 (27)

2021

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Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice

Muscle & nerve, 2011-01, Vol.43 (1), p.37-48

2011

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The effect of α-actinin-3 deficiency on muscle aging

Experimental gerontology, 2011-04, Vol.46 (4), p.292-302

2011

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Therapy of Genetic Disorders: Novel Therapies for Duchenne Muscular Dystrophy

Current pediatrics reports (Philadelphia, PA), 2014-06, Vol.2 (2), p.102-112

2014

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α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse

Bone (New York, N.Y.), 2011-10, Vol.49 (4), p.790-798

2011

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Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis

Neuromuscular disorders : NMD, 2008-01, Vol.18 (1), p.34-44

2008

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NF1 is a critical regulator of muscle development and metabolism

Progress and prospects of gene therapy clinical trials for the muscular dystrophies

Therapeutic approaches to muscular dystrophy

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease

Sport and exercise genomics: the FIMS 2019 consensus statement update

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

Gene replacement therapies for duchenne muscular dystrophy using adeno-associated viral vectors

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion

An observational human study investigating the effect of anabolic androgenic steroid use on the transcriptome of skeletal muscle and whole blood using RNA-Seq

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance

An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance

Androgen Action via the Androgen Receptor in Neurons Within the Brain Positively Regulates Muscle Mass in Male Mice

Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling

Association Between Hematological Parameters and Iron Metabolism Response After Marathon Race and ACTN3 Genotype

Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

Efficacy and muscle safety assessment of fukutin-related protein gene therapy

α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle

Validation of an automated computational method for skeletal muscle fibre morphometry analysis

ACTN3 genotype influences skeletal muscle mass regulation and response to dexamethasone

Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice

The effect of α-actinin-3 deficiency on muscle aging

Therapy of Genetic Disorders: Novel Therapies for Duchenne Muscular Dystrophy

α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse

Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis

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