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List of works by Peter Houweling

A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.

scientific article published on 12 September 2006

A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3.

scientific article

ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.

scientific article

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.

scientific article published on 16 September 2013

Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution

scientific article

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

scientific article published on 17 December 2015

BRANCHED FIBERS FROM OLD FAST-TWITCH DYSTROPHIC MUSCLES ARE THE SITES OF TERMINAL DAMAGE IN MUSCULAR DYSTROPHY.

scientific article published on 7 February 2018

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

scientific article published on 02 May 2011

Evaluating modified diets and dietary supplement therapies for reducing muscle lipid accumulation and improving muscle function in neurofibromatosis type 1 (NF1)

scientific article published on 10 August 2020

Evidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscle

scientific article

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

scientific article published on 31 January 2017

Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans

scientific article

Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way ⬇️

scientific article published on September 1, 2013

How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'.

scientific article

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

scientific article published on 08 November 2018

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 24 September 2014

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 02 January 2015

More than a 'speed gene': ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries

article

Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene

scientific article published on 25 July 2006

Neuronal control of bone and muscle

scientific article

No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes

scientific article published on 29 January 2016

No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes

scientific article published on 3 January 2018

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

scientific article published on 30 September 2010

Properties of regenerated mouse extensor digitorum longus muscle following notexin injury

scientific article published on 10 January 2014

Radiation hybrid mapping of three candidate genes for bovine Neuronal Ceroid Lipofuscinosis: CLN3, CLN5 and CLN6.

scientific article

Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network

scientific article

Response to J.W. Pike by C.M. Girgis, N. Mokbel, K.M. Cha, P.J. Houweling, M. Abboud, D.R. Fraser, R.S. Mason, R.J. Clifton-Bligh, and J.E. Gunton

scientific article published in September 2014

Sequence analysis of the equine ACTN3 gene in Australian horse breeds.

scientific article

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance

scientific article published on 26 April 2018

The antioxidants neopterin/7,8-dihydroneopterin: Novel biomarker and muscle protectant in Duchenne muscular dystrophy

scientific article published on 01 July 2018

The influence of α-actinin-3 deficiency on bone remodelling markers in young men.

scientific article published on 22 February 2017

The vitamin D receptor (VDR) is expressed in skeletal muscle of male mice and modulates 25-hydroxyvitamin D (25OHD) uptake in myofibers

scientific article

Vitamin D Receptor Ablation and Vitamin D Deficiency Result in Reduced Grip Strength, Altered Muscle Fibers, and Increased Myostatin in Mice.

scientific article published on 4 September 2015

α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization

scientific journal article

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

scientific article

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