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Developmental Medicine & Child Neurology, ISSN 0012-1622, 02/2019, Volume 61, Issue 2, pp. 174 - 180
Children with neurofibromatosis type 1 (NF1) demonstrated atypical gaze behaviour when attending to faces. NF1 gaze behaviour was characterized by normal... 
PERCEPTION | AUTISM | RECOGNITION | SKILLS | PEDIATRICS | SYMPTOMS | DYSFUNCTION | CLINICAL NEUROLOGY | WILLIAMS-SYNDROME
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 01/2005, Volume 14, Issue 2, pp. 279 - 293
Journal Article
Exercise and Sport Sciences Reviews, ISSN 0091-6331, 01/2007, Volume 35, Issue 1, pp. 30 - 34
A common variant of the ACTN3 gene, R577X, results in complete deficiency of the alpha-actinin-3 protein in the fast skeletal muscle fibers of more than a... 
Elite athletes | R577X | Muscle strength | Actinin | Genetic association | muscle strength | SPORT SCIENCES | PHYSIOLOGY | EVOLUTION | ENDURANCE | GENOTYPE | genetic association | HERITAGE FAMILY | ALPHA-ACTININ-3 | elite athletes | actinin | Physical Fitness - physiology | Phenotype | Actinin - genetics | Humans | Musculoskeletal Physiological Phenomena | Physical Endurance - genetics | Sports
Journal Article
BioEssays, ISSN 0265-9247, 07/2004, Volume 26, Issue 7, pp. 786 - 795
Journal Article
BBA - Molecular Cell Research, ISSN 0167-4889, 04/2016, Volume 1863, Issue 4, p. 686
An estimated 1.5 billion people worldwide are deficient in the skeletal muscle protein [alpha]-actinin-3 due to homozygosity for the common ACTN3 R577X... 
Proteins | Genetic research | Muscles
Journal Article
JAMA Neurology, ISSN 2168-6149, 12/2015, Volume 72, Issue 12, p. 1424
  To our knowledge, the efficacy of transferring next-generation sequencing from a research setting to neuromuscular clinics has never been evaluated. To... 
Genotype & phenotype | Neurology | Congenital diseases | Genetics | Medical diagnosis | Muscular dystrophy | Clinical outcomes
Journal Article
PLoS Genetics, ISSN 1553-7390, 01/2015, Volume 11, Issue 1
Over 1.5 billion people lack the skeletal muscle fast-twitch fibre protein [alpha]-actinin-3 due to homozygosity for a common null polymorphism (R577X) in the... 
Journal Article
Journal Article
Human Brain Mapping, ISSN 1065-9471, 05/2014, Volume 35, Issue 5, pp. 2372 - 2382
Journal Article
Sports Medicine, ISSN 0112-1642, 09/2013, Volume 43, Issue 9, pp. 803 - 803
The ability of skeletal muscles to produce force at a high velocity, which is crucial for success in power and sprint performance, is strongly influenced by... 
Journal Article
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