R. Peat

发表

Arrhythmic Risk in Long-QT Syndrome Polymorphism Acting as a Protective Modifier Against KCNQ 1 Identification of a

P. Schwartz, D. Trégouët, W. Shimizu, 2013 .

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis.

F. Muntoni, B. Carlson, D. Hatfield, 2016, The Journal of clinical investigation.

Zoledronic Acid Treatment Results in Retention of Femoral Head Structure After Traumatic Osteonecrosis in Young Wistar Rats

Paul R. Williams, P. Baldock, D. Little, 2003, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Identification of a KCNQ1 Polymorphism Acting as a Protective Modifier Against Arrhythmic Risk in Long-QT Syndrome

P. Schwartz, D. Trégouët, W. Shimizu, 2013, Circulation. Cardiovascular genetics.

Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway*

K. North, R. Parton, F. Evesson, 2010, The Journal of Biological Chemistry.

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders

J. Gécz, M. Stratton, P. Tarpey, 2008, Neuromuscular Disorders.

Zoledronic acid improves femoral head sphericity in a rat model of perthes disease

M. McDonald, P. Williams, D. Little, 2005, Journal of orthopaedic research : official publication of the Orthopaedic Research Society.

Effect of voluntary physical activity initiated at age 7 months on skeletal hindlimb and cardiac muscle function in mdx mice of both genders

G. Butler-Browne, A. Ferry, O. Agbulut, 2015, Muscle & nerve.

Low-Intensity Ultrasound Stimulation in Distraction Osteogenesis in Rabbits

Lynne E Bilston, L. Bilston, M. Uglow, 2003, Clinical orthopaedics and related research.

Diagnosis and etiology of congenital muscular dystrophy

K. North, A. Compton, D. Burkin, 2008, Neurology.

Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

K. Mathews, K. North, M. Mörgelin, 2008, Annals of neurology.

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

K. North, N. Goemans, M. Mörgelin, 2004, Human molecular genetics.

Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

K. North, K. Jones, R. Peat, 2007, Neuromuscular Disorders.

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

K. Campbell, E. Chouery, A. Mégarbané, 2011, European Journal of Human Genetics.

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

B. Ceulemans, S. Aftimos, M. Hannibal, 2007, Annals of neurology.

Collagen VI Microfibril Formation Is Abolished by an α2(VI) von Willebrand Factor Type A Domain Mutation in a Patient with Ullrich Congenital Muscular Dystrophy*

K. North, C. Baldock, J. Bateman, 2010, The Journal of Biological Chemistry.