Browsing by Author Peat, Rachel

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Issue DateTitleAuthor(s)Citation
2008Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severityNorth, Kathryn; Peat, Rachel; Adams, Naomi E.; Baker, Naomi L.; Bateman, John F; Irving, Melita; Lamande, Shireen R.; Lamont, Phillipa J; Mathews, Katherine D; Moore, Stephen A; Morgelin, Matthias; Mowat, David; Pace, Rishika A.; Smith, Nicholas C; Zamurs, Laura; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: MedicineCollagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity, Annals of Neurology, vol.64,(3),2008,pp 294-303
2010Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor A-domain mutation in a patient with Ullrich congenital muscular dystrophyNorth, Kathryn; Peat, Rachel; Adams, Naomi E.; Baker, Naomi L; Baldock, Clair; Bateman, John F; Beecher, Nicola; Lamande, Shireen R.; Tooley, Leona; Zamurs, Laura; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: MedicineCollagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor A-domain mutation in a patient with Ullrich congenital muscular dystrophy, Journal of Biological Chemistry, vol.285, 43,pp 33567-33576
2008Exclusion of biglycan mutations in a cohort of patients with neuromuscular disordersNorth, Kathryn; Fallon, Justin; Futreal, Andrew; Gecz, Jozef; Lamande, Shireen R.; Peat, Rachel; Smith, Raffaella; Stratton, Michael; Tarpey, Patrick; Yang, Nan; Children's Hospital Westmead: Paediatrics & Child HealthExclusion of biglycan mutations in a cohort of patients with neuromuscular disorders, Neuromuscular Disorders, vol.18, 8, 2008,pp 606-609
2007Molecular consequences of dominant Bethlem myopathy collagen VI mutationsNorth, Kathryn; Peat, Rachel; Adams, Naomi E.; Baker, Naomi L; Ceulemans, Berten; De Jonghe, Peter; et, al; Gardner, R. J. McKinlay; Miller, Georgina F; Morgelin, Matthias; Pace, Rishika A.; Rowland, L. S.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: MedicineMolecular consequences of dominant Bethlem myopathy collagen VI mutations, Annals of Neurology, vol.62,(4),2007,pp 390-405
2007Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy familiesJones, Kristi; North, Kathryn; Peat, Rachel; Baker, Naomi L.; Lamande, Shireen R.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: MedicineVariable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families, Neuromuscular Disorders, vol.17,(7),2007,pp 547-557
2005Zoledronic acid improves femoral head sphericity in a rat model of perthes disease.Little, David; Peat, Rachel; McDonald, Michelle; McEvoy, Anthony; Sharpe, Ian T; Williams, Paul R; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: MedicineZoledronic acid improves femoral head sphericity in a rat model of perthes disease., Journal of Orthopaedic Research, vol.23,(4),2005,pp 862-868
2003Zoledronic acid treatment results in retention of femoral head structure after traumatic osteonecrosis in young Wistar ratsLittle, David; Peat, Rachel; Baldock, Paul A.; McEvoy, Anthony; Smith, Elisabeth J; Williams, Paul R; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: MedicineZoledronic acid treatment results in retention of femoral head structure after traumatic osteonecrosis in young Wistar rats, Journal of Bone and Mineral Research, vol.18,(11),2003,pp 2016-2022