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Page 1
Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
Nowak KJ, Sewry CA, Navarro C, Squier W, Reina C, Ricoy JR, Jayawant SS, Childs AM, Dobbie JA, Appleton RE, Mountford RC, Walker KR, Clement S, Barois A, Muntoni F, Romero NB, Laing NG. Nowak KJ, et al. Among authors: jayawant ss. Ann Neurol. 2007 Feb;61(2):175-84. doi: 10.1002/ana.21035. Ann Neurol. 2007. PMID: 17187373
Muscle histology vs MRI in Duchenne muscular dystrophy.
Kinali M, Arechavala-Gomeza V, Cirak S, Glover A, Guglieri M, Feng L, Hollingsworth KG, Hunt D, Jungbluth H, Roper HP, Quinlivan RM, Gosalakkal JA, Jayawant S, Nadeau A, Hughes-Carre L, Manzur AY, Mercuri E, Morgan JE, Straub V, Bushby K, Sewry C, Rutherford M, Muntoni F. Kinali M, et al. Neurology. 2011 Jan 25;76(4):346-53. doi: 10.1212/WNL.0b013e318208811f. Neurology. 2011. PMID: 21263136 Free PMC article.
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
Jain RK, Jayawant S, Squier W, Muntoni F, Sewry CA, Manzur A, Quinlivan R, Lillis S, Jungbluth H, Sparrow JC, Ravenscroft G, Nowak KJ, Memo M, Marston SB, Laing NG. Jain RK, et al. Neurology. 2012 Apr 3;78(14):1100-3. doi: 10.1212/WNL.0b013e31824e8ebe. Epub 2012 Mar 21. Neurology. 2012. PMID: 22442437 No abstract available.
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Logan CV, Cossins J, Rodríguez Cruz PM, Parry DA, Maxwell S, Martínez-Martínez P, Riepsaame J, Abdelhamed ZA, Lake AV, Moran M, Robb S, Chow G, Sewry C, Hopkins PM, Sheridan E, Jayawant S, Palace J, Johnson CA, Beeson D. Logan CV, et al. Am J Hum Genet. 2015 Dec 3;97(6):878-85. doi: 10.1016/j.ajhg.2015.10.017. Epub 2015 Nov 25. Am J Hum Genet. 2015. PMID: 26626625 Free PMC article.
Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study.
Bourke JP, Watson G, Muntoni F, Spinty S, Roper H, Guglieri M, Speed C, McColl E, Chikermane A, Jayawant S, Adwani S, Willis T, Wilkinson J, Bryant A, Chadwick T, Wood R, Bushby K; DMD Heart Protection study group. Bourke JP, et al. BMJ Open. 2018 Dec 19;8(12):e022572. doi: 10.1136/bmjopen-2018-022572. BMJ Open. 2018. PMID: 30573480 Free PMC article.
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J, Beeson D. Rodríguez Cruz PM, et al. Brain. 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107. Brain. 2019. PMID: 31081514 Free PMC article.
75 results