Kate Bushby

Bushby K, Lynn S, Straub T; TREAT-NMD Network. Collaborating to bring new therapies to the patient--the TREAT-NMD model. Acta Myol. 2009 Jul;28(1):12-5.

Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009 Sep 18.

Kinali M, Arechavala-Gomeza V, Feng L, Cirak S, Hunt D, Adkin C, Guglieri M, Ashton E, Abbs S, Nihoyannopoulos P, Garralda ME, Rutherford M, McCulley C, Popplewell L, Graham IR, Dickson G, Wood MJ, Wells DJ, Wilton SD, Kole R, Straub V, Bushby K, Sewry C, Morgan JE, Muntoni F. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol. 2009 Oct;8(10):918-28.

Charlton R, Henderson M, Richards J, Hudson J, Straub V, Bushby K, Barresi R. Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A.Neuromuscul Disord. 2009 Jul;19(7):449-57.

Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, Charlton R, Roberts M, Straub V, Barresi R, Lochmüller H, Bushby K. New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry. 2009 Jun 14.

Chiu YH, Hornsey MA, Klinge L, Jørgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmüller H, Bushby K. Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet. 2009 Jun 1;18(11):1976-89. Epub 2009 Mar 13.

Bauer R, Hudson J, Müller HD, Sommer C, Dekomien G, Bourke J, Routledge D, Bushby K, Klepper J, Straub V. Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? Eur J Hum Genet. 2009 Sep;17(9):1148-53. Epub 2009 Mar 4.

Bauer R, Straub V, Blain A, Bushby K, MacGowan GA. Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy. Eur J Heart Fail. 2009 May;11(5):463-71.

Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol. 2008 Nov;64(5):573-82.

Shatunov A, Olivé M, Odgerel Z, Stadelmann-Nessler C, Irlbacher K, van Landeghem F, Bayarsaikhan M, Lee HS, Goudeau B, Chinnery PF, Straub V, Hilton-Jones D, Damian MS, Kaminska A, Vicart P, Bushby K, Dalakas MC, Sambuughin N, Ferrer I, Goebel HH, Goldfarb LG. In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur J Hum Genet. 2009 May;17(5):656-63.

Straub V, Bushby K. Neurotherapeutics. Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies. 2008 Oct;5(4):619-26. Review.

Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H, Bushby KM. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Brain. 2009 Jan;132(Pt 1):147-55.

Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, Bushby K, Straub V. Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? Neuromuscul Disord. 2008 Dec;18(12):934-41.

Guglieri M, Bushby K. How to go about diagnosing and managing the limb-girdle muscular dystrophies. Neurol India. 2008 Jul-Sep;56(3):271-80. Review.

Sárközy A, Bushby K, Béroud C, Lochmüller H. 157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands. Neuromuscul Disord. 2008 Dec;18(12):997-1001. No abstract available.

Mercuri E, Mayhew A, Muntoni F, Messina S, Straub V, Van Ommen GJ, Voit T, Bertini E, Bushby K; TREAT-NMD Neuromuscular Network. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th-13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June-1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France. Neuromuscul Disord. 2008 Nov;18(11):894-903. Epub 2008 Sep 24. No abstract available.

Guglieri M, Straub V, Bushby K, Lochmüller H. Limb-girdle muscular dystrophies. Curr Opin Neurol. 2008 Oct;21(5):576-84. Review.

Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V. Caveolinopathy -new mutations and additional symptoms. Neuromuscul Disord. 2008 Jul;18(7):572-8.

Bauer R, Macgowan GA, Blain A, Bushby K, Straub V. Steroid treatment causes deterioration of myocardial function in the delta -sarcoglycan-deficient mouse model for dilated cardiomyopathy. Cardiovasc Res. 2008 Sep 1;79(4):652-61.

Patel P, Harris R, Geddes SM, Strehle EM, Watson JD, Bashir R, Bushby K, Driscoll PC, Keep NH. Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. J Mol Biol. 2008 Jun 20;379(5):981-90.

Thornhill P, Bassett D, Lochmüller H, Bushby K, Straub V. Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). Brain. 2008 Jun;131(Pt 6):1551-61.

Klinge L, Dean AF, Kress W, Dixon P, Charlton R, Müller JS, Anderson LV, Straub V, Barresi R, Lochmüller H, Bushby K. Late onset in dysferlinopathy widens the clinical spectrum. Neuromuscul Disord. 2008 Apr;18(4):288-90.

Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K. A refined diagnostic algorithm for Bethlem myopathy. Neurology. 2008 Apr 1;70(14):1192-9.

Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat. 2008 Jun;29(6):809-22.

Wagner KR, Fleckenstein JL, Amato AA, Barohn RJ, Bushby K, Escolar DM, Flanigan KM, Pestronk A, Tawil R, Wolfe GI, Eagle M, Florence JM, King WM, Pandya S, Straub V, Juneau P, Meyers K, Csimma C, Araujo T, Allen R, Parsons SA, Wozney JM, Lavallie ER, Mendell JR. A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol. 2008 May;63(5):561-71.

Huang Y, de Morrée A, van Remoortere A, Bushby K, Frants RR, Dunnen JT, van der Maarel SM. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet. 2008 Jun 15;17(12):1855-66.

Spuler S, Carl M, Zabojszcza J, Straub V, Bushby K, Moore SA, Bähring S, Wenzel K, Vinkemeier U, Rocken C. Dysferlin-deficient muscular dystrophy features amyloidosis. Ann Neurol. 2008 Mar;63(3):323-8.

Muntoni F, Bushby KD, van Ommen G. 149th ENMC International Workshop and 1st TREAT-NMD Workshop on: "planning phase i/ii clinical trials using systemically delivered antisense oligonucleotides in duchenne muscular dystrophy". Neuromuscul Disord. 2008 Mar;18(3):268-75 No abstract available.

Hernández-Deviez DJ, Howes MT, Laval SH, Bushby K, Hancock JF, Parton RG. Caveolin regulates endocytosis of the muscle repair protein, dysferlin. J Biol Chem. 2008 Mar 7;283(10):6476-88.

McFarland R, Swalwell H, Blakely EL, He L, Groen EJ, Turnbull DM, Bushby KM, Taylor RW. The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy. Neuromuscul Disord. 2008 Jan;18(1):63-7.

Garrood P, Eagle M, Jardine PE, Bushby K, Straub V. Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy. Neuromuscul Disord. 2008 Jan;18(1):71-3.