Bushby K - Search Results

1

Late onset in dysferlinopathy widens the clinical spectrum.

Klinge L, Dean AF, Kress W, Dixon P, Charlton R, Müller JS, Anderson LV, Straub V, Barresi R, Lochmüller H, Bushby K. Klinge L, et al. Among authors: bushby k. Neuromuscul Disord. 2008 Apr;18(4):288-90. doi: 10.1016/j.nmd.2008.01.004. Neuromuscul Disord. 2008. PMID: 18396043

2

Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.

Mahjneh I, Marconi G, Bushby K, Anderson LV, Tolvanen-Mahjneh H, Somer H. Mahjneh I, et al. Among authors: bushby k. Neuromuscul Disord. 2001 Jan;11(1):20-6. doi: 10.1016/s0960-8966(00)00157-7. Neuromuscul Disord. 2001. PMID: 11166162

3

Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy.

Haberlova J, Mitrović Z, Zarković K, Lovrić D, Barić V, Berlengi L, Bilić K, Fumić K, Kranz K, Huebner A, von der Hagen M, Barresi R, Bushby K, Straub V, Barić I, Lochmüller H. Haberlova J, et al. Among authors: bushby k. Neuromuscul Disord. 2014 Nov;24(11):990-2. doi: 10.1016/j.nmd.2014.06.440. Epub 2014 Jul 3. Neuromuscul Disord. 2014. PMID: 25088310

4

Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy.

Sewry CA, Taylor J, Anderson LV, Ozawa E, Pogue R, Piccolo F, Bushby K, Dubowitz V, Muntoni F. Sewry CA, et al. Among authors: bushby k. Neuromuscul Disord. 1996 Dec;6(6):467-74. doi: 10.1016/s0960-8966(96)00389-6. Neuromuscul Disord. 1996. PMID: 9027857 Clinical Trial.

5

Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.

Bushby K, Anderson LV, Pollitt C, Naom I, Muntoni F, Bindoff L. Bushby K, et al. Brain. 1998 Apr;121 ( Pt 4):581-8. doi: 10.1093/brain/121.4.581. Brain. 1998. PMID: 9577386

6

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation.

Vafiadaki E, Reis A, Keers S, Harrison R, Anderson LV, Raffelsberger T, Ivanova S, Hoger H, Bittner RE, Bushby K, Bashir R. Vafiadaki E, et al. Among authors: bushby k. Neuroreport. 2001 Mar 5;12(3):625-9. doi: 10.1097/00001756-200103050-00039. Neuroreport. 2001. PMID: 11234777

7

Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy.

Garrood P, Eagle M, Jardine PE, Bushby K, Straub V. Garrood P, et al. Among authors: bushby k. Neuromuscul Disord. 2008 Jan;18(1):71-3. doi: 10.1016/j.nmd.2007.07.006. Epub 2007 Aug 23. Neuromuscul Disord. 2008. PMID: 17719224

8

A refined diagnostic algorithm for Bethlem myopathy.

Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K. Hicks D, et al. Among authors: bushby k. Neurology. 2008 Apr 1;70(14):1192-9. doi: 10.1212/01.wnl.0000307749.66438.6d. Neurology. 2008. PMID: 18378883 Clinical Trial.

9

Calpainopathy presenting as foot drop in a 41 year old.

Burke G, Hillier C, Cole J, Sampson M, Bridges L, Bushby K, Barresi R, Hammans SR. Burke G, et al. Among authors: bushby k. Neuromuscul Disord. 2010 Jun;20(6):407-10. doi: 10.1016/j.nmd.2010.04.006. Neuromuscul Disord. 2010. PMID: 20580976

10

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.

Norwood F, de Visser M, Eymard B, Lochmüller H, Bushby K; EFNS Guideline Task Force. Norwood F, et al. Among authors: bushby k. Eur J Neurol. 2007 Dec;14(12):1305-12. doi: 10.1111/j.1468-1331.2007.01979.x. Eur J Neurol. 2007. PMID: 18028188 Review.

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