Swash M - Search Results

1

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Müller CR, Brown S, Treves S, Muntoni F. Zhou H, et al. Among authors: swash m. Brain. 2007 Aug;130(Pt 8):2024-36. doi: 10.1093/brain/awm096. Epub 2007 May 4. Brain. 2007. PMID: 17483490 Free article.

2

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F. Jungbluth H, et al. Among authors: swash m. Neurology. 2005 Dec 27;65(12):1930-5. doi: 10.1212/01.wnl.0000188870.37076.f2. Neurology. 2005. PMID: 16380615

3

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Jungbluth H, Lillis S, Zhou H, Abbs S, Sewry C, Swash M, Muntoni F. Jungbluth H, et al. Among authors: swash m. Neuromuscul Disord. 2009 May;19(5):344-7. doi: 10.1016/j.nmd.2009.02.005. Epub 2009 Mar 19. Neuromuscul Disord. 2009. PMID: 19303294

4

Congenital myopathy with focal loss of cross-striations revisited.

Voermans NC, Jungbluth H, Aronica E, Monnier N, Lunardi J, Swash M, de Visser M. Voermans NC, et al. Among authors: swash m. Neuromuscul Disord. 2013 Feb;23(2):160-4. doi: 10.1016/j.nmd.2012.08.010. Epub 2012 Nov 3. Neuromuscul Disord. 2013. PMID: 23127960

5

Ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis. Morphology, distribution, and specificity.

Leigh PN, Whitwell H, Garofalo O, Buller J, Swash M, Martin JE, Gallo JM, Weller RO, Anderton BH. Leigh PN, et al. Among authors: swash m. Brain. 1991 Apr;114 ( Pt 2):775-88. doi: 10.1093/brain/114.2.775. Brain. 1991. PMID: 1646064

6

Cytoskeletal abnormalities in motor neuron disease. An immunocytochemical study.

Leigh PN, Dodson A, Swash M, Brion JP, Anderton BH. Leigh PN, et al. Among authors: swash m. Brain. 1989 Apr;112 ( Pt 2):521-35. doi: 10.1093/brain/112.2.521. Brain. 1989. PMID: 2706443

7

Spinal cord trauma in man: studies of phosphorylated neurofilament and ubiquitin expression.

Martin JE, Mather KS, Swash M, Garofalo O, Dale GE, Leigh PN, Anderton BH. Martin JE, et al. Among authors: swash m. Brain. 1990 Oct;113 ( Pt 5):1553-62. doi: 10.1093/brain/113.5.1553. Brain. 1990. PMID: 1700924

8

Relative efficacy of intravenous methylprednisolone and ACTH in the treatment of acute relapse in MS.

Thompson AJ, Kennard C, Swash M, Summers B, Yuill GM, Shepherd DI, Roche S, Perkin GD, Loizou LA, Ferner R, et al. Thompson AJ, et al. Among authors: swash m. Neurology. 1989 Jul;39(7):969-71. doi: 10.1212/wnl.39.7.969. Neurology. 1989. PMID: 2544829 Clinical Trial.

9

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations.

Houlden H, Baker M, McGowan E, Lewis P, Hutton M, Crook R, Wood NW, Kumar-Singh S, Geddes J, Swash M, Scaravilli F, Holton JL, Lashley T, Tomita T, Hashimoto T, Verkkoniemi A, Kalimo H, Somer M, Paetau A, Martin JJ, Van Broeckhoven C, Golde T, Hardy J, Haltia M, Revesz T. Houlden H, et al. Among authors: swash m. Ann Neurol. 2000 Nov;48(5):806-8. Ann Neurol. 2000. PMID: 11079548

10

Juvenile-onset bulbospinal muscular atrophy with deafness: Vialetta-van Laere syndrome or Madras-type motor neuron disease?

Summers BA, Swash M, Schwartz MS, Ingram DA. Summers BA, et al. Among authors: swash m. J Neurol. 1987 Aug;234(6):440-2. doi: 10.1007/BF00314095. J Neurol. 1987. PMID: 3655850

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