Al-Sarraj S - Search Results

1

RYR1 mutations are a common cause of congenital myopathies with central nuclei.

Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H. Wilmshurst JM, et al. Ann Neurol. 2010 Nov;68(5):717-26. doi: 10.1002/ana.22119. Ann Neurol. 2010. PMID: 20839240 Free article.

2

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Zhou H, Lillis S, Loy RE, Ghassemi F, Rose MR, Norwood F, Mills K, Al-Sarraj S, Lane RJ, Feng L, Matthews E, Sewry CA, Abbs S, Buk S, Hanna M, Treves S, Dirksen RT, Meissner G, Muntoni F, Jungbluth H. Zhou H, et al. Neuromuscul Disord. 2010 Mar;20(3):166-73. doi: 10.1016/j.nmd.2009.12.005. Epub 2010 Jan 18. Neuromuscul Disord. 2010. PMID: 20080402 Free PMC article.

3

King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Dowling JJ, Lillis S, Amburgey K, Zhou H, Al-Sarraj S, Buk SJ, Wraige E, Chow G, Abbs S, Leber S, Lachlan K, Baralle D, Taylor A, Sewry C, Muntoni F, Jungbluth H. Dowling JJ, et al. Neuromuscul Disord. 2011 Jun;21(6):420-7. doi: 10.1016/j.nmd.2011.03.006. Epub 2011 Apr 22. Neuromuscul Disord. 2011. PMID: 21514828

4

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.

Forrest KM, Al-Sarraj S, Sewry C, Buk S, Tan SV, Pitt M, Durward A, McDougall M, Irving M, Hanna MG, Matthews E, Sarkozy A, Hudson J, Barresi R, Bushby K, Jungbluth H, Wraige E. Forrest KM, et al. Neuromuscul Disord. 2011 Jan;21(1):37-40. doi: 10.1016/j.nmd.2010.11.003. Epub 2010 Dec 3. Neuromuscul Disord. 2011. PMID: 21130652

5

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

Forrest K, Mellerio JE, Robb S, Dopping-Hepenstal PJ, McGrath JA, Liu L, Buk SJ, Al-Sarraj S, Wraige E, Jungbluth H. Forrest K, et al. Neuromuscul Disord. 2010 Nov;20(11):709-11. doi: 10.1016/j.nmd.2010.06.003. Epub 2010 Jul 10. Neuromuscul Disord. 2010. PMID: 20624679

6

Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease).

Dlamini N, Jan W, Norwood F, Sheehan J, Spahr R, Al-Sarraj S, Anthony Hulse J, Hughes D, Champion MP, Jungbluth H. Dlamini N, et al. Neuromuscul Disord. 2008 May;18(5):408-9. doi: 10.1016/j.nmd.2008.02.006. Epub 2008 Apr 22. Neuromuscul Disord. 2008. PMID: 18434155 No abstract available.

7

Charcot-Marie-Tooth (CMT) disease 1A with superimposed inflammatory polyneuropathy in children.

Desurkar A, Lin JP, Mills K, Al-Sarraj S, Jan W, Jungbluth H, Wraige E. Desurkar A, et al. Neuropediatrics. 2009 Apr;40(2):85-8. doi: 10.1055/s-0029-1237720. Epub 2009 Oct 6. Neuropediatrics. 2009. PMID: 19809938

8

Histopathology of VGKC antibody-associated limbic encephalitis.

Khan NL, Jeffree MA, Good C, Macleod W, Al-Sarraj S. Khan NL, et al. Neurology. 2009 May 12;72(19):1703-5. doi: 10.1212/WNL.0b013e3181a55eb3. Neurology. 2009. PMID: 19433746 No abstract available.

9

Oculopharyngeal myopathy with inflammation and calcinosis: an unusual phenotype.

Jenkins T, Al-Sarraj S, Rose M. Jenkins T, et al. J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):731-3. doi: 10.1136/jnnp.2007.131557. Epub 2008 Feb 12. J Neurol Neurosurg Psychiatry. 2008. PMID: 18270238

10

Thalamic degeneration with negative prion protein immunostaining.

Janssen JC, Lantos PL, Al-Sarraj S, Rossor MN. Janssen JC, et al. J Neurol. 2000 Jan;247(1):48-51. doi: 10.1007/s004150050009. J Neurol. 2000. PMID: 10701897

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