McWilliam R - Search Results

1

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

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. Clement E, et al. Among authors: mcwilliam r. Ann Neurol. 2008 Nov;64(5):573-82. doi: 10.1002/ana.21482. Ann Neurol. 2008. PMID: 19067344

2

Growing up with spinal muscular atrophy with respiratory distress (SMARD1).

Hamilton MJ, Longman C, O'Hara A, Kirkpatrick M, McWilliam R. Hamilton MJ, et al. Among authors: mcwilliam r. Neuromuscul Disord. 2015 Feb;25(2):169-71. doi: 10.1016/j.nmd.2014.10.005. Epub 2014 Oct 22. Neuromuscul Disord. 2015. PMID: 25454169

3

Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy.

Mayhew A, Cano S, Scott E, Eagle M, Bushby K, Muntoni F; North Star Clinical Network for Paediatric Neuromuscular Disease. Mayhew A, et al. Dev Med Child Neurol. 2011 Jun;53(6):535-42. doi: 10.1111/j.1469-8749.2011.03939.x. Epub 2011 Mar 17. Dev Med Child Neurol. 2011. PMID: 21410696 Free article.

4

Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome.

Longman C, Tolmie J, McWilliam R, MacLennan A. Longman C, et al. Among authors: mcwilliam r. Clin Dysmorphol. 2003 Apr;12(2):133-6. doi: 10.1097/00019605-200304000-00012. Clin Dysmorphol. 2003. PMID: 12868478

5

Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy.

Scott E, Eagle M, Mayhew A, Freeman J, Main M, Sheehan J, Manzur A, Muntoni F; North Star Clinical Network for Paediatric Neuromuscular Disease. Scott E, et al. Physiother Res Int. 2012 Jun;17(2):101-9. doi: 10.1002/pri.520. Epub 2011 Sep 23. Physiother Res Int. 2012. PMID: 21954141

6

Non-progressive mental retardation and peripheral neuropathy in a mother and her son.

Longman C, Tolmie J, McWilliam R. Longman C, et al. Among authors: mcwilliam r. Clin Dysmorphol. 2001 Oct;10(4):273-6. doi: 10.1097/00019605-200110000-00007. Clin Dysmorphol. 2001. PMID: 11666002

7

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.

Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A. Eunson LH, et al. Among authors: mcwilliam rc. Ann Neurol. 2000 Oct;48(4):647-56. Ann Neurol. 2000. PMID: 11026449

8

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S. Rankin J, et al. Among authors: mcwilliam r. Am J Med Genet A. 2008 Jun 15;146A(12):1530-42. doi: 10.1002/ajmg.a.32331. Am J Med Genet A. 2008. PMID: 18478590

9

Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.

Rodríguez Cruz PM, Sewry C, Beeson D, Jayawant S, Squier W, McWilliam R, Palace J. Rodríguez Cruz PM, et al. Among authors: mcwilliam r. Neuromuscul Disord. 2014 Dec;24(12):1103-10. doi: 10.1016/j.nmd.2014.07.005. Epub 2014 Jul 30. Neuromuscul Disord. 2014. PMID: 25127990 Review.

10

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, Das KB, Varadkar SM, Zuberi S, McWilliam R, Stödberg T, Plecko B, Baumgartner MR, Maier O, Calvert S, Riney K, Wolf NI, Livingston JH, Bala P, Morel CF, Feillet F, Raimondi F, Del Giudice E, Chong WK, Pitt M, Clayton PT. Mills PB, et al. Among authors: mcwilliam r. Brain. 2014 May;137(Pt 5):1350-60. doi: 10.1093/brain/awu051. Epub 2014 Mar 18. Brain. 2014. PMID: 24645144 Free PMC article.

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