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Items: 1 to 20 of 38

1.

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmüller H.

J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9.

2.

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.

Winter L, Türk M, Harter PN, Mittelbronn M, Kornblum C, Norwood F, Jungbluth H, Thiel CT, Schlötzer-Schrehardt U, Schröder R.

Acta Neuropathol Commun. 2016 Apr 27;4(1):44. doi: 10.1186/s40478-016-0314-7.

3.

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.

Palmio J, Evilä A, Bashir A, Norwood F, Viitaniemi K, Vihola A, Huovinen S, Straub V, Hackman P, Hirano M, Bushby K, Udd B.

J Neurol Neurosurg Psychiatry. 2016 Apr;87(4):448-50. doi: 10.1136/jnnp-2014-309349. Epub 2015 May 7. No abstract available.

PMID:
25952333
4.

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J.

Neurology. 2015 Feb 3;84(5):523-31. doi: 10.1212/WNL.0000000000001220. Epub 2015 Jan 7.

PMID:
25568292
5.

Fetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies.

Hacohen Y, Jacobson LW, Byrne S, Norwood F, Lall A, Robb S, Dilena R, Fumagalli M, Born AP, Clarke D, Lim M, Vincent A, Jungbluth H.

Neurol Neuroimmunol Neuroinflamm. 2014 Dec 23;2(1):e57. doi: 10.1212/NXI.0000000000000057. eCollection 2015 Feb.

6.

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF.

Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10.

7.

Two recurrent mutations are associated with GNE myopathy in the North of Britain.

Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, Straub V, Lochmüller H.

J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1359-65. doi: 10.1136/jnnp-2013-306314. Epub 2014 Apr 2.

PMID:
24695763
8.

Opsoclonus myoclonus syndrome due to squamous cell carcinoma of the oesophagus.

Rossor AM, Perry F, Botha A, Norwood F.

BMJ Case Rep. 2014 Mar 3;2014. pii: bcr2013202849. doi: 10.1136/bcr-2013-202849.

9.

Gliomatosis cerebri type 1 with extensive involvement of the spinal cord and BRAF V600E mutation.

Fernandez-Vega I, Quirk J, Norwood FL, Sibtain NA, Laxton R, Bodi I.

Pathol Oncol Res. 2014 Jan;20(1):215-20. doi: 10.1007/s12253-013-9732-z. Epub 2013 Dec 19.

PMID:
24353007
10.

Chloride channels in myotonia congenita assessed by velocity recovery cycles.

Tan SV, Z'Graggen WJ, Boërio D, Rayan DR, Norwood F, Ruddy D, Howard R, Hanna MG, Bostock H.

Muscle Nerve. 2014 Jun;49(6):845-57. doi: 10.1002/mus.24069. Epub 2014 May 2.

11.

Classifying idiopathic inflammatory myopathies: comparing the performance of six existing criteria.

Linklater H, Pipitone N, Rose MR, Norwood F, Campbell R, Salvarani C, Scott DL, Gordon P.

Clin Exp Rheumatol. 2013 Sep-Oct;31(5):767-9. Epub 2013 Jun 14.

PMID:
23806844
12.

Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group.

Norwood F, Dhanjal M, Hill M, James N, Jungbluth H, Kyle P, O'Sullivan G, Palace J, Robb S, Williamson C, Hilton-Jones D, Nelson-Piercy C.

J Neurol Neurosurg Psychiatry. 2014 May;85(5):538-43. doi: 10.1136/jnnp-2013-305572. Epub 2013 Jun 11.

PMID:
23757420
13.

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken AF, van der Pol WL, de Coo RI, Manzur AY, Yau S, Abbs S, King A, Lammens M, Hopkins PM, Mohammed S, Treves S, Muntoni F, Wraige E, Davis MR, van Engelen B, Jungbluth H.

Neuromuscul Disord. 2013 Jul;23(7):540-8. doi: 10.1016/j.nmd.2013.03.008. Epub 2013 Apr 28.

PMID:
23628358
14.

Hereditary myopathy with early respiratory failure: occurrence in various populations.

Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B, Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A, Hackman P, Udd B.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):345-53. doi: 10.1136/jnnp-2013-304965. Epub 2013 Apr 19.

PMID:
23606733
15.

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H.

Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12.

PMID:
23606453
16.

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.

Finlayson S, Palace J, Belaya K, Walls TJ, Norwood F, Burke G, Holton JL, Pascual-Pascual SI, Cossins J, Beeson D.

J Neurol Neurosurg Psychiatry. 2013 Oct;84(10):1119-25. doi: 10.1136/jnnp-2012-304716. Epub 2013 Feb 27.

PMID:
23447650
17.

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.

Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F.

Hum Mutat. 2012 Jun;33(6):981-8. doi: 10.1002/humu.22056. Epub 2012 Apr 4. Erratum in: Hum Mutat. 2012 Aug;33(8):1310.

PMID:
22473935
18.

The economic cost of brain disorders in Europe.

Olesen J, Gustavsson A, Svensson M, Wittchen HU, Jönsson B; CDBE2010 study group.; European Brain Council..

Eur J Neurol. 2012 Jan;19(1):155-62. doi: 10.1111/j.1468-1331.2011.03590.x.

PMID:
22175760
19.

Cost of disorders of the brain in Europe 2010.

Gustavsson A, Svensson M, Jacobi F, Allgulander C, Alonso J, Beghi E, Dodel R, Ekman M, Faravelli C, Fratiglioni L, Gannon B, Jones DH, Jennum P, Jordanova A, Jönsson L, Karampampa K, Knapp M, Kobelt G, Kurth T, Lieb R, Linde M, Ljungcrantz C, Maercker A, Melin B, Moscarelli M, Musayev A, Norwood F, Preisig M, Pugliatti M, Rehm J, Salvador-Carulla L, Schlehofer B, Simon R, Steinhausen HC, Stovner LJ, Vallat JM, Van den Bergh P, van Os J, Vos P, Xu W, Wittchen HU, Jönsson B, Olesen J; CDBE2010Study Group..

Eur Neuropsychopharmacol. 2011 Oct;21(10):718-79. doi: 10.1016/j.euroneuro.2011.08.008. Epub 2011 Sep 15. Erratum in: Eur Neuropsychopharmacol. 2012 Mar;22(3):237-8. den Bergh, Peter Van [corrected to Van den Bergh, Peter].

PMID:
21924589
20.

179th ENMC international workshop: pregnancy in women with neuromuscular disorders 5-7 November 2010, Naarden, The Netherlands.

Norwood F, Rudnik-Schöneborn S.

Neuromuscul Disord. 2012 Feb;22(2):183-90. doi: 10.1016/j.nmd.2011.05.009. Epub 2011 Jul 13. No abstract available.

PMID:
21689937

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