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Items: 1 to 20 of 78

1.

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Schon K, Spasic-Boskovic O, Brugger K, Graves TD, Abbs S, Park SM, Ambegaonkar G, Armstrong R.

Neurogenetics. 2017 Jan;18(1):49-55. doi: 10.1007/s10048-016-0504-2.

2.

New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study.

Plaskocinska I, Shipman H, Drummond J, Thompson E, Buchanan V, Newcombe B, Hodgkin C, Barter E, Ridley P, Ng R, Miller S, Dann A, Licence V, Webb H, Tan LT, Daly M, Ayers S, Rufford B, Earl H, Parkinson C, Duncan T, Jimenez-Linan M, Sagoo GS, Abbs S, Hulbert-Williams N, Pharoah P, Crawford R, Brenton JD, Tischkowitz M.

J Med Genet. 2016 Oct;53(10):655-61. doi: 10.1136/jmedgenet-2016-103902.

3.

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.

Hague J, Delon I, Brugger K, Martin H, Abbs S, Park SM.

Am J Med Genet A. 2016 Jun;170(6):1608-12. doi: 10.1002/ajmg.a.37631.

PMID:
26996280
4.

Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.

Luchetti A, Walsh D, Rodger F, Clark G, Martin T, Irving R, Sanna M, Yao M, Robledo M, Neumann HP, Woodward ER, Latif F, Abbs S, Martin H, Maher ER.

Int J Endocrinol. 2015;2015:138573. doi: 10.1155/2015/138573.

5.

Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.

Taylor A, Delon I, Allinson K, Trotman J, Liu H, Abbs S, Tischkowitz M.

J Neuropathol Exp Neurol. 2015 Apr;74(4):288-92. doi: 10.1097/NEN.0000000000000178.

PMID:
25756585
6.

Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy.

Plumb LA, Marlais M, Bierzynska A, Martin H, Brugger K, Abbs S, Saleem MA.

BMC Nephrol. 2014 May 9;15:76. doi: 10.1186/1471-2369-15-76.

7.

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA.

J Am Soc Nephrol. 2013 Dec;24(12):1945-54. doi: 10.1681/ASN.2012100985.

8.

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.

Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, Abbs S, Robb S, Newton T, Moss C, Birchall D, Sugimoto H, Bushby K, Guglieri M, Muntoni F, Nishino I, Straub V.

Neuromuscul Disord. 2013 Jul;23(7):549-56. doi: 10.1016/j.nmd.2013.04.002.

PMID:
23692895
9.

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.

PMID:
23628358
10.

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.

Dlamini N, Josifova DJ, Paine SM, Wraige E, Pitt M, Murphy AJ, King A, Buk S, Smith F, Abbs S, Sewry C, Jacques TS, Jungbluth H.

Neuromuscul Disord. 2013 May;23(5):391-8. doi: 10.1016/j.nmd.2013.02.001.

PMID:
23518311
11.

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.

Scoto M, Cullup T, Cirak S, Yau S, Manzur AY, Feng L, Jacques TS, Anderson G, Abbs S, Sewry C, Jungbluth H, Muntoni F.

Eur J Hum Genet. 2013 Nov;21(11):1249-52. doi: 10.1038/ejhg.2013.31.

12.

Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

Maggi L, Scoto M, Cirak S, Robb SA, Klein A, Lillis S, Cullup T, Feng L, Manzur AY, Sewry CA, Abbs S, Jungbluth H, Muntoni F.

Neuromuscul Disord. 2013 Mar;23(3):195-205. doi: 10.1016/j.nmd.2013.01.004.

PMID:
23394784
13.

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H.

Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497.

14.

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.

Cullup T, Lamont PJ, Cirak S, Damian MS, Wallefeld W, Gooding R, Tan SV, Sheehan J, Muntoni F, Abbs S, Sewry CA, Dubowitz V, Laing NG, Jungbluth H.

Neuromuscul Disord. 2012 Dec;22(12):1096-104. doi: 10.1016/j.nmd.2012.06.007.

PMID:
22784669
15.

Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.

Clement EM, Feng L, Mein R, Sewry CA, Robb SA, Manzur AY, Mercuri E, Godfrey C, Cullup T, Abbs S, Muntoni F.

Neuromuscul Disord. 2012 Jun;22(6):522-7. doi: 10.1016/j.nmd.2012.01.010.

PMID:
22480491
16.

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. Erratum in: Hum Mutat. 2012 Aug;33(8):1310.

PMID:
22473935
17.

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.

Trump N, Cullup T, Verheij JB, Manzur A, Muntoni F, Abbs S, Jungbluth H.

Neuromuscul Disord. 2012 May;22(5):384-8. doi: 10.1016/j.nmd.2011.11.004.

PMID:
22153990
18.

Clinical utility gene card for: Multi-minicore disease.

Lillis S, Abbs S, Ferreiro A, Muntoni F, Jungbluth H.

Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.180. No abstract available.

19.

Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.

Godfrey C, Clement E, Abbs S, Muntoni F.

Muscle Nerve. 2011 Sep;44(3):388-92. doi: 10.1002/mus.22068.

PMID:
21996799
20.

Clinical utility gene card for: Central core disease.

Lillis S, Abbs S, Mueller CR, Muntoni F, Jungbluth H.

Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.179. No abstract available.

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