By Dr Emily Cathlin Oates

Conference Papers

Rees M; Fukuzawa A; Nikoopour R; Kho A; Qi J; Fernandez-Garcia M; Wraige E; Cirak S; Pfuhl M; Fluss J; Muntoni F; Sarkozy A; Schroeder R; Voermans N; Wilichowski E; Matthews E; Oates E; Ferreiro A; Jungbluth H; Gautel M, 2019, 'Disruptive recessive TTN missense mutations cause a wide range of clinico-pathological features', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, DENMARK, Copenhagen, pp. S135 - S135, presented at 24th International Annual Congress of the World-Muscle-Society (WMS), DENMARK, Copenhagen, 01 October 2019 - 05 October 2019, http://dx.doi.org/10.1016/j.nmd.2019.06.348

Donkervoort S; Dowling JJ; Laporte J; MacArthur D; Bönnemann CG; Beggs A; Bonne G; Dubowitz V; Goldberg M; Goldberg M; Herault Y; Karakaya M; Lennox A; Malfatti E; Mathews K; Mora M; Nishino I; Oates E; Rutkowski A; Spring M; Voermans N; Warman J; Willer T; Xiong H; Zaharieva I; Zanoteli E, 2019, '214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015', in Neuromuscular Disorders, pp. 644 - 650, http://dx.doi.org/10.1016/j.nmd.2019.07.002

Oates E; Yau K; Jones K; Smith J; Cummings B; Farrar M; Cooper S; Lek M; Hoffman E; Straub V; Ferreiro A; Udd B; Beggs A; Bonnemann C; North K; MacArthur D; Granzier H; Muntoni F; Davis M; Laing N, 2017, 'Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, FRANCE, Saint Malo, pp. S237 - S238, presented at 22nd International Annual Congress of the World-Muscle-Society (WMS), FRANCE, Saint Malo, 03 October 2017 - 07 October 2017, http://dx.doi.org/10.1016/j.nmd.2017.06.513

Oates EC; Yau KS; Jones K; Smith JE; Donkervoort S; Swanson L; Charlton A; Brammah S; Peduto AJ; Richard I; Ferreiro A; Man EH; Bushby K; Straub V; Udd B; Lek M; MacArthur DG; Granzier H; Beggs A; Bonnemann CG; North KN; Davis MR; Laing NG, 2017, 'Clinical characterisation of a large international congenital titinopathy cohort', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, pp. S37 - S37, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000558785000110&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Zaharieva I; Sarkozy A; Manzur A; Munot P; O'Grady G; Rendu J; Amthor H; Servais L; Malfatti E; Dixon J; Poke G; Donkervoort S; Foley AR; Neto OLA; Davis MR; Urtizberea JA; Bastaki L; Romero NB; Oates EC; Holmes C; Williams G; Sframeli M; Yum S; Medne L; Roy SQ; Faure J; Feng L; Morgan JE; Bonnemann CG; Phadke R; Sewry CA; Treves S; Muntoni F, 2017, 'STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, pp. S39 - S39, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000558785000116&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Zaharieva IT; Sarkozy A; Manzur A; O'Grady G; Sharpe J; Dixon J; Poke G; Oates EC; Colombo I; Sframeli M; Feng L; Phadke R; Sewry CA; Duchen M; Morgan JE; Treves S; Muntoni F, 2016, 'STAC3 p.Trp284Ser, a hotspot mutation for congenital myopathy with distinctive dysmorphic features and malignant hyperthermia', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, pp. S39 - S39, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000558787300127&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Oates EC; Yau KS; Charlton A; Brammah S; Farrar MA; Sampaio H; Lamont PL; Mowat D; Fitzsimons RB; Corbett A; Ryan MM; Teoh HL; O'Grady GL; Ghaoui R; Kaur S; Lek M; North KN; MacArthur DG; Davis MR; Laing NG; Clarke NF, 2014, 'Analysis of a large patient cohort with recessive truncating TTN mutations reveals novel clinical features and a diverse range of muscle pathologies', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, GERMANY, Berlin, pp. 805 - 805, presented at 19th International Congress of the World-Muscle-Society, GERMANY, Berlin, 07 October 2014 - 11 October 2014, http://dx.doi.org/10.1016/j.nmd.2014.06.049

Oates EC; Rosser AM; Hafezparast M; Lek M; Scoto M; Greensmith L; Auer-Grumbach M; Schule R; Herrmann DN; Clarke NF; MacArthur DG; Zuechner S; Muntoni F; Reilly MM; North KN, 2013, 'Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP)', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, CA, pp. 798 - 798, presented at 18th International Congress of the World-Muscle-Society (WMS), CA, 01 October 2013 - 05 October 2013, http://dx.doi.org/10.1016/j.nmd.2013.06.560

Rossor AM; Oates EC; Hafezparast M; Cottenie E; Houlden H; Scoto M; Foley R; Clark N; Hermann DN; Grumbach AM; Zuchner S; Muntoni F; North K; Reilly MM, 2013, 'A WINDOW INTO MOTOR NEURON DEVELOPMENT: WHOLE EXOME SEQUENCING OF DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY (DCSMA)', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY-BLACKWELL, FRANCE, Saint Malo, pp. 96 - 97, presented at Meeting of the Peripheral-Nerve-Society, FRANCE, Saint Malo, 29 June 2013 - 03 July 2013, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000320620200247&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Oates EC; Ilkovski B; North KN; Clarke NF, 2011, 'New histopathlogical features in Centronuclear Myopathy caused by DNM2 mutations - clues to disease pathogenesis', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, PORTUGAL, Algarve, pp. 693 - 693, presented at 16th International Congress of the World-Muscle-Society, PORTUGAL, Algarve, 18 October 2011 - 22 October 2011, http://dx.doi.org/10.1016/j.nmd.2011.06.931

Oates EC; Clarke NF; Reddel SW; North KN, 2009, 'Insights into the pathological basis of autosomal dominant distal spinal muscular atrophy from a large Australian family', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, SWITZERLAND, Geneva, pp. 596 - 597, presented at 14th International Congress of the World-Muscle-Society, SWITZERLAND, Geneva, 09 September 2009 - 12 September 2009, http://dx.doi.org/10.1016/j.nmd.2009.06.169

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