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Author/Creator Fawcett, Katherine

1. Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. Issue 5 (11th November 2013)

Authors:
Liu, Yo-Tsen; Hersheson, Joshua; Plagnol, Vincent; Fawcett, Katherine; Duberley, Kate E C; Preza, Elisavet; Hargreaves, Iain P; Chalasani, Annapurna; Laurá, Matilde; Wood, Nick W; Reilly, Mary M; Houlden, Henry
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 85:Issue 5(2014)
Page Start:
493
Record Type:
Journal Article
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2. Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. Issue 7 (10th May 2012)

Authors:
Murphy, Sinead M; Laura, Matilde; Fawcett, Katherine; Pandraud, Amelie; Liu, Yo-Tsen; Davidson, Gabrielle L; Rossor, Alexander M; Polke, James M; Castleman, Victoria; Manji, Hadi; Lunn, Michael P T; Bull, Karen; Ramdharry, Gita; Davis, Mary; Blake, Julian C; Houlden, Henry; Reilly, Mary M
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 83:Issue 7(2012)
Page Start:
706
Record Type:
Journal Article
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4. Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. Issue 2 (27th November 2012)

Authors:
Tucci, Arianna; Kara, Eleanna; Schossig, Anna; Wolf, Nicole I.; Plagnol, Vincent; Fawcett, Katherine; Paisán‐Ruiz, Coro; Moore, Matthew; Hernandez, Dena; Musumeci, Sebastiano; Tennison, Michael; Hennekam, Raoul; Palmeri, Silvia; Malandrini, Alessandro; Raskin, Salmo; Donnai, Dian; Hennig, Corina;...
Journal:
Human mutation
Issue:
Volume 34:Issue 2(2013:Feb.)
Page Start:
296
Record Type:
Journal Article
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5. Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia. Issue 4 (19th February 2013)

Authors:
Hersheson, Joshua; Mencacci, Niccolo E.; Davis, Mary; MacDonald, Nicola; Trabzuni, Daniah; Ryten, Mina; Pittman, Alan; Paudel, Reema; Kara, Eleanna; Fawcett, Katherine; Plagnol, Vincent; Bhatia, Kailash P.; Medlar, Alan J.; Stanescu, Horia C.; Hardy, John; Kleta, Robert; Wood, Nicholas W.; Houlde...
Journal:
Annals of neurology
Issue:
Volume 73:Issue 4(2013:Apr.)
Page Start:
546
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗