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1.

Pilot study of a virtual weight management program for Duchenne muscular dystrophy.

Billich, Natassja; Bray, Paula; Truby, Helen; Evans, Maureen; Carroll, Kate; de Valle, Katy; Adams, Justine; Kennedy, Rachel A; Villano, Daniella; Kornberg, Andrew J; Yiu, Eppie M; Ryan, Monique M; Davidson, Zoe E.

Muscle Nerve; 69(4): 459-466, 2024 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-38353295

2.

Practical approach to the child presenting with acute generalised weakness.

Leung, Rebecca; Yiu, Eppie M.

J Paediatr Child Health; 60(2-3): 41-46, 2024.

Artículo en Inglés | MEDLINE | ID: mdl-38545899

3.

Fracture risk and impact in boys with Duchenne muscular dystrophy: A retrospective cohort study.

Liaw, Joshua; Billich, Natassja; Carroll, Kate; Adams, Justine; Ryan, Monique M; Yiu, Eppie M; Zacharin, Margaret; Simm, Peter; Davidson, Zoe E.

Muscle Nerve; 67(6): 489-496, 2023 06.

Artículo en Inglés | MEDLINE | ID: mdl-36478256

4.

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.

Yiu, Eppie M; Bray, Paula; Baets, Jonathan; Baker, Steven K; Barisic, Nina; de Valle, Katy; Estilow, Timothy; Farrar, Michelle A; Finkel, Richard S; Haberlová, Jana; Kennedy, Rachel A; Moroni, Isabella; Nicholson, Garth A; Ramchandren, Sindhu; Reilly, Mary M; Rose, Kristy; Shy, Michael E; Siskind, Carly E; Yum, Sabrina W; Menezes, Manoj P; Ryan, Monique M; Burns, Joshua.

J Neurol Neurosurg Psychiatry; 93(5): 530-538, 2022 05.

Artículo en Inglés | MEDLINE | ID: mdl-35140138

5.

The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia.

Milne, Sarah C; Kim, Seok Hun; Murphy, Anna; Larkindale, Jane; Farmer, Jennifer; Malapira, Ritchie; Danoudis, Mary; Shaw, Jessica; Ramakrishnan, Tyagi; Rasouli, Fatemeh; Yiu, Eppie M; Georgiou-Karistianis, Nellie; Tai, Geneieve; Zesiewicz, Theresa; Delatycki, Martin B; Corben, Louise A.

Cerebellum; 21(6): 963-975, 2022 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-34855135

6.

Delivering multidisciplinary neuromuscular care for children via telehealth.

Carroll, Kate; Adams, Justine; de Valle, Katy; Forbes, Robin; Kennedy, Rachel A; Kornberg, Andrew J; Vandeleur, Moya; Villano, Daniella; Woodcock, Ian R; Yiu, Eppie M; Ryan, Monique M; Davidson, Zoe.

Muscle Nerve; 66(1): 31-38, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35426158

7.

The severe epilepsy syndromes of infancy: A population-based study.

Howell, Katherine B; Freeman, Jeremy L; Mackay, Mark T; Fahey, Michael C; Archer, John; Berkovic, Samuel F; Chan, Eunice; Dabscheck, Gabriel; Eggers, Stefanie; Hayman, Michael; Holberton, James; Hunt, Rodney W; Jacobs, Susan E; Kornberg, Andrew J; Leventer, Richard J; Mandelstam, Simone; McMahon, Jacinta M; Mefford, Heather C; Panetta, Julie; Riseley, Jessica; Rodriguez-Casero, Victoria; Ryan, Monique M; Schneider, Amy L; Smith, Lindsay J; Stark, Zornitza; Wong, Flora; Yiu, Eppie M; Scheffer, Ingrid E; Harvey, A Simon.

Epilepsia; 62(2): 358-370, 2021 02.

Artículo en Inglés | MEDLINE | ID: mdl-33475165

8.

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Mandarakas, Melissa R; Menezes, Manoj P; Rose, Kristy J; Shy, Rosemary; Eichinger, Kate; Foscan, Maria; Estilow, Timothy; Kennedy, Rachel; Herbert, Karen; Bray, Paula; Refshauge, Kathryn; Ryan, Monique M; Yiu, Eppie M; Farrar, Michelle; Sampaio, Hugo; Moroni, Isabella; Pagliano, Emanuela; Pareyson, Davide; Yum, Sabrina W; Herrmann, David N; Acsadi, Gyula; Shy, Michael E; Burns, Joshua; Sanmaneechai, Oranee.

Brain; 141(12): 3319-3330, 2018 12 01.

Artículo en Inglés | MEDLINE | ID: mdl-30476010

9.

Nusinersen for SMA: expanded access programme.

Farrar, Michelle A; Teoh, Hooi Ling; Carey, Kate A; Cairns, Anita; Forbes, Robin; Herbert, Karen; Holland, Sandra; Jones, Kristi J; Menezes, Manoj P; Morrison, Margot; Munro, Kate; Villano, Daniella; Webster, Richard; Woodcock, Ian R; Yiu, Eppie M; Sampaio, Hugo; Ryan, Monique M.

J Neurol Neurosurg Psychiatry; 89(9): 937-942, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-29549190

10.

Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial?

Milne, Sarah C; Corben, Louise A; Roberts, Melissa; Murphy, Anna; Tai, Geneieve; Georgiou-Karistianis, Nellie; Yiu, Eppie M; Delatycki, Martin B.

Clin Rehabil; 32(5): 630-643, 2018 May.

Artículo en Inglés | MEDLINE | ID: mdl-29072092

11.

Multiple cranial neuropathies in an adolescent with myelin-oligodendrocyte glycoprotein antibody-associated disease.

Leung, Rebecca; Mignone, Cristina; Kornberg, Andrew J; Freeman, Jeremy L; Yiu, Eppie M.

J Paediatr Child Health; 59(11): 1262-1263, 2023 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-37698147

12.

Progress in the treatment of Friedreich ataxia.

Tai, Geneieve; Corben, Louise A; Yiu, Eppie M; Milne, Sarah C; Delatycki, Martin B.

Neurol Neurochir Pol; 52(2): 129-139, 2018 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-29499876

13.

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Galea, Charles A; Huq, Aamira; Lockhart, Paul J; Tai, Geneieve; Corben, Louise A; Yiu, Eppie M; Gurrin, Lyle C; Lynch, David R; Gelbard, Sarah; Durr, Alexandra; Pousset, Francoise; Parkinson, Michael; Labrum, Robyn; Giunti, Paola; Perlman, Susan L; Delatycki, Martin B; Evans-Galea, Marguerite V.

Ann Neurol; 79(3): 485-95, 2016 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-26704351

14.

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation.

Perez-Siles, Gonzalo; Ly, Carolyn; Grant, Adrienne; Drew, Alexander P; Yiu, Eppie M; Ryan, Monique M; Chuang, David T; Tso, Shih-Chia; Nicholson, Garth A; Kennerson, Marina L.

Neurobiol Dis; 94: 237-44, 2016 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-27388934

15.

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.

Kennerson, Marina L; Yiu, Eppie M; Chuang, David T; Kidambi, Aditi; Tso, Shih-Chia; Ly, Carolyn; Chaudhry, Rabia; Drew, Alexander P; Rance, Gary; Delatycki, Martin B; Züchner, Stephan; Ryan, Monique M; Nicholson, Garth A.

Hum Mol Genet; 22(7): 1404-16, 2013 Apr 01.

Artículo en Inglés | MEDLINE | ID: mdl-23297365

16.

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools.

Tai, Geneieve; Corben, Louise A; Gurrin, Lyle; Yiu, Eppie M; Churchyard, Andrew; Fahey, Michael; Hoare, Brian; Downie, Sharon; Delatycki, Martin B.

J Neurol Neurosurg Psychiatry; 86(6): 660-6, 2015 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-25112308

17.

Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Mandarakas, Melissa R; Menezes, Manoj P; Rose, Kristy J; Shy, Rosemary; Eichinger, Kate; Foscan, Maria; Estilow, Timothy; Kennedy, Rachel; Herbert, Karen; Bray, Paula; Refshauge, Kathryn; Ryan, Monique M; Yiu, Eppie M; Farrar, Michelle; Sampaio, Hugo; Moroni, Isabella; Pagliano, Emanuela; Pareyson, Davide; Yum, Sabrina W; Herrmann, David N; Acsadi, Gyula; Shy, Michael E; Burns, Joshua; Sanmaneechai, Oranee.

Brain; 142(4): e14, 2019 04 01.

Artículo en Inglés | MEDLINE | ID: mdl-30649217

18.

Duchenne muscular dystrophy.

Yiu, Eppie M; Kornberg, Andrew J.

J Paediatr Child Health; 51(8): 759-64, 2015 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-25752877

19.

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.

Delatycki, Martin B; Tai, Geneieve; Corben, Louise; Yiu, Eppie M; Evans-Galea, Marguerite V; Stephenson, Sarah E M; Gurrin, Lyle; Allen, Katrina J; Lynch, David; Lockhart, Paul J.

Mov Disord; 29(7): 940-3, 2014 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-24390816

20.

Remediation of Perceptual Deficits in Progressive Auditory Neuropathy: A Case Study.

Rance, Gary; Tomlin, Dani; Yiu, Eppie M; Zanin, Julien.

J Clin Med; 13(7)2024 Apr 06.

Artículo en Inglés | MEDLINE | ID: mdl-38610891

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