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Determining the Validity of Conducting Rating Scales in Friedreich Ataxia through Video.
Published in:
Movement Disorders Clinical Practice, 2021, v. 8, n. 5, p. 688, doi. 10.1002/mdc3.13204
By:
- Tai, Geneieve;
- Corben, Louise A.;
- Woodcock, Ian R.;
- Yiu, Eppie M.;
- Delatycki, Martin B.
Publication type:
Article
Neuromyelitis Optica Spectrum Disorder and Anti-Aquaporin 4 Channel Immunoglobulin in an Australian Pediatric Demyelination Cohort.
Published in:
Journal of Child Neurology, 2020, v. 35, n. 4, p. 291, doi. 10.1177/0883073819895191
By:
- Dahan, Ariel;
- Brilot, Fabienne;
- Leventer, Richard;
- Kornberg, Andrew J.;
- Dale, Russell C.;
- Yiu, Eppie M.
Publication type:
Article
Comorbid Medical Conditions in Friedreich Ataxia.
Published in:
Journal of Child Neurology, 2016, v. 31, n. 9, p. 1161, doi. 10.1177/0883073816643408
By:
- Shinnick, Julianna E.;
- Schadt, Kimberly;
- Strawser, Cassandra;
- Wilcox, Nicholas;
- Perlman, Susan L.;
- Wilmot, George R.;
- Gomez, Christopher M.;
- Mathews, Katherine D.;
- Yoon, Grace;
- Zesiewicz, Theresa;
- Hoyle, Chad;
- Subramony, S. H.;
- Yiu, Eppie M.;
- Delatycki, Martin B.;
- Brocht, Alicia F.;
- Farmer, Jennifer M.;
- Lynch, David R.
Publication type:
Article
Clinical and Magnetic Resonance Imaging (MRI) Distinctions Between Tumefactive Demyelination and Brain Tumors in Children.
Published in:
Journal of Child Neurology, 2014, v. 29, n. 5, p. 654, doi. 10.1177/0883073813500713
By:
- Yiu, Eppie M.;
- Laughlin, Suzanne;
- Verhey, Leonard H.;
- Banwell, Brenda L.
Publication type:
Article
Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
Published in:
2019
By:
- 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
Publication type:
journal article
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
Published in:
2018
By:
- 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
Publication type:
journal article
The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia.
Published in:
Cerebellum, 2022, v. 21, n. 6, p. 963, doi. 10.1007/s12311-021-01348-2
By:
- 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.
Publication type:
Article
Nutrition outcomes of disease modifying therapies in spinal muscular atrophy: A systematic review.
Published in:
Muscle & Nerve, 2024, v. 70, n. 5, p. 890, doi. 10.1002/mus.28224
By:
- O'Brien, Katie;
- Nguo, Kay;
- Yiu, Eppie M.;
- Woodcock, Ian R.;
- Billich, Natassja;
- Davidson, Zoe E.
Publication type:
Article
Pilot study of a virtual weight management program for Duchenne muscular dystrophy.
Published in:
Muscle & Nerve, 2024, v. 69, n. 4, p. 459, doi. 10.1002/mus.28065
By:
- 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.
Publication type:
Article
Fracture risk and impact in boys with Duchenne muscular dystrophy: A retrospective cohort study.
Published in:
Muscle & Nerve, 2023, v. 67, n. 6, p. 489, doi. 10.1002/mus.27762
By:
- Liaw, Joshua;
- Billich, Natassja;
- Carroll, Kate;
- Adams, Justine;
- Ryan, Monique M.;
- Yiu, Eppie M.;
- Zacharin, Margaret;
- Simm, Peter;
- Davidson, Zoe E.
Publication type:
Article
Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.
Published in:
Neurorehabilitation & Neural Repair, 2017, v. 31, n. 7, p. 609, doi. 10.1177/1545968317712469
By:
- Milne, Sarah C.;
- Corben, Louise A.;
- Georgiou-Karistianis, Nellie;
- Delatycki, Martin B.;
- Yiu, Eppie M.
Publication type:
Article
Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity.
Published in:
Brain & Behavior, 2018, v. 8, n. 4, p. 1, doi. 10.1002/brb3.919
By:
- Hobbelink, Sanne M. R.;
- Brockley, Cain R.;
- Kennedy, Rachel A.;
- Carroll, Kate;
- de Valle, Katy;
- Rao, Padma;
- Davis, Mark R.;
- Laing, Nigel G.;
- Voermans, Nicol C.;
- Ryan, Monique M.;
- Yiu, Eppie M.
Publication type:
Article
Delivering multidisciplinary neuromuscular care for children via telehealth.
Published in:
Muscle & Nerve, 2022, v. 66, n. 1, p. 31, doi. 10.1002/mus.27557
By:
- 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
Publication type:
Article
Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.
Published in:
Muscle & Nerve, 2011, v. 44, n. 1, p. 135, doi. 10.1002/mus.22076
By:
- Yiu, Eppie M.;
- Klausegger, Alfred;
- Waddell, Leigh B.;
- Grasern, Nikolaus;
- Lloyd, Lyn;
- Tran, Kim;
- North, Kathryn N.;
- Bauer, Johann W.;
- McKelvie, Penelope;
- Chow, C.W.;
- Ryan, Monique M.;
- Murrell, Dedee F.
Publication type:
Article
Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene.
Published in:
Muscle & Nerve, 2008, v. 38, n. 1, p. 930, doi. 10.1002/mus.21013
By:
- Yiu, Eppie M.;
- Ravat, Sangeeta;
- Ryan, Monique M.;
- Shield, Lloyd K.;
- Smith, Lindsay J.;
- Kornberg, Andrew J.
Publication type:
Article
Remediation of Perceptual Deficits in Progressive Auditory Neuropathy: A Case Study.
Published in:
Journal of Clinical Medicine, 2024, v. 13, n. 7, p. 2127, doi. 10.3390/jcm13072127
By:
- Rance, Gary;
- Tomlin, Dani;
- Yiu, Eppie M.;
- Zanin, Julien
Publication type:
Article
Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination.
Published in:
Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0786-3
By:
- Tea, Fiona;
- Lopez, Joseph A.;
- Ramanathan, Sudarshini;
- Merheb, Vera;
- Lee, Fiona X. Z.;
- Zou, Alicia;
- Pilli, Deepti;
- Patrick, Ellis;
- van der Walt, Anneke;
- Monif, Mastura;
- Tantsis, Esther M.;
- Yiu, Eppie M.;
- Vucic, Steve;
- Henderson, Andrew P. D.;
- Fok, Anthony;
- Fraser, Clare L.;
- Lechner-Scott, Jeanette;
- Reddel, Stephen W.;
- Broadley, Simon;
- Barnett, Michael H.
Publication type:
Article
Practical approach to the child presenting with acute generalised weakness.
Published in:
Journal of Paediatrics & Child Health, 2024, v. 60, n. 2/3, p. 41, doi. 10.1111/jpc.16536
By:
- Leung, Rebecca;
- Yiu, Eppie M
Publication type:
Article
Multiple cranial neuropathies in an adolescent with myelin‐oligodendrocyte glycoprotein antibody‐associated disease.
Published in:
Journal of Paediatrics & Child Health, 2023, v. 59, n. 11, p. 1262, doi. 10.1111/jpc.16491
By:
- Leung, Rebecca;
- Mignone, Cristina;
- Kornberg, Andrew J;
- Freeman, Jeremy L;
- Yiu, Eppie M
Publication type:
Article
Fixed dilated pupils: Clues to an ACTA2 mutation allowing early stroke prevention.
Published in:
2016
By:
- Leong, Omega;
- Andersen, Erik;
- Yiu, Eppie M;
- Green, David;
- Mackay, Mark T;
- Elder, James E;
- Howell, Katherine B
Publication type:
journal article
Duchenne muscular dystrophy.
Published in:
Journal of Paediatrics & Child Health, 2015, v. 51, n. 8, p. 759, doi. 10.1111/jpc.12868
By:
- Yiu, Eppie M;
- Kornberg, Andrew J
Publication type:
Article
Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial?
Published in:
Clinical Rehabilitation, 2018, v. 32, n. 5, p. 630, doi. 10.1177/0269215517736903
By:
- Milne, Sarah C.;
- Corben, Louise A.;
- Roberts, Melissa;
- Murphy, Anna;
- Tai, Geneieve;
- Georgiou-Karistianis, Nellie;
- Yiu, Eppie M.;
- Delatycki, Martin B.
Publication type:
Article
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 11, doi. 10.1002/jmd2.12081
By:
- Bursle, Carolyn;
- Yiu, Eppie M.;
- Yeung, Alison;
- Freeman, Jeremy L.;
- Stutterd, Chloe;
- Leventer, Richard J.;
- Vanderver, Adeline;
- Yaplito‐Lee, Joy
Publication type:
Article
Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66266-5
By:
- Perez-Siles, G.;
- Cutrupi, A.;
- Ellis, M.;
- Screnci, R.;
- Mao, D.;
- Uesugi, M.;
- Yiu, Eppie M.;
- Ryan, Monique M.;
- Choi, B. O.;
- Nicholson, G.;
- Kennerson, M. L.
Publication type:
Article
Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 3, p. 339, doi. 10.1002/acn3.51519
By:
- D'Silva, Arlene M.;
- Holland, Sandra;
- Kariyawasam, Didu;
- Herbert, Karen;
- Barclay, Peter;
- Cairns, Anita;
- MacLennan, Suzanna C.;
- Ryan, Monique M.;
- Sampaio, Hugo;
- Smith, Nicholas;
- Woodcock, Ian R.;
- Yiu, Eppie M.;
- Alexander, Ian E.;
- Farrar, Michelle A.
Publication type:
Article
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.
Published in:
Annals of Clinical & Translational Neurology, 2017, v. 4, n. 5, p. 318, doi. 10.1002/acn3.409
By:
- Walsh, Maie;
- Bell, Katrina M.;
- Chong, Belinda;
- Creed, Emma;
- Brett, Gemma R.;
- Pope, Kate;
- Thorne, Natalie P.;
- Sadedin, Simon;
- Georgeson, Peter;
- Phelan, Dean G.;
- Day, Timothy;
- Taylor, Jessica A.;
- Sexton, Adrienne;
- Lockhart, Paul J.;
- Kiers, Lynette;
- Fahey, Michael;
- Macciocca, Ivan;
- Gaff, Clara L.;
- Oshlack, Alicia;
- Yiu, Eppie M.
Publication type:
Article
Progression of Friedreich ataxia: quantitative characterization over 5 years.
Published in:
Annals of Clinical & Translational Neurology, 2016, v. 3, n. 9, p. 684, doi. 10.1002/acn3.332
By:
- Patel, Maya;
- Isaacs, Charles J.;
- Seyer, Lauren;
- Brigatti, Karlla;
- Gelbard, Sarah;
- Strawser, Cassandra;
- Foerster, Debbie;
- Shinnick, Julianna;
- Schadt, Kimberly;
- Yiu, Eppie M.;
- Delatycki, Martin B.;
- Perlman, Susan;
- Wilmot, George R.;
- Zesiewicz, Theresa;
- Mathews, Katherine;
- Gomez, Christopher M.;
- Yoon, Grace;
- Subramony, Sub H.;
- Brocht, Alicia;
- Farmer, Jennifer
Publication type:
Article
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Published in:
2016
By:
- 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.
Publication type:
journal article
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.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 7, p. 1404, doi. 10.1093/hmg/dds557
By:
- 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.
Publication type:
Article
GUÍA BASADA EN LA EVIDENCIA. DIAGNÓSTICO Y MANEJO DEL SÍNDROME DE GUILLAIN-BARRÉ EN DIEZ PASOS.
Published in:
Medicina (Buenos Aires), 2021, v. 81, n. 5, p. 817
By:
- LEONHARD, SONJA E.;
- MANDARAKAS, MELISSA R.;
- AQUINO GONDIM, FRANCISCO DE ASSIS;
- BATEMAN, KATHLEEN;
- BRITO FERREIRA, MARIA L.;
- CORNBLATH, DAVID R.;
- VAN DOORN, PIETER A.;
- DOURADO, MARIO E.;
- HUGHES, RICHARD A. C.;
- ISLAM, BADRUL;
- KUSUNOKI, SUSUMU;
- PARDO, CARLOS A.;
- REISIN, RICARDO;
- SEJVAR, JAMES J.;
- SHAHRIZAILA, NORTINA;
- SOARES, CRISTIANE;
- UMAPATHI, THIRUGNANAM;
- YUZHONG WANG;
- YIU, EPPIE M.;
- WILLISON, HUGH J.
Publication type:
Article
Duchenne muscular dystrophy.
Published in:
2008
By:
- Yiu EM;
- Kornberg AJ;
- Yiu, Eppie M;
- Kornberg, Andrew J
Publication type:
journal article
Duchenne muscular dystrophy.
Published in:
Neurology India, 2008, v. 56, n. 3, p. 236
By:
- Yiu, Eppie M.;
- Kornberg, Andrew J.
Publication type:
Article
GUÍA BASADA EN LA EVIDENCIA. DIAGNÓSTICO Y MANEJO DEL SÍNDROME DE GUILLAIN-BARRÉ EN DIEZ PASOS.
Published in:
Revista Medicina, 2021, v. 81, n. 5, p. 817
By:
- LEONHARD, SONJA E.;
- MANDARAKAS, MELISSA R.;
- DE ASSIS AQUINO GONDIM, FRANCISCO;
- BATEMAN, KATHLEEN;
- BRITO FERREIRA, MARIA L.;
- CORNBLATH, DAVID R.;
- VAN DOORN, PIETER A.;
- DOURADO, MARIO E.;
- HUGHES, RICHARD A. C.;
- ISLAM, BADRUL;
- SUSUMU KUSUNOKI;
- PARDO, CARLOS A.;
- REISIN, RICARDO;
- SEJVAR, JAMES J.;
- SHAHRIZAILA, NORTINA;
- SOARES, CRISTIANE;
- UMAPATHI, THIRUGNANAM;
- YUZHONG WANG;
- YIU, EPPIE M.;
- WILLISON, HUGH J.
Publication type:
Article
Acute Transverse Myelitis and Acute Disseminated Encephalomyelitis in Childhood: Spectrum or Separate Entities?
Published in:
Journal of Child Neurology, 2009, v. 24, n. 3, p. 287, doi. 10.1177/0883073808323522
By:
- Yiu, Eppie M.;
- Kornberg, Andrew J.;
- Ryan, Monique M.;
- Coleman, Lee T.;
- Mackay, Mark T.
Publication type:
Article
HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.
Published in:
Movement Disorders, 2014, v. 29, n. 7, p. 940, doi. 10.1002/mds.25795
By:
- 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.
Publication type:
Article
HFE p.C282Y Heterozygosity Is Associated With Earlier Disease Onset in Friedreich Ataxia.
Published in:
Movement Disorders, 2014, v. 29, p. 940, doi. 10.1002/mds.25795
By:
- 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.
Publication type:
Article
Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1.
Published in:
Movement Disorders, 2009, v. 24, n. 14, p. 2171, doi. 10.1002/mds.22734
By:
- Yiu, Eppie M.;
- Farrell, Sandra A.;
- Soman, Teesta
Publication type:
Article
Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.
Published in:
Journal of the Peripheral Nervous System, 2012, v. 17, n. 3, p. 285, doi. 10.1111/j.1529-8027.2012.00412.x
By:
- Yiu, Eppie M.;
- Ryan, Monique M.
Publication type:
Article
Demyelinating prenatal and infantile developmental neuropathies.
Published in:
Journal of the Peripheral Nervous System, 2012, v. 17, n. 1, p. 32, doi. 10.1111/j.1529-8027.2012.00379.x
By:
- Yiu, Eppie M.;
- Ryan, Monique M.
Publication type:
Article
Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid.
Published in:
2011
By:
- Burns, Joshua;
- Ouvrier, Robert A.;
- Yiu, Eppie M.;
- Ryan, Monique M.
Publication type:
Letter to the Editor
Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A.
Published in:
Journal of the Peripheral Nervous System, 2008, v. 13, n. 3, p. 236, doi. 10.1111/j.1529-8027.2008.00182.x
By:
- Yiu, Eppie M.;
- Burns, Joshua;
- Ryan, Monique M.;
- Ouvrier, Robert A.
Publication type:
Article

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