Eppie M. Yiu: search on Z-Library

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1

Psychometric properties of outcome measures evaluating decline in gait in cerebellar ataxia: a systematic review

Milne, Sarah C., Murphy, Anna, Georgiou-Kristian’s, Nellie, Yiu, Eppie M., Delatycki, Martin B., Corben, Louise A.

Journal:

Year:

2018

Language:

english

File:

PDF, 486 KB

english, 2018

2

Expanding the phenotypic spectrum associated with mutations of DYNC1H1

Beecroft, Sarah J., McLean, Catriona A., Delatycki, Martin B, Koshy, Kurian, Yiu, Eppie, Haliloglu, Goknur, Orhan, Diclehan, Lamont, Phillipa J., Davis, Mark R., Laing, Nigel G., Ravenscroft, Gianina

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 724 KB

english, 2017

3

Duchenne muscular dystrophy

Yiu, Eppie M, Kornberg, Andrew J

Journal:

Journal of Paediatrics and Child Health

Year:

2015

Language:

english

File:

PDF, 105 KB

english, 2015

4

Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene

Eppie M. Yiu, Sangeeta Ravat, Monique M. Ryan, Lloyd K. Shield, Lindsay J. Smith, Andrew J. Kornberg

Journal:

Year:

2008

Language:

english

File:

PDF, 96 KB

english, 2008

5

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency

Eppie M. Yiu, Alfred Klausegger, Leigh B. Waddell, Nikolaus Grasern, Lyn Lloyd, Kim Tran, Kathryn N. North, Johann W. Bauer, Penelope McKelvie, C.W. Chow, Monique M. Ryan, Dedee F. Murrell

Journal:

Year:

2011

Language:

english

File:

PDF, 651 KB

english, 2011

6

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

Yiu, Eppie M., Tai, Geneieve, Peverill, Roger E., Lee, Katherine J., Croft, Kevin D., Mori, Trevor A., Scheiber-Mojdehkar, Barbara, Sturm, Brigitte, Praschberger, Monika, Vogel, Adam P., Rance, Gary,

Journal:

Journal of Neurology

Year:

2015

Language:

english

File:

PDF, 254 KB

english, 2015

7

The effects of calf massage in boys with Duchenne muscular dystrophy: a prospective interventional study

Carroll, Kate, Yiu, Eppie M., Ryan, Monique M., Kennedy, Rachel A., de Valle, Katy

Journal:

Disability & Rehabilitation

Year:

2020

File:

PDF, 1.09 MB

2020

8

Rituximab for treatment of refractory childhood chronic inflammatory demyelinating polyneuropathy

Eppie M. Yiu, Lloyd K. Shield, Chiara Tewierik, Monique M. Ryan

Journal:

Clinical Neurophysiology

Year:

2008

Language:

english

File:

PDF, 44 KB

english, 2008

9

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, Mi

Journal:

Annals of Neurology

Year:

2016

Language:

english

File:

PDF, 375 KB

english, 2016

10

Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial

Joshua Burns, Robert A Ouvrier, Eppie M Yiu, Pathma D Joseph, Andrew J Kornberg, Michael C Fahey, Monique M Ryan

Journal:

The Lancet Neurology

Year:

2009

Language:

english

File:

PDF, 179 KB

english, 2009

11

Early-onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

Eppie M. Yiu, Lloyd K. Shield, Leslie J. Roberts, Desirée du Sart, Belinda Chong, Justin O’Day, Monique M. Ryan

Journal:

Clinical Neurophysiology

Year:

2008

Language:

english

File:

PDF, 35 KB

english, 2008

12

Update on emerging therapies for multiple sclerosis

Yiu, Eppie M, Banwell, Brenda

Journal:

Expert Review of Neurotherapeutics

Year:

2010

Language:

english

File:

PDF, 336 KB

english, 2010

13

123. The clinical spectrum of X-Linked charcot-marie tooth disease in childhood

Eppie M. Yiu, Nimeshan Geevasinga, Garth A. Nicholson, Robert A. Ouvrier, Monique M. Ryan

Journal:

Journal of Clinical Neuroscience

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

14

Fixed dilated pupils: Clues to an ACTA2 mutation allowing early stroke prevention

Leong, Omega, Andersen, Erik, Yiu, Eppie M, Green, David, Mackay, Mark T, Elder, James E, Howell, Katherine B

Journal:

Journal of Paediatrics and Child Health

Year:

2016

Language:

english

File:

PDF, 763 KB

english, 2016

15

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

Journal:

Clinical Rehabilitation

Year:

2017

Language:

english

File:

PDF, 460 KB

english, 2017

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

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2015

Language:

english

File:

PDF, 1.76 MB

english, 2015

17

59. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency

Eppie M. Yiu, Alfred Klausegger, Leigh Waddell, Kim Tran, C.W. Chow, Kathryn North, Dedee Murrell, Monique M. Ryan

Journal:

Journal of Clinical Neuroscience

Year:

2010

Language:

english

File:

PDF, 36 KB

english, 2010

18

Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A

Eppie M. Yiu, Joshua Burns, Monique M. Ryan, Robert A. Ouvrier

Journal:

Journal of the Peripheral Nervous System

Year:

2008

Language:

english

File:

PDF, 192 KB

english, 2008

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.

Journal:

Movement Disorders

Year:

2014

Language:

english

File:

PDF, 154 KB

english, 2014

20

Neuromuscular Disorders of Infancy, Childhood, and Adolescence || Congenital and Early Infantile Neuropathies

Year:

2015

Language:

english

File:

PDF, 5.19 MB

english, 2015

21

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

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.

Journal:

Scientific Reports

Year:

2020

File:

PDF, 11.34 MB

2020

22

Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity

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.

Journal:

Brain and Behavior

Year:

2018

Language:

english

File:

PDF, 400 KB

english, 2018

23

Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination

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

Journal:

Acta Neuropathologica Communications

Year:

2019

Language:

english

File:

PDF, 3.02 MB

english, 2019

24

Infantile-Onset Myelin Protein Zero– Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia

Yiu, Eppie M., Wanigasinghe, Jithangi, Mackay, Mark T., Gonzales, Michael, Nicholson, Garth A., Ryan, Monique M.

Journal:

Seminars in Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 1.26 MB

english, 2017

25

Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1

Eppie M. Yiu, Sandra A. Farrell, Teesta Soman

Journal:

Movement Disorders

Year:

2009

Language:

english

File:

PDF, 349 KB

english, 2009

26

Demyelinating prenatal and infantile developmental neuropathies

Eppie M. Yiu, Monique M. Ryan

Journal:

Journal of the Peripheral Nervous System

Year:

2012

Language:

english

File:

PDF, 784 KB

english, 2012

27

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.

Journal:

Neurobiology of Disease

Year:

2016

Language:

english

File:

PDF, 1.71 MB

english, 2016

28

Probing the multifactorial source of hand dysfunction in Friedreich ataxia

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

Journal:

Journal of Clinical Neuroscience

Year:

2019

Language:

english

File:

PDF, 454 KB

english, 2019

29

234. Early onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

Eppie M. Yiu, Lloyd K. Shield, Leslie K. Roberts, Justin O’Day, Belinda Chong, Desirée du Sart, Monique M. Ryan

Journal:

Journal of Clinical Neuroscience

Year:

2009

Language:

english

File:

PDF, 48 KB

english, 2009

30

Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid

Joshua Burns, Robert A. Ouvrier, Eppie M. Yiu, Monique M. Ryan

Journal:

Journal of the Peripheral Nervous System

Year:

2011

Language:

english

File:

PDF, 438 KB

english, 2011

31

Progress in the treatment of Friedreich ataxia

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

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2018

Language:

english

File:

PDF, 444 KB

english, 2018

32

Gastrocnemius and soleus spasticity and muscle length in Friedreich’s ataxia

Milne, Sarah C., Corben, Louise A., Yiu, Eppie, Delatycki, Martin B., Georgiou-Karistianis, Nellie

Journal:

Journal of Clinical Neuroscience

Year:

2016

Language:

english

File:

PDF, 731 KB

english, 2016

33

Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review

Milne, Sarah C., Corben, Louise A., Georgiou-Karistianis, Nellie, Delatycki, Martin B., Yiu, Eppie M.

Journal:

Neurorehabilitation and Neural Repair

Year:

2017

Language:

english

File:

PDF, 613 KB

english, 2017

34

A longitudinal study of the Friedreich Ataxia Impact Scale

Tai, Geneieve, Yiu, Eppie M., Corben, Louise A., Delatycki, Martin B.

Journal:

Journal of the Neurological Sciences

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

35

How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?

Tai, Geneieve, Yiu, Eppie M., Delatycki, Martin B., Corben, Louise A.

Journal:

Journal of Neurology

Year:

2017

Language:

english

File:

PDF, 553 KB

english, 2017

36

Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset

Eppie M. Yiu, Monique M. Ryan

Journal:

Journal of the Peripheral Nervous System

Year:

2012

Language:

english

File:

PDF, 751 KB

english, 2012

37

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

Marsh, Ashley P.L., Lukic, Vesna, Pope, Kate, Bromhead, Catherine, Tankard, Rick, Ryan, Monique M., Yiu, Eppie M., Sim, Joe C.H., Delatycki, Martin B., Amor, David J., McGillivray, George, Sherr, Elli

Journal:

Neurology: Genetics

Year:

2015

Language:

english

File:

PDF, 599 KB

english, 2015

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