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Livres
Articles (37)
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Duchenne muscular dystrophy

Yiu, Eppie M, Kornberg, Andrew J

Journal:

Journal of Paediatrics and Child Health

Année:

2015

Langue:

english

Fichier:

PDF, 105 KB

english, 2015

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

Année:

2017

Langue:

english

Fichier:

PDF, 724 KB

english, 2017

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:

Gait & Posture

Année:

2018

Langue:

english

Fichier:

PDF, 486 KB

english, 2018

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:

Muscle & Nerve

Année:

2008

Langue:

english

Fichier:

PDF, 96 KB

english, 2008

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:

Muscle & Nerve

Année:

2011

Langue:

english

Fichier:

PDF, 651 KB

english, 2011

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

Année:

2015

Langue:

english

Fichier:

PDF, 254 KB

english, 2015

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

Année:

2020

Fichier:

PDF, 1.09 MB

2020

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

Année:

2009

Langue:

english

Fichier:

PDF, 349 KB

english, 2009

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

Année:

2008

Langue:

english

Fichier:

PDF, 192 KB

english, 2008

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

Année:

2011

Langue:

english

Fichier:

PDF, 438 KB

english, 2011

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

Année:

2009

Langue:

english

Fichier:

PDF, 179 KB

english, 2009

Demyelinating prenatal and infantile developmental neuropathies

Eppie M. Yiu, Monique M. Ryan

Journal:

Journal of the Peripheral Nervous System

Année:

2012

Langue:

english

Fichier:

PDF, 784 KB

english, 2012

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

Année:

2009

Langue:

english

Fichier:

PDF, 39 KB

english, 2009

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

Année:

2009

Langue:

english

Fichier:

PDF, 48 KB

english, 2009

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

Année:

2010

Langue:

english

Fichier:

PDF, 36 KB

english, 2010

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

Eppie M. Yiu, Monique M. Ryan

Journal:

Journal of the Peripheral Nervous System

Année:

2012

Langue:

english

Fichier:

PDF, 751 KB

english, 2012

Rituximab for treatment of refractory childhood chronic inflammatory demyelinating polyneuropathy

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

Journal:

Clinical Neurophysiology

Année:

2008

Langue:

english

Fichier:

PDF, 44 KB

english, 2008

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

Année:

2008

Langue:

english

Fichier:

PDF, 35 KB

english, 2008

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

Année:

2014

Langue:

english

Fichier:

PDF, 154 KB

english, 2014

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

Yiu, Eppie M.

Année:

2015

Langue:

english

Fichier:

PDF, 5.19 MB

english, 2015

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

Année:

2015

Langue:

english

Fichier:

PDF, 222 KB

english, 2015

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

Année:

2015

Langue:

english

Fichier:

PDF, 1.76 MB

english, 2015

Update on emerging therapies for multiple sclerosis

Yiu, Eppie M, Banwell, Brenda

Journal:

Expert Review of Neurotherapeutics

Année:

2010

Langue:

english

Fichier:

PDF, 336 KB

english, 2010

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

Année:

2016

Langue:

english

Fichier:

PDF, 731 KB

english, 2016

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

Année:

2015

Langue:

english

Fichier:

PDF, 599 KB

english, 2015

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

Année:

2016

Langue:

english

Fichier:

PDF, 375 KB

english, 2016

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

Année:

2016

Langue:

english

Fichier:

PDF, 1.71 MB

english, 2016

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

Année:

2016

Langue:

english

Fichier:

PDF, 763 KB

english, 2016

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

Année:

2017

Langue:

english

Fichier:

PDF, 613 KB

english, 2017

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

Année:

2017

Langue:

english

Fichier:

PDF, 553 KB

english, 2017

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

Année:

2017

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2017

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

Année:

2017

Langue:

english

Fichier:

PDF, 460 KB

english, 2017

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

Année:

2018

Langue:

english

Fichier:

PDF, 444 KB

english, 2018

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

Année:

2018

Langue:

english

Fichier:

PDF, 400 KB

english, 2018

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

Année:

2019

Langue:

english

Fichier:

PDF, 454 KB

english, 2019

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

Année:

2019

Langue:

english

Fichier:

PDF, 3.02 MB

english, 2019

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

Année:

2020

Fichier:

PDF, 11.34 MB

2020