Richard Roxburgh

Richard Roxburgh

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Richard Roxburgh

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Spinocerebellar ataxia type 2-neuronopathy or neuropathy?

Authors:
Luciana Pelosi Rosa Iodice Antonella Antenora Dean Kilfoyle Eoin Mulroy Miriam Rodrigues Richard Roxburgh Aniello Iovino Alessandro Filla Fiore Manganelli Lucio Santoro

Muscle Nerve 2019 Sep 5;60(3):271-278. Epub 2019 Jul 5.

Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II, Naples, Italy.

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http://dx.doi.org/10.1002/mus.26613DOI Listing
September 2019

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Authors:
Libby Wood Guillaume Bassez Corinne Bleyenheuft Craig Campbell Louise Cossette Aura Cecilia Jimenez-Moreno Yi Dai Hugh Dawkins Jordi Díaz-Manera Celine Dogan Rasha El Sherif Barbara Fossati Caroline Graham James Hilbert Kristinia Kastreva En Kimura Lawrence Korngut Anna Kostera-Pruszczyk Christopher Lindberg Bjorn Lindvall Elizabeth Luebbe Anna Lusakowska Radim Mazanec Giovani Meola Liannna Orlando Masanori P Takahashi Stojan Peric Jack Puymirat Vidosava Rakocevic-Stojanovic Miriam Rodrigues Richard Roxburgh Benedikt Schoser Sonia Segovia Andriy Shatillo Simone Thiele Ivailo Tournev Baziel van Engelen Stanislav Vohanka Hanns Lochmüller

Orphanet J Rare Dis 2019 Aug 15;14(1):199. Epub 2019 Aug 15.

Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1186/s13023-019-1157-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6696685PMC
August 2019

Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.

Authors:
Remai Parker Anja H Schiemann Elaine Langton Terasa Bulger Neil Pollock Andrew Bjorksten Robyn Gillies David Hutchinson Richard Roxburgh Kathryn M Stowell

J Neuromuscul Dis 2017;4(2):147-158

Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand.

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http://dx.doi.org/10.3233/JND-170210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467713PMC
July 2019

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Authors:
Zaïda Koeks Catherine L Bladen David Salgado Erik van Zwet Oksana Pogoryelova Grace McMacken Soledad Monges Maria E Foncuberta Kyriaki Kekou Konstantina Kosma Hugh Dawkins Leanne Lamont Matthew I Bellgard Anna J Roy Teodora Chamova Velina Guergueltcheva Sophelia Chan Lawrence Korngut Craig Campbell Yi Dai Jen Wang Nina Barišić Petr Brabec Jaana Lähdetie Maggie C Walter Olivia Schreiber-Katz Veronika Karcagi Marta Garami Agnes Herczegfalvi Venkatarman Viswanathan Farhad Bayat Filippo Buccella Alessandra Ferlini En Kimura Janneke C van den Bergen Miriam Rodrigues Richard Roxburgh Anna Lusakowska Anna Kostera-Pruszczyk Rosário Santos Elena Neagu Svetlana Artemieva Vedrana Milic Rasic Dina Vojinovic Manuel Posada Clemens Bloetzer Andrea Klein Jordi Díaz-Manera Eduard Gallardo A Ayşe Karaduman Tunca Oznur Haluk Topaloğlu Rasha El Sherif Angela Stringer Andriy V Shatillo Ann S Martin Holly L Peay Jan Kirschner Kevin M Flanigan Volker Straub Kate Bushby Christophe Béroud Jan J Verschuuren Hanns Lochmüller

J Neuromuscul Dis 2017;4(4):293-306

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.3233/JND-170280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701764PMC
July 2019

Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study.

Authors:
Alice Theadom Richard Roxburgh Erin MacAulay Gina O'Grady Joshua Burns Priya Parmar Kelly Jones Miriam Rodrigues

BMJ Open 2019 Jun 14;9(6):e029240. Epub 2019 Jun 14.

Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1136/bmjopen-2019-029240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585838PMC
June 2019

Establishment and 12-month progress of the New Zealand Motor Neurone Disease Registry.

Authors:
Kerry L Walker Miriam J Rodrigues Beth Watson Claire Reilly Emma L Scotter Heather Brunton Janet Turnbull Richard H Roxburgh

J Clin Neurosci 2019 Feb 22;60:7-11. Epub 2018 Nov 22.

Department of Neurology, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand; Centre for Brain Research, Neurogenetics Research Clinic, Faculty of Medical and Health Sciences, University of Auckland, Private Bag 92019, Auckland 1023, New Zealand.

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https://linkinghub.elsevier.com/retrieve/pii/S09675868183174
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http://dx.doi.org/10.1016/j.jocn.2018.11.034DOI Listing
February 2019

A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders.

Authors:
Alice Theadom Miriam Rodrigues Gemma Poke Gina O'Grady Donald Love Graeme Hammond-Tooke Priya Parmar Ronelle Baker Valery Feigin Kelly Jones Braden Te Ao Anna Ranta Richard Roxburgh

Neuroepidemiology 2019 18;52(3-4):128-135. Epub 2019 Jan 18.

Department of Neurology, Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1159/000494115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518995PMC
January 2019

Impacts for Children Living with Genetic Muscle Disorders and their Parents - Findings from a Population-Based Study.

Authors:
Kelly M Jones Gina O'Grady Miriam J Rodrigues Anna Ranta Richard H Roxburgh Donald R Love Alice Theadom

J Neuromuscul Dis 2018;5(3):341-352

National Institute for Stroke and Applied Neurosciences, School of Public Health and Psychosocial Studies, Faculty of Health and Environmental Studies, Auckland University of Technology, Auckland, New Zealand.

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http://dx.doi.org/10.3233/JND-170287DOI Listing
November 2018

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Authors:
Libby Wood Guillaume Bassez Corinne Bleyenheuft Craig Campbell Louise Cossette Aura Cecilia Jimenez-Moreno Yi Dai Hugh Dawkins Jorge Alberto Diaz Manera Celine Dogan Rasha El Sherif Barbara Fossati Caroline Graham James Hilbert Kristinia Kastreva En Kimura Lawrence Korngut Anna Kostera-Pruszczyk Christopher Lindberg Bjorn Lindvall Elizabeth Luebbe Anna Lusakowska Radim Mazanec Giovani Meola Liannna Orlando Masanori P Takahashi Stojan Peric Jack Puymirat Vidosava Rakocevic-Stojanovic Miriam Rodrigues Richard Roxburgh Benedikt Schoser Sonia Segovia Andriy Shatillo Simone Thiele Ivailo Tournev Baziel van Engelen Stanislav Vohanka Hanns Lochmüller

Orphanet J Rare Dis 2018 09 5;13(1):155. Epub 2018 Sep 5.

Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1186/s13023-018-0889-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126043PMC
September 2018

Peripheral nerve ultrasound in Friedreich ataxia.

Authors:
Eoin Mulroy Luciana Pelosi Ruth Leadbetter Purwa Joshi Miriam Rodrigues Stuart Mossman Dean Kilfoyle Richard Roxburgh

Muscle Nerve 2018 05 27;57(5):852-856. Epub 2017 Nov 27.

Department of Neurology, Auckland District Health Board, Auckland, New Zealand.

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http://dx.doi.org/10.1002/mus.26012DOI Listing
May 2018

The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients.

Authors:
Miriam J Rodrigues Gina L O'Grady Graeme Hammond-Tooke Alexa Kidd Donald O Love Ronelle K Baker Richard H Roxburgh

J Neuromuscul Dis 2017;4(3):183-188

Neurology, Auckland City Hospital, Auckland, New Zealand.

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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/JND-170240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5611797PMC
April 2018

Neuronopathy and neuropathy in autosomal dominant spino-cerebellar ataxia (SCA): A preliminary peripheral nerve ultrasound study.

Authors:
Luciana Pelosi Eoin Mulroy Miriam J Rodrigues Richard H Roxburgh

Clin Neurophysiol 2017 12 12;128(12):2436-2437. Epub 2017 Oct 12.

Auckland District Health Board (ADHB), Auckland, New Zealand; School of Medicine, University of Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.clinph.2017.09.114DOI Listing
December 2017

A 'limb-girdle muscular dystrophy' responsive to asthma therapy.

Authors:
Eoin Mulroy Roula Ghaoui David Hutchinson Miriam Rodrigues Monkol Lek Daniel G MacArthur Sandra T Cooper Nigel F Clarke Richard Roxburgh

Pract Neurol 2017 Aug 22;17(4):327-331. Epub 2017 Apr 22.

Department of Neurology, Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1136/practneurol-2017-001598DOI Listing
August 2017

Peripheral nerve ultrasound in cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS).

Authors:
Luciana Pelosi Ruth Leadbetter Eoin Mulroy Andrew M Chancellor Stuart Mossman Richard Roxburgh

Muscle Nerve 2017 07 28;56(1):160-162. Epub 2016 Nov 28.

Auckland District Health Board, Auckland, New Zealand.

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http://dx.doi.org/10.1002/mus.25476DOI Listing
July 2017

Corneal nerve microstructure in Parkinson's disease.

Authors:
Stuti L Misra Hannah M Kersten Richard H Roxburgh Helen V Danesh-Meyer Charles N J McGhee

J Clin Neurosci 2017 May 3;39:53-58. Epub 2017 Mar 3.

Department of Ophthalmology, Faculty of Medical and Health Sciences, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2017.02.033DOI Listing
May 2017

Ophthalmic findings in myotonic dystrophy type 2: a case series.

Authors:
Hannah M Kersten Helen V Danesh-Meyer Richard H Roxburgh

J Neurol 2016 Dec 2;263(12):2552-2554. Epub 2016 Nov 2.

Department of Neurology, Auckland City Hospital, Private Bag 92024, 2 Park Road, Auckland, 1023, New Zealand.

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http://dx.doi.org/10.1007/s00415-016-8325-7DOI Listing
December 2016

Optical coherence tomography findings in a patient with type 1 sialidosis.

Authors:
Hannah M Kersten Richard H Roxburgh Helen V Danesh-Meyer David O Hutchinson

J Clin Neurosci 2016 Sep 1;31:199-201. Epub 2016 Apr 1.

Department of Neurology, Auckland City Hospital, 2 Park Road, Auckland 1023, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2016.02.015DOI Listing
September 2016

Knowledge of Sub-Types Important to Understanding of the Prevalence of Myotonic Dystrophy.

Authors:
Alice Theadom Miriam Rodrigues Richard Roxburgh

Neuroepidemiology 2016 15;46(3):228. Epub 2016 Mar 15.

National Institute for Stroke and Applied Neuroscience, Auckland University of Technology, Auckland, New Zealand.

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http://dx.doi.org/10.1159/000444469DOI Listing
August 2016

Globus pallidus degeneration and clinicopathological features of Huntington disease.

Authors:
Malvindar K Singh-Bains Lynette J Tippett Virginia M Hogg Beth J Synek Richard H Roxburgh Henry J Waldvogel Richard L M Faull

Ann Neurol 2016 08 24;80(2):185-201. Epub 2016 Jun 24.

Centre for Brain Research, University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1002/ana.24694DOI Listing
August 2016

Health Care Delivery Practices in Huntington's Disease Specialty Clinics: An International Survey.

Authors:
Jan C Frich Daniela Rae Richard Roxburgh Zofia H Miedzybrodzka Mary Edmondson Erika Bjorklund Pope LaVonne Goodman Monica S Haddad Joe Giuliano Eugene C Nelson Mark Guttman Martha Nance

J Huntingtons Dis 2016 06;5(2):207-13

Struthers Parkinson's Center, Golden Valley, MN, USA.

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http://dx.doi.org/10.3233/JHD-160192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4942722PMC
June 2016

The Appointment of a Huntington's Disease Nurse Specialist has Reduced Admission Rate and Improved Admission Quality.

Authors:
David Bourke Gregory Finucane Jo Dysart Richard Roxburgh

J Huntingtons Dis 2012 ;1(1):27-30

Neurology Department, Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.3233/JHD-2012-120003DOI Listing
May 2016

An investigation of the relationship between latitude and multiple sclerosis severity in New Zealand.

Authors:
Sridhar Alla John F Pearson Bruce V Taylor Richard Roxburgh Glynnis Clarke David H Miller Ann Richardson David A Abernethy Ernie Willoughby Clive E Sabel Deborah F Mason

Mult Scler 2016 Apr 2;22(5):705-7. Epub 2015 Oct 2.

New Zealand Brain Research Institute, Christchurch, New Zealand University of Otago, Christchurch, New Zealand Christchurch Public Hospital, Christchurch, New Zealand.

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http://dx.doi.org/10.1177/1352458515605909DOI Listing
April 2016

Looking out for the blind spot.

Authors:
Viswas Dayal Vivien Teh David McAuley Stephen Reddel Richard Roxburgh

Pract Neurol 2015 Dec 18;15(6):466-70. Epub 2015 Aug 18.

Department of Neurology, Auckland City Hospital, Auckland, New Zealand.

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http://pn.bmj.com/lookup/doi/10.1136/practneurol-2015-001176
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http://dx.doi.org/10.1136/practneurol-2015-001176DOI Listing
December 2015

Optical coherence tomography findings in Huntington's disease: a potential biomarker of disease progression.

Authors:
Hannah M Kersten Helen V Danesh-Meyer Dean H Kilfoyle Richard H Roxburgh

J Neurol 2015 Nov 2;262(11):2457-65. Epub 2015 Aug 2.

Department of Neurology, Auckland City Hospital, 2 Park Road, Auckland, 1023, New Zealand.

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http://dx.doi.org/10.1007/s00415-015-7869-2DOI Listing
November 2015

Prevalence of muscular dystrophies: a systematic literature review.

Authors:
Alice Theadom Miriam Rodrigues Richard Roxburgh Shiavnthi Balalla Chris Higgins Rohit Bhattacharjee Kelly Jones Rita Krishnamurthi Valery Feigin

Neuroepidemiology 2014 16;43(3-4):259-68. Epub 2014 Dec 16.

National Institute for Stroke and Applied Neuroscience, Auckland University of Technology, Auckland, New Zealand.

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http://dx.doi.org/10.1159/000369343DOI Listing
September 2015

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Authors:
Catherine L Bladen David Salgado Soledad Monges Maria E Foncuberta Kyriaki Kekou Konstantina Kosma Hugh Dawkins Leanne Lamont Anna J Roy Teodora Chamova Velina Guergueltcheva Sophelia Chan Lawrence Korngut Craig Campbell Yi Dai Jen Wang Nina Barišić Petr Brabec Jaana Lahdetie Maggie C Walter Olivia Schreiber-Katz Veronika Karcagi Marta Garami Venkatarman Viswanathan Farhad Bayat Filippo Buccella En Kimura Zaïda Koeks Janneke C van den Bergen Miriam Rodrigues Richard Roxburgh Anna Lusakowska Anna Kostera-Pruszczyk Janusz Zimowski Rosário Santos Elena Neagu Svetlana Artemieva Vedrana Milic Rasic Dina Vojinovic Manuel Posada Clemens Bloetzer Pierre-Yves Jeannet Franziska Joncourt Jordi Díaz-Manera Eduard Gallardo A Ayşe Karaduman Haluk Topaloğlu Rasha El Sherif Angela Stringer Andriy V Shatillo Ann S Martin Holly L Peay Matthew I Bellgard Jan Kirschner Kevin M Flanigan Volker Straub Kate Bushby Jan Verschuuren Annemieke Aartsma-Rus Christophe Béroud Hanns Lochmüller

Hum Mutat 2015 Apr 17;36(4):395-402. Epub 2015 Mar 17.

The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1002/humu.22758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405042PMC
April 2015

Congestive myeloradiculopathy in a patient with Cowden syndrome.

Authors:
Teddy Y Wu Ernest Willoughby David O Hutchinson Stefan Brew Ben McGuinness Rebecca Lopes Donald R Love Richard H Roxburgh

J Clin Neurosci 2015 Feb 7;22(2):431-3. Epub 2014 Oct 7.

Department of Neurology, Auckland City Hospital, Grafton Road, Auckland, New Zealand; Centre for Brain Research, University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.jocn.2014.07.023DOI Listing
February 2015

The New Zealand Neuromuscular Disease Registry: rate of diagnoses confirmed by molecular testing.

Authors:
Miriam Rodrigues Alexa Kidd Donald R Love Richard Roxburgh

J Clin Neurosci 2015 Feb 19;22(2):434-6. Epub 2014 Oct 19.

Neurology Department, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand; Centre for Brain Research, University of Auckland, Auckland, New Zealand.

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https://linkinghub.elsevier.com/retrieve/pii/S09675868140050
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http://dx.doi.org/10.1016/j.jocn.2014.06.096DOI Listing
February 2015

Widespread heterogeneous neuronal loss across the cerebral cortex in Huntington's disease.

Authors:
Alissa L Nana Eric H Kim Doris C V Thu Dorothy E Oorschot Lynette J Tippett Virginia M Hogg Beth J Synek Richard Roxburgh Henry J Waldvogel Richard L M Faull

J Huntingtons Dis 2014 ;3(1):45-64

Department of Anatomy with Radiology, University of Auckland, Auckland, New Zealand Centre for Brain Research, University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.3233/JHD-140092DOI Listing
October 2014

Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.

Authors:
Teddy Y Wu Jennifer M Taylor Dean H Kilfoyle Andrew D Smith Ben J McGuinness Mark P Simpson Elizabeth B Walker Peter S Bergin James C Cleland David O Hutchinson Neil E Anderson Barry J Snow Tim J Anderson Laura A F Paermentier Nick J Cutfield Andrew M Chancellor Stuart S Mossman Richard H Roxburgh

Brain 2014 Oct 28;137(Pt 10):2649-56. Epub 2014 Jul 28.

1 Department of Neurology, Auckland City Hospital, 2 Park Road, Auckland 1023, New Zealand 3 Centre for Brain Research, University of Auckland, 85 Park Road, Auckland 1142, New Zealand

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http://dx.doi.org/10.1093/brain/awu196DOI Listing
October 2014

Mystery Case: Cutaneous lesions in KRIT1-associated cerebral cavernous malformations.

Authors:
Wallace J Brownlee Richard Roxburgh

Neurology 2014 Sep;83(14):e133-4

From the Department of Neurology, Auckland District Health Board, New Zealand.

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http://dx.doi.org/10.1212/WNL.0000000000000849DOI Listing
September 2014

Ophthalmic manifestations of inherited neurodegenerative disorders.

Authors:
Hannah M Kersten Richard H Roxburgh Helen V Danesh-Meyer

Nat Rev Neurol 2014 Jun 20;10(6):349-62. Epub 2014 May 20.

Department of Ophthalmology, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand.

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http://dx.doi.org/10.1038/nrneurol.2014.79DOI Listing
June 2014

Hypoventilation in glycine-receptor antibody related progressive encephalomyelitis, rigidity and myoclonus.

Authors:
David Bourke Richard Roxburgh Angela Vincent James Cleland Oliver Jeffery Niels Dugan David Abernethy Allison King Neil Anderson

J Clin Neurosci 2014 May 10;21(5):876-8. Epub 2013 Sep 10.

Neurology Department, Auckland Hospital, Auckland, New Zealand.

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https://linkinghub.elsevier.com/retrieve/pii/S09675868130048
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http://dx.doi.org/10.1016/j.jocn.2013.07.014DOI Listing
May 2014

Cortical interneuron loss and symptom heterogeneity in Huntington disease.

Authors:
Eric H Kim Doris C V Thu Lynette J Tippett Dorothy E Oorschot Virginia M Hogg Richard Roxburgh Beth J Synek Henry J Waldvogel Richard L M Faull

Ann Neurol 2014 May 13;75(5):717-27. Epub 2014 May 13.

Department of Anatomy with Radiology, University of Auckland, Auckland, New Zealand; Centre for Brain Research, University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1002/ana.24162DOI Listing
May 2014

The effect of hydrotherapy treatment on gait characteristics of hereditary spastic paraparesis patients.

Authors:
Yanxin Zhang Richard Roxburgh Liang Huang John Parsons T Claire Davies

Gait Posture 2014 Apr 29;39(4):1074-9. Epub 2014 Jan 29.

Department of Mechanical Engineering, University of Auckland, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.gaitpost.2014.01.010DOI Listing
April 2014

Epiretinal membrane: a treatable cause of visual disability in myotonic dystrophy type 1.

Authors:
Hannah M Kersten Richard H Roxburgh Nicholas Child Philip J Polkinghorne Chris Frampton Helen V Danesh-Meyer

J Neurol 2014 Jan 17;261(1):37-44. Epub 2013 Oct 17.

Department of Ophthalmology, University of Auckland, Private Bag 92019, Auckland, 1142, New Zealand,

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http://dx.doi.org/10.1007/s00415-013-7141-6DOI Listing
January 2014

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

Authors:
Catherine L Bladen Rachel Thompson Jacqueline M Jackson Connie Garland Claire Wegel Anna Ambrosini Paolo Pisano Maggie C Walter Olivia Schreiber Anna Lusakowska Maria Jedrzejowska Anna Kostera-Pruszczyk Ludo van der Pol Renske I Wadman Ole Gredal Ayse Karaduman Haluk Topaloglu Oznur Yilmaz Vitaliy Matyushenko Vedrana Milic Rasic Ana Kosac Veronika Karcagi Marta Garami Agnes Herczegfalvi Soledad Monges Angelica Moresco Lilien Chertkoff Teodora Chamova Velina Guergueltcheva Niculina Butoianu Dana Craiu Lawrence Korngut Craig Campbell Jana Haberlova Jana Strenkova Moises Alejandro Alatorre Jimenez Genaro Gabriel Ortiz Gracia Viviana Gonzalez Enriquez Miriam Rodrigues Richard Roxburgh Hugh Dawkins Leanne Youngs Jaana Lahdetie Natalija Angelkova Pascal Saugier-Veber Jean-Marie Cuisset Clemens Bloetzer Pierre-Yves Jeannet Andrea Klein Andres Nascimento Eduardo Tizzano David Salgado Eugenio Mercuri Thomas Sejersen Jan Kirschner Karen Rafferty Volker Straub Kate Bushby Jan Verschuuren Christophe Beroud Hanns Lochmüller

J Neurol 2014 Jan 27;261(1):152-63. Epub 2013 Oct 27.

MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,

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http://link.springer.com/content/pdf/10.1007%2Fs00415-013-71
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http://www.rare-diseases.eu/wp-content/uploads/2013/08/41_t2
Web Search
http://link.springer.com/10.1007/s00415-013-7154-1
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http://dx.doi.org/10.1007/s00415-013-7154-1DOI Listing
January 2014

A pain in the neck.

Authors:
Wallace J Brownlee Jasper Morrow Ben McGuiness Jennifer A Pereira Richard Roxburgh

Pract Neurol 2013 Dec 8;13(6):388-92. Epub 2013 Jun 8.

Department of Neurology, Auckland District Health Board, , Auckland, New Zealand.

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http://dx.doi.org/10.1136/practneurol-2013-000555DOI Listing
December 2013

Thrombo-embolic cerebral infarction secondary to giant Lambl's excrescence.

Authors:
Teddy Y Wu Ivor L Gerber Richard H Roxburgh

J Clin Neurosci 2013 Nov 11;20(11):1632-4. Epub 2013 May 11.

Department of Neurology, Auckland City Hospital, Private Bag 92024, Auckland 1124, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2012.08.015DOI Listing
November 2013

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.

Authors:
Catherine L Bladen Karen Rafferty Volker Straub Soledad Monges Angélica Moresco Hugh Dawkins Anna Roy Teodora Chamova Velina Guergueltcheva Lawrence Korngut Craig Campbell Yi Dai Nina Barišić Tea Kos Petr Brabec Jes Rahbek Jaana Lahdetie Sylvie Tuffery-Giraud Mireille Claustres France Leturcq Rabah Ben Yaou Maggie C Walter Olivia Schreiber Veronika Karcagi Agnes Herczegfalvi Venkatarman Viswanathan Farhad Bayat Isis de la Caridad Guerrero Sarmiento Anna Ambrosini Francesca Ceradini En Kimura Janneke C van den Bergen Miriam Rodrigues Richard Roxburgh Anna Lusakowska Jorge Oliveira Rosário Santos Elena Neagu Niculina Butoianu Svetlana Artemieva Vedrana Milic Rasic Manuel Posada Francesc Palau Björn Lindvall Clemens Bloetzer Ayşe Karaduman Haluk Topaloğlu Serap Inal Piraye Oflazer Angela Stringer Andriy V Shatillo Ann S Martin Holly Peay Kevin M Flanigan David Salgado Brigitta von Rekowski Stephen Lynn Emma Heslop Sabina Gainotti Domenica Taruscio Jan Kirschner Jan Verschuuren Kate Bushby Christophe Béroud Hanns Lochmüller

Hum Mutat 2013 Nov 26;34(11):1449-57. Epub 2013 Aug 26.

MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1002/humu.22390DOI Listing
November 2013

Andersen-Tawil syndrome presenting as a fixed myopathy.

Authors:
Nicholas D Child James C Cleland Richard Roxburgh

Muscle Nerve 2013 Oct 30;48(4):623. Epub 2013 Aug 30.

Neurology Department, Auckland City Hospital Park Road, Grafton Auckland, New Zealand.

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http://dx.doi.org/10.1002/mus.23872DOI Listing
October 2013

Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia.

Authors:
Anton Reiner Evan Shelby Hongbing Wang Zena Demarch Yunping Deng Natalie Hart Guley Virginia Hogg Richard Roxburgh Lynette J Tippett Henry J Waldvogel Richard L M Faull

Mov Disord 2013 Oct 3;28(12):1691-9. Epub 2013 Sep 3.

Department of Anatomy and Neurobiology, The University of Tennessee Health Science Center, Memphis, Tennessee, USA.

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http://dx.doi.org/10.1002/mds.25624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812318PMC
October 2013

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.

Authors:
Richard H Roxburgh Renate Marquis-Nicholson Fern Ashton Alice M George Rod A Lea David Eccles Stuart Mossman Thomas Bird Koen L van Gassen Erik-Jan Kamsteeg Donald R Love

J Neurol 2013 May 27;260(5):1286-94. Epub 2012 Dec 27.

Neurology Department, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand.

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http://dx.doi.org/10.1007/s00415-012-6792-zDOI Listing
May 2013

The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease.

Authors:
Richard H Roxburgh Corrie O Smith Jung G Lim David F Bachman Erica Byrd Thomas D Bird

J Neurol Sci 2013 Jan 17;324(1-2):176-8. Epub 2012 Oct 17.

Neurology Department, Auckland City Hospital, Private Bag 92024, Auckland, New Zealand.

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X120053
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http://dx.doi.org/10.1016/j.jns.2012.09.030DOI Listing
January 2013

The New Zealand Neuromuscular Disease Registry.

Authors:
Miriam Rodrigues Graeme Hammond-Tooke Alexa Kidd Donald Love Rakesh Patel Hugh Dawkins Matthew Bellgard Richard Roxburgh

J Clin Neurosci 2012 Dec 19;19(12):1749-50. Epub 2012 Sep 19.

Neurology Department, Auckland City Hospital, Auckland Mail Centre, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.jocn.2012.04.008DOI Listing
December 2012

Neurological picture. Distinctive MRI abnormalities in a man with dentatorubral-pallidoluysian atrophy.

Authors:
Mark Simpson Andrew Smith Hugh Kent Richard Roxburgh

J Neurol Neurosurg Psychiatry 2012 May 22;83(5):529-30. Epub 2012 Feb 22.

Department of Neurology, Auckland City Hospital, Auckland, New Zealand.

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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2011-301612
Publisher Site
http://dx.doi.org/10.1136/jnnp-2011-301612DOI Listing
May 2012

A retrospective study of the impact of lifestyle on age at onset of Huntington disease.

Authors:
M Kaye Trembath Zoë A Horton Lynette Tippett Virginia Hogg Veronica R Collins Andrew Churchyard Dennis Velakoulis Richard Roxburgh Martin B Delatycki

Mov Disord 2010 Jul;25(10):1444-50

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/mds.23108DOI Listing
July 2010

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.

Authors:
Jeanne C Latourelle Mei Sun Mark F Lew Oksana Suchowersky Christine Klein Lawrence I Golbe Margery H Mark John H Growdon G Frederick Wooten Ray L Watts Mark Guttman Brad A Racette Joel S Perlmutter Anwar Ahmed Holly A Shill Carlos Singer Stefano Goldwurm Gianni Pezzoli Michela Zini Marie H Saint-Hilaire Audrey E Hendricks Sally Williamson Michael W Nagle Jemma B Wilk Tiffany Massood Karen W Huskey Jason M Laramie Anita L DeStefano Kenneth B Baker Ilia Itin Irene Litvan Garth Nicholson Alastair Corbett Martha Nance Edward Drasby Stuart Isaacson David J Burn Patrick F Chinnery Peter P Pramstaller Jomana Al-hinti Anette T Moller Karen Ostergaard Scott J Sherman Richard Roxburgh Barry Snow John T Slevin Franca Cambi James F Gusella Richard H Myers

BMC Med 2008 Nov 5;6:32. Epub 2008 Nov 5.

Department of Neurology, Boston University School of Medicine, Boston University, Boston, MA, USA.

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http://dx.doi.org/10.1186/1741-7015-6-32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2596771PMC
November 2008

Replication of association between ELAVL4 and Parkinson disease: the GenePD study.

Authors:
Anita L DeStefano Jeanne Latourelle Mark F Lew Oksana Suchowersky Christine Klein Lawrence I Golbe Margery H Mark John H Growdon G Fredrick Wooten Ray Watts Mark Guttman Brad A Racette Joel S Perlmutter Lynn Marlor Holly A Shill Carlos Singer Stefano Goldwurm Gianni Pezzoli Marie H Saint-Hilaire Audrey E Hendricks Adam Gower Sally Williamson Michael W Nagle Jemma B Wilk Tiffany Massood Karen W Huskey Kenneth B Baker Ilia Itin Irene Litvan Garth Nicholson Alastair Corbett Martha Nance Edward Drasby Stuart Isaacson David J Burn Patrick F Chinnery Peter P Pramstaller Jomana Al-Hinti Anette T Moller Karen Ostergaard Scott J Sherman Richard Roxburgh Barry Snow John T Slevin Franca Cambi James F Gusella Richard H Myers

Hum Genet 2008 Aug 29;124(1):95-9. Epub 2008 Jun 29.

Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Crosstown Center, 3rd floor, Boston, MA 02118, USA.

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http://dx.doi.org/10.1007/s00439-008-0526-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2716559PMC
August 2008

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.

Authors:
Christopher F McNicoll Jeanne C Latourelle Marcy E MacDonald Mark F Lew Oksana Suchowersky Christine Klein Lawrence I Golbe Margery H Mark John H Growdon G Frederick Wooten Ray L Watts Mark Guttman Brad A Racette Joel S Perlmutter Anwar Ahmed Holly A Shill Carlos Singer Marie H Saint-Hilaire Tiffany Massood Karen W Huskey Anita L DeStefano Tammy Gillis Jayalakshmi Mysore Stefano Goldwurm Gianni Pezzoli Kenneth B Baker Ilia Itin Irene Litvan Garth Nicholson Alastair Corbett Martha Nance Edward Drasby Stuart Isaacson David J Burn Patrick F Chinnery Peter P Pramstaller Jomana Al-Hinti Anette T Moller Karen Ostergaard Scott J Sherman Richard Roxburgh Barry Snow John T Slevin Franca Cambi James F Gusella Richard H Myers

Mov Disord 2008 Aug;23(11):1596-601

Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts 02118, USA.

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http://dx.doi.org/10.1002/mds.22186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2655323PMC
August 2008

Rhabdomyolysis in a glue sniffer.

Authors:
Gonesh C Karmakar Richard Roxburgh

N Z Med J 2008 Apr 4;121(1271):70-1. Epub 2008 Apr 4.

Neurology, Auckland City Hospital, Park Road, Private Bag 92024, Auckland, New Zealand.

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April 2008

Spontaneous low-pressure headache complicating bag-piping.

Authors:
Alasdair Patrick David McAuley Richard Roxburgh

Headache 2007 Apr;47(4):611-3

Neurology Department, Aukland City Hospital, Park Road, Grafton, Aukland, New Zealand.

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http://dx.doi.org/10.1111/j.1526-4610.2007.00763_1.xDOI Listing
April 2007

No evidence of a significant role for CTLA-4 in multiple sclerosis.

Authors:
Richard H Roxburgh Stephen Sawcer Mel Maranian Shaun Seaman Anke Hensiek Taiwai Yeo Jackie Deans Alastair Compston

J Neuroimmunol 2006 Feb 1;171(1-2):193-7. Epub 2005 Dec 1.

Department of Clinical Neurosciences, Cambridge University, Addenbrooke's Hospital, CB2 2QQ Cambridge, UK.

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http://dx.doi.org/10.1016/j.jneuroim.2005.10.006DOI Listing
February 2006

Refining the analysis of a whole genome linkage disequilibrium association map: the United Kingdom results.

Authors:
Tai Wai Yeo Richard Roxburgh Mel Maranian Sara Singlehurst Julia Gray Anke Hensiek Efrosini Setakis Alastair Compston Stephen Sawcer

J Neuroimmunol 2003 Oct;143(1-2):53-9

University of Cambridge Neurology Unit, Addenbrook's Hospital, Hills Road, Cambridge CB2 2QQ, UK.

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http://dx.doi.org/10.1016/j.jneuroim.2003.08.011DOI Listing
October 2003

A whole genome screen for linkage disequilibrium in multiple sclerosis confirms disease associations with regions previously linked to susceptibility.

Authors:
Stephen Sawcer Mel Maranian Efrosini Setakis Val Curwen Eva Akesson Anke Hensiek Francesca Coraddu Richard Roxburgh David Sawcer Julia Gray Jackie Deans Peter N Goodfellow Neil Walker David Clayton Alastair Compston

Brain 2002 Jun;125(Pt 6):1337-47

University of Cambridge Neurology Unit, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.1093/brain/awf143DOI Listing
June 2002