Centre of Research Excellence in Neuromuscular Disorders

The Centre of Research Excellence in Neuromuscular Disorders is a collaboration of neuromuscular experts. It uses the latest approaches in medicine, science, nursing and allied health to improve diagnosis, facilitate prevention and transform treatment from compassionate management to effective therapy.

Why research neuromuscular disorders?

Neuromuscular disorders can be debilitating and reduce a person’s life span and quality.

While some disorders cause mild muscle weakness, others are severe and make it impossible to walk, or cause vital organs such as the heart and lungs to eventually fail.

Neuromuscular disorders are complex and challenging to diagnose.
There are hundreds of genetic changes that can cause neuromuscular disorders. While we know of many, some of these genetic changes have not yet been isolated. It can also be hard to accurately pinpoint the specific genetic changes that are responsible in each person who has a neuromuscular disorder.

There is currently no cure or way to prevent neuromuscular conditions.

The best treatments available are only able to delay the start of symptoms or reduce their severity.

Neuromuscular disorders represent a significant cost to both affected families and the community.

Neuromuscular disorders are life-long conditions requiring ongoing treatment and expensive support aids like wheelchairs, walkers or mechanical lifts. Some parents of children with a neuromuscular disorder reduce or leave paid employment to be able to care for their child. This can cause financial and emotional strain for families, and also impacts the community through an increased welfare burden and reduced national productivity.

Funding

The Centre of Research Excellence in Neuromuscular Disorders brings together leading researchers across Australia. These experts include:

Lead Investigator

Professor Kathryn North AM
Child Neurologist and Clinical Geneticist
Kathryn is the Director of the Murdoch Childrens Research Institute and the David Danks Professor of Child Health Research at the University of Melbourne.
She is a clinician-scientist with a research focus on the molecular basis of inherited muscle disorders, as well as on the genes that influence normal skeletal muscle function and elite athletic performance. She is also involved in clinical trials of therapies for muscular dystrophy, and the development of interventions for children with learning disabilities.
Kathryn has received a number of awards for her research including the GlaxoSmithKlein Australia Award for Research Excellence (2011), the Ramaciotti Medal for Excellence in Biomedical Research (2012) and a Member of the Order of Australia (AM) for service to medicine in the field of neuromuscular and neurogenetics research (2012).
In 2012, Professor North was appointed Chair of the NHMRC Research Committee and Member of NHMRC Council and in 2014 was appointed Vice Chair of the Global Alliance for Genomics and Health, an international consortium of more than 200 institutions promoting the sharing of genomic and clinical data.

Chief Investigators

Winthrop Research Professor Nigel Laing AO
Molecular Geneticist
Nigel is a senior researcher and leader of the Neurogenetic Diseases Group at the University of Western Australia and Centre for Medical Research at the Harry Perkins Institute of Medical Research.
He has worked in genetic and muscle research for almost 40 years. His research laboratory has identified more than 20 genes involved in human diseases, including genetic mutations associated with congenital myopathies and Laing distal myopathy. Nigel’s current research focuses on identifying the genes involved in neurogenetic disorders, particularly recessive genetic conditions affecting newborns, like nemaline myopathy.
Nigel is the Scientific Director of the Western Australian Department of Health Neurogenetics Unit, which handles referrals for the diagnosis of neurogenetic disorders across Australasia. In the last two years, the Unit has pioneered the use of next generation sequencing for neurogenetic diseases – a diagnostic technique that will enable more accurate and efficient identification of these diseases.
Nigel was the recipient of the Sutherland Lecturer award of the Human Genetics Society of Australasia in 2010, and the Donald Wassenberg Memorial Lecturer on Genetic Disease Research in 2013 (San Diego State University). He has also received several Excellence in Teaching Awards (2010, 2013 and 2014), as well as the Vice Chancellor's Senior Researcher award in 2014 (University of Western Australia). 

Associate Professor Andrew Kornberg
Paediatric neurologist
Andrew is a senior doctor and Head of the Department of Neurology at The Royal Children’s Hospital, Melbourne. He is also a senior researcher and leader of the Neuroscience Research Group at the Murdoch Childrens Research Institute.
He has had extensive experience in researching and treating immune-mediated neurologic syndromes, including Guillain-Barré syndrome, Miller Fisher syndrome, multifocal motor neuropathy, chronic inflammatory demyelinating polyneuropathy (CIDP), childhood multiple sclerosis and acute disseminated encephalomyelitis. His current research focuses on childhood multiple sclerosis as well as developing treatments for muscular dystrophy.
Andrew is a member of the steering committee of the IPMSSG (International Pediatric Multiple Sclerosis Study Group).

Professor Joshua Burns
Podiatrist
Josh is Professor of Paediatric Neuromuscular Rehabilitation at the University of Sydney. He is also a senior allied health practitioner (Podiatrist) at The Children’s Hospital at Westmead in Sydney, and a senior researcher at the Murdoch Childrens Research Institute in Melbourne.
His research focuses on the effects that nerve, muscle and brain disorders have on the lower limbs. He is particularly interested in clinical trials that integrate biomechanics, neurogenetics and rehabilitation in an attempt to more effectively treat children and adults with neuromuscular disorders.
Josh also heads up the Paediatric Gait Analysis Service of NSW and leads the Sydney Arthritis and Musculoskeletal research group at The University of Sydney. Josh has received a number of awards including a Young Tall Poppy Science Award (2007), a Fulbright Scholarship to work in Michigan (2009) and two NHMRC Research Fellowships (Australian Clinical Research Postdoctoral Fellowship 2006; Career Development Fellowship 2011).

Associate Professor Monique Ryan
Paediatric neurologist
Monique is a senior doctor and head of the Neuromuscular Clinic at The Royal Children’s Hospital, Melbourne. She is also a senior researcher at the Murdoch Childrens Research Institute.
She is committed to improving the diagnosis and management of children affected by muscular dystrophies, myopathies and neuropathies. Her research follows the development of childhood neuropathies over time as well as trialling new therapies for muscle diseases and neuropathies.
Monique is a member of several international neuromuscular research groups, a board member of the Cooperative International Neuromuscular Research Group and a member of the TREAT-NMD therapeutic advisory committee. She has received awards for her clinical research from the Child Neurology Society (USA) (2000), American Academy of Neurologists (2002), and the 11th International Congress on Neuromuscular Disorders (2006).

Associate Professor Nigel Clarke
Clinical geneticist
Nigel is a senior doctor at the Children’s Hospital at Westmead Sydney, where he also leads the hospital’s Institute for Neuroscience and Muscle Research. He also holds an academic position at the Sydney Medical School.
He has a wealth of experience in both the clinical treatment of, and laboratory research into, neuromuscular disorders and muscle disease. His research focuses on improving the diagnosis of inherited and congenital myopathies through better understanding their genetic origins.
Nigel was awarded an NHMRC Career Development Fellowship in 2012.

Professor Alastair Corbett
Neurologist
Alastair is a senior doctor and head of the Neurology Department at Concord Hospital in Sydney. He is also the Director of Stroke Services in the Sydney Local Health District, and Associate Professor at the University of Sydney.
His research focuses on the effects of the drug triheptanoin in people with Pompe disease and inclusion body myositis. He is also interested in the bone health of people with facioscapulohumeral muscular dystrophy.
Alastair is the former director of Muscular Dystrophy New South Wales and is the current chairman of the NSW Neurology State Education and Training Committee.

Professor Kathryn Refshauge
Physiotherapist
Kathryn is a senior researcher and the Dean of the Faculty of Health Sciences and Professor of Physiotherapy at the University of Sydney.
She is internationally recognised for her research in musculoskeletal injury, in particular sports injuries, back pain and neck pain.
Kathryn has received several awards for her work, including from the Australian Physiotherapy Association and the Charcot-Marie-Tooth Association. She has contributed significantly to numerous government and professional organisations, including the Board of Sports Medicine Australia, the NSW Population and Health Services Research Ethics committee, the Australian Physiotherapy Council, and the University of Sydney Human Research Ethics Committee.

Associate Professor Michael Buckley
Molecular geneticist and genetic pathologist
Michael is a doctor and clinical scientist who specialises in diagnosing genetic conditions. He is the clinical director of the Genetics laboratory of South Eastern Area Laboratory Services, Sydney – a large diagnostic genetics laboratory service with diverse interests including cancer genetics, the genetics of intellectual disability, craniofacial and neuromuscular disorders.
He has skills in diagnostic testing of people with mendelian disorders, including novel test development, implementation, validation and accreditation, as well as the clinical interpretation of next generation DNA sequencing data.

Professor Catriona McLean
Neuropathologist
Catriona is a doctor and senior scientist with a special interest in diseases of the nervous system. She is the Director of Anatomical Pathology at Alfred Health, where she also leads a NATA-accredited molecular pathology laboratory. She is a Professor in the Central Clinical School (Alfred Health) and Professor and head of Howard Florey Neurosciences Victorian Brain Bank and Director and senior neuropathologist for the Victorian Neuromuscular Service, with honorary neuropathology appointments at The Royal Children’s Hospital, Melbourne and Monash Medical Centre.
Her research focuses on understanding the mechanism of cell destruction in diseases of nerve and muscle, and in the pathways involved in development of tumour cells in breast and liver cancer.
Catriona is a scientific advisory board member of Neuroscience Victoria, the Multiple Sclerosis Society, the Victorian and the Australian brain bank networks, the Cancer Council of Victoria, and the Motor Neuron Disease Brain Bank.

Winthrop Research Professor Nigel Laing
Role: 
Chief Investigator
University of Western Australia
Associate Professor Andrew Kornberg
Role: 
Chief Investigator
Murdoch Childrens Research Institute
Professor Joshua Burns
Role: 
Chief Investigator
University of Sydney
Associate Professor Nigel Clarke
Role: 
Chief Investigator
Children’s Hospital at Westmead, Sydney
Professor Alastair Corbett
Role: 
Chief Investigator
Concord Hospital, Sydney
Professor Kathryn Refshauge
Role: 
Chief Investigator
University of Sydney
Associate Professor Michael Buckley
Role: 
Chief Investigator
South Eastern Area Laboratory Services
Professor Catriona McLean
Role: 
Chief Investigator
Alfred Health
Professor Steve Wilton
Role: 
Associate Investigator
Asssociate Professor Phillipa Lamont
Role: 
Associate Investigator
Asssociate Professor Kristi Jones
Role: 
Associate Investigator
Professor Nadia Rosenthal
Role: 
Associate Investigator
Professor Peter Currie
Role: 
Associate Investigator
Professor Garth Nicholson
Role: 
Associate Investigator
David Jack
Role: 
Associate Investigator
Professor Hugh Dawkins
Role: 
Associate Investigator
Asssociate Professor Kristen Nowack
Role: 
ARC future fellow
Assistant Professor Gina Ravenscroft
Role: 
NHMRC early career fellow
Assistant Professor Rachel Duff
Role: 
Post-doctoral research fellow
Elyshia McNamara
Role: 
Graduate Research Assistant
Royston Ong
Role: 
Research Assistant
Doctor Macarena Cabrera
Role: 
PhD Student
Jordan Boutilier
Role: 
PhD Student
Adriana Messineo
Role: 
PhD Student
Klair Bayley
Role: 
Masters Student
Dr Fleur Garton
Role: 
Post-doctoral Scientist
Dr Eppie Yiu
Role: 
Post-doctoral Paediatric Neurologist
Dr Zoe Davidson
Role: 
Post-doctoral Dietitian
Joy Goubran
Role: 
Masters Student
Dr Kate Carroll
Role: 
Post-doctoral Research Fellow
Rachel Kennedy
Role: 
Masters Student
Katy de Valle
Role: 
Research Physiotherapist
Dr Leigh Waddell
Role: 
Post-doctoral Scientist
Dr Emily Oates
Role: 
Post-doctoral Scientist
Dr Sarah Sandaradura
Role: 
PhD student
Dr Manoj Menezes
Role: 
PhD student
Kayla Cornett
Role: 
PhD student
Dr Roula Ghaoui
Role: 
PhD student
Melissa Mandarakas
Role: 
PhD student
Marnee McKay
Role: 
PhD student
Jennifer Baldwin
Role: 
PhD student
Michaela Kreissl
Role: 
PhD student
Dr Amy Sman
Role: 
Post-doctoral Physiotherapist
Dr Paula Bray
Role: 
Post-doctoral Occupational Therapist

The Australasian Neuromuscular Network

The Australasian Neuromuscular Network (ANN) was founded in 2010 by members of the Centre of Research Excellence in Neuromuscular Disorders in partnership with other neuromuscular specialists, allied health professionals, scientists and patient advocates across Australia and New Zealand.

The ANN exists to enable those working in the field to share knowledge and work together to more effectively research, diagnose, treat and advocate for those with neuromuscular disorders.

Australasian Neuromuscular Network website

Other collaborating bodies and groups

CARE-NMD survey
This survey aims to identify opportunities to improve the quality of care in Australia, as well as access to care for those with Duchenne muscular dystrophy. The survey is gathering information on access to treatment centres and availability of supportive equipment, as well as the functional ability, disease stage, educational attainment and participation in society among those with Duchenne muscular dystrophy.

The 1,000 Norms Project
This study examines the physical capabilities of 1,000 healthy people aged between 3 and 100 years to identify what the range of ‘normal’ variation is in a healthy population and the influence genes have on physical capabilities.

Long-term study of the natural history of Duchenne muscular dystrophy (Cooperative International Neuromuscular Research Group)

This project is an eight-year ‘natural history’ study of children with Duchenne muscular dystrophy, aiming to track changes over time in their physical abilities, medical problems and experience of health care services.

Study of Ataluren in patients with a nonsense mutation Dystrophinopathy (PTC Therapeutics)

Dystrophinopathies are a group of diseases that include Duchenne muscular dystrophy. A type of gene change called a ‘nonsense mutation’, is responsible for about 10-15% of dystrophinopathies, where it halts the production of the dystrophin protein, which is vital for proper muscle structure and function. This trial is assessing the safety of the drug ‘Ataluren’ and its potential effectiveness in correcting nonsense mutations to enable the body to produce this important dystrophin protein.

Study of early signs of breathing problems during sleep in Duchenne muscular dystrophy

This study is examining the reliability of the tests used to predict when boys with Duchenne muscular dystrophy will begin to experience breathing problems during sleep, in order to detect and treat this problem as early as possible.

Nutriceuticals in Duchenne muscular dystrophy

This study is looking at whether nutritional supplements can help to maintain or improve the functional abilities of boys with Duchenne muscular dystrophy. 

The effects of calf massage in boys with Duchenne muscular dystrophy
Boys with Duchenne muscular dystrophy have progressive muscle weakness that is associated with muscle stiffness, muscle shortening and sometimes pain. Many families use massage therapy to address some of these symptoms, despite the lack of scientific evidence of benefit.
The aim of this study is to assess the effectiveness of calf massage on ambulant boys with Duchenne muscular dystrophy, in order to provide advice to families regarding its use.

The Triple F study – Footwear, fatigue and falls in paediatric neuromuscular disease
Children and teens with weakness caused by neuromuscular disorders such as Charcot-Marie-Tooth disease, Duchenne muscular dystrophy and Becker muscular dystrophy often complain of problems with walking. These problems include: difficulties when wearing different types of footwear; frequent trips and falls; and physical fatigue when walking longer distances.
The Triple F study is exploring whether different fitting footwear effects walking among children and teens with these neuromuscular disorders. The study is also examining whether walking changes over distance and the incidence of falls in this population.

Research News
Dr Eppie Yiu and Professor Joshua Burns from the Centre of Research Excellence in Neuromuscular Disorders and the Australasian Neuromuscular Network (ANN) are leading a team of Australian and international experts in the development of a clinical practice guideline for children with Charcot-Marie-Tooth disease (CMT). The guideline will fill a significant gap in for the care of childhood CMT, setting out recommendations for the management and anticipatory monitoring of children with CMT. The complete guideline will provide evidence-based and consensus-based treatment recommendations for problems associated with CMT, including muscle cramps, weakness, pain and impaired mobility. It will also provide guidance for monitoring common associated conditions such as hip dysplasia, and vision and hearing difficulties. The guideline development is being overseen by an advisory committee of neuromuscular practitioners and guideline method experts, in consultation with individuals with CMT, and their family members. Stay tuned for …further updates as the guideline is...
Research News
Professor Joshua Burns , Dr Manoj Menezes and the Centre of Research Excellence in Neuromuscular Disorders have just released a new app for early career neurologists, medical trainees and clinicians looking to further understand the genetic basis of Charcot-Marie-Tooth disease (CMT). The CMT Gene Explorer is an educational app for iPad that guides the decision making process for identifying and prioritising genes to test for CMT. CMT is the most common inherited nerve disorder, affecting children and adults. It is characterised by progressive motor and sensory nerve damage, which leads to weakness and sensory loss in the feet, hands and limbs, as well as foot deformities, ankle instability and difficulties with balance and walking. CMT can appear clinically similar among individuals, yet its genetic basis is complex and diverse, making it difficult for health professionals to pin-point which genes to test for CMT. To date, more than 80 genes have...
Research News
A Practice Brief examining the use of creatine monohydrate for the treatment of muscle weakness in Duchenne Muscular Dystrophy (DMD) has just been released. Professor Monique Ryan and her team at the Royal Children's Hospital and Centre of Research Excellence in Neuromuscular Disorders have developed the Practice Brief for paediatricians, paediatric neurologists and other medical & allied health professionals involved in the care of those with DMD. What does the practice brief provide? A summary of the evidence on dietary supplementation in DMD with creatine monohydrate Guidance on creatine monohydrate dosing in DMD Key sources of information and support for those with DMD and their treating health professionals Practice Brief: Creatine monohydrate and DMD
Research News
A Practice Brief focusing on foot care for people with Charcot-Marie-Tooth disease (CMT) has been developed by Professor Josh Burns and the Centre of Research Excellence in Neuromuscular Disorders. The resource is especially designed for frontline allied health clinicians such as Podiatrists, Physiotherapists, Orthotists and Pedorthists. What does the Practice Brief provide? A description of CMT signs and symptoms. Tips for facilitating diagnosis for an individual showing signs and symptoms of CMT. Strategies for regular care of the feet and ankles of someone with CMT, including stretching interventions and recommendations for foot and ankle orthoses. Key sources of information and support for people with CMT and their treating health professionals. Charcot-Marie-Tooth: why feet matter
Research News
Drs Zoe Davidson and Paula Bray from the Centre of Research Excellence in Neuromuscular Disorders and the Australasian Neuromuscular Network (ANN) are leading a team of allied health and nursing experts from Australia and New Zealand to develop a clinical practice guideline for Duchenne muscular dystrophy (DMD). The proposed guideline will provide evidence-based guidance specific to allied health and nursing practice for the assessment and management of those with DMD. The key principal of care for people with DMD is preventative management, much of which is delivered by allied health professionals and nurses. The guideline will provide evidence based recommendations and expert advice on assessment and management of physical, cognitive and psychosocial well-being. The methodology for the guideline development will be conducted in accordance with the “Procedures and requirements for meeting the 2011 National Health and Medical Research Council’s standard for clinical practice guidelines”. This process is overseen by an...
Institute News
Professor Josh Burns and the Centre of Research Excellence in Neuromuscular Disorders has just finalised a new calculation tool to measure the level of disability in children with Charcot-Marie-Tooth disease (CMT).
Speaker at lecturn
Institute News
The Muscular Dystrophy Association of New Zealand and the Australasian Neuromuscular Network have joined forces to run the 2015 Life Without Limits conference. The conference will be in Auckland, New Zealand from 16-18 April. Visit the Muscular Dystrophy Association of New Zealand’s website for more information.

CMT Gene Explorer

The CMT Gene Explorer is an educational app developed for early career neurologists, medical trainees and clinicians looking to further understand the genetic basis of Charcot-Marie-Tooth disease (CMT).

The CMT Gene Explorer has been developed from a set of algorithms that combine clinical phenotypes, neurophysiology and prevalence of CMT. It guides the user through a series of simple steps for identifying and prioritising genes to test CMT.

To begin, search CMT GE in the app store and download to iPad for FREE. Tap on ‘new test’ in the app and follow the simple steps.

For more background information and directions on its use, see the ABOUT and Conditions of Use sections of the app.

 

Practice Brief for Duchenne muscular dystrophy

A practice brief examining the use of creatine monohydrate for the treatment of muscle weakness in Duchenne Muscular Dystrophy (DMD) has been developed by Professor Monique Ryan and her team at the Royal Children's Hospital and Centre of Research Excellence in Neuromuscular Disorders.

The Brief has been developed for paediatricians, paediatric neurologists and other medical & allied health professionals involved in the care of those with DMD.

PDF iconPractice Brief: Creatine and DMD

 

Practice Brief for Charcot-Marie-Tooth disease

A Practice Brief focusing on foot care for people with Charcot-Marie-Tooth disease (CMT) has been developed by Professor Josh Burns and the Centre of Research Excellence in Neuromuscular Disorders. The resource has been especially designed for frontline allied health clinicians such as Podiatrists, Physiotherapists, Orthotists and Pedorthists.

PDF iconCharcot-Marie-Tooth : why feet matter

 

The CMTPedS Calculator

The CMTPedS Calculator is a user-friendly online tool developed to support the CMT Pediatric Scale, which collects validated measures of strength, dexterity, sensation, gait, balance, power and endurance to establish severity of disease and monitor changes over time in children with Charcot-Marie-Tooth disease (CMT). It can also be used to evaluate outcomes in studies of existing or new treatments for CMT.

Clinicians and researchers can enter patient data live into the CMTPedS Calculator to rapidly determine disease severity and generate a clinical report for patient correspondence and records. To start using the calculator, go to www.cmtpeds.org

 

Patient support groups

Publication
Year: 
2014
Volume: 
24
Issue: 
4
Citation: 
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN. Diagnostic approach to the congenital muscular dystrophies. Neuromuscular disorders : NMD 24 (4) : 289 - 311(2014) PubMed (PDF)
Publication
Year: 
2013
Citation: 
Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, Stark Z. 5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases. American journal of medical genetics. Part A (2013) PubMed
Publication
Year: 
2013
Volume: 
22
Issue: 
7
Citation: 
Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Zuchner S, Ryan MM, Nicholson GA. A new locus for X-linked dominant CharcotMarieTooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. HUMAN MOLECULAR GENETICS 22 (7) : 1404 - 1416(2013) PubMed
Publication
Year: 
2013
Volume: 
16
Issue: 
5
Citation: 
Gowdie PJ, Allen RC, Kornberg AJ, Akikusa JD. Clinical features and disease course of patients with juvenile dermatomyositis. INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES 16 (5) : 561 - 567(2013)
Publication
Year: 
2013
Citation: 
Howell KB, Kornberg AJ, Harvey AS, Ryan MM, Mackay MT, Freeman JL, Rodriguez Casero MV, Collins KJ, Hayman M, Mohamed A, Ware TL, Clark D, Bruno DL, Burgess T, Slater H, McGillivray G, Leventer RJ. High resolution chromosomal microarray in undiagnosed neurological disorders. JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2013) PubMed
Publication
Year: 
2013
Volume: 
92
Issue: 
6
Citation: 
Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, North KN, Reilly MM. Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. American Journal of Human Genetics 92 (6) : 965 - 973(2013) PubMed
Publication
Year: 
2013
Volume: 
93
Issue: 
1
Citation: 
Carss KJ, North KN, Muntoni F. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan. American Journal of Human Genetics 93 (1) : 29 - 41(2013) PubMed
Publication
Year: 
2013
Volume: 
93
Issue: 
1
Citation: 
Ravenscroft G, North KN, Laing NG. Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. American Journal of Human Genetics 93 (1) : 6 - 18(2013) PubMed
Publication
Year: 
2013
Volume: 
136
Issue: 
12
Citation: 
Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, Lamande S, Hu Y, Gualandi F, Auh S, Muntoni F, Bonnemann CG. Natural history of pulmonary function in collagen VI-related myopathies. BRAIN 136 (12) : 3625 - 3633(2013) PubMed
Publication
Year: 
2013
Volume: 
25
Issue: 
6
Citation: 
Ryan MM. Pediatric Guillain-Barre syndrome. Current opinion in pediatrics 25 (6) : 689 - 693(2013) PubMed