Research CURRICULUM VITAE
Dr Maria Kinali
Consultant Paediatric Neurologist
November 2013
1
Personal data
Full Name:
Dr Maria Kinali
Nationality:
Greek
E-mail address:
[email protected]; [email protected]
Work number:
+4420 8746 8645
Mobile number:
+44 7799213454
Home address:
69 Gloucester Road, Richmond, Surrey, TW9 3BT
Professional Organisations

UK General Medical Council: Full membership, No: 4077471, February 1994

Patras Greek Medical Council: Full membership, December 2000

Royal College of Paediatrics and Child Health: Associate membership, No: 17249, July 2003

British Paediatric Neurology Association, European Paediatric Neurology Society, American
Academy of Neurology, World Muscle Society and Greek Paediatric Neurology Society

BMA, membership number: 7768187, September 2009

MDU, membership number: 576497B, May 2010
Qualifications

1st Lyceum, Athens, Greece (Honours, 1911/12/20), Chemistry, Physics, Biology, Advanced
Mathematics, Literature September 1985

‘Ptychio Iatrikes’, MBBS equivalent: July 1992 (Grade: very good), University of Patras, Medical
School, Greece

Certification of completion of Specialist training in Paediatrics (CCT): December 2000, University of
Patras, Medical School, Greece

Inclusion in UK Specialist Register (CCT) in Paediatrics: March 2001

Subspecialty recognition (CCT) in Paediatric Neurology: 5th June 2008
Current Appointment

Consultant Paediatric Neurologist, Department of Paediatrics, Chelsea and Westminster Hospital,
London, from 1st June 2009

Honorary Senior Lecturer in Paediatric Neurology, Imperial College, London , from 1st June 2009

Consultant Paediatric Neurologist, BUPA Cromwell Hospital, London from 1st September 2009

Honorary Consultant Paediatric Neurologist, Royal Brompton Hospital, London from January 2010

Consultant Paediatric Neurologist, The Portland Hospital, London from February 2012
MD thesis

“Therapeutic methods in Duchenne Muscular Dystrophy: short-term and long-term impact
on the disease evolution and quality of life”. University of London, awarded 31st July 2007.
2
Summary of previous Appointments
Date
Place
Grade
Educational Supervisor
Post inclusion in UK Specialist Register in Paediatrics: March 2001
April 2005-May 2009
Hammersmith Hospital,
Senior Clinical Research
Imperial College,
Fellow and Honorary
London W12 0NN,
Consultant in Neuromuscular
transfer under TUPE to
Paediatrics
Prof Francesco Muntoni
Institute of Child Health,
University College
London and Great
Ormond Street Hospital,
London, WC1N 3JH on
1st April 2008
April 2005-October 2008
Hammersmith Hospital,
Locum Consultant in
London, W12 0NN
Ambulatory Paediatrics
Dr Nicky Coote
(partial shift 1:7 rota
June 2007-December 2007
St Mary’s Child and
Clinical Research Fellow in
Prof Elena Garralda
Adolescent Mental
Child and adolescent
Dr Celia McElwee
Health Service, 17
Neuropsychiatry (SPR
Paddington Green,
equivalent)-part-time
London, W21LG
March 2006-March 2007
March 2004-March 2005
Charing Cross Hospital,
Clinical Research Fellow in
Fulham Palace Road,
Adult Neurology (SPR
London, W6 8RF
equivalent)-part-time
Great Ormond Street
Clinical Fellow in
Hospital, London,
Paediatric Neurology
WC1N 3JH
(SPR equivalent), 1:10 on
Dr Richard Perry
Prof Helen J Cross
call-full-time
April 2003-February 2004:
Hammersmith Hospital,
Clinical Lecturer in Paediatric
Academic: Prof
London, W12 0NN
Neuromuscular Disorders
Francesco Muntoni
(SPR equivalent )-full time
Clinical: Dr Adnan Y
Manzur
April 2001-March 2003:
Hammersmith Hospital,
Clinical Research Fellow in
Academic: Prof
London, W12 0NN /
Paediatic Neuromuscular
Francesco Muntoni
Portland Hospital,
Disorders /Resident Medical
Clinical: Dr Adnan Y
London, W1W 5AH
Officer in Paediatrics/
Manzur
Neonates and paediatric
3
subspecialties (SPR
equivalent), 1:5 on call-fulltime
Pre inclusion in UK Specialist Register in Paediatrics: March 2001
November 1999-April 2001:
Hammersmith Hospital,
Clinical Research Fellow in
Academic: Prof
London, W12 0NN
Paediatic Neuromuscular
Francesco Muntoni
Disorders / SPR in
Clinical: Dr Adnan Y
Paediatrics, 1:5 on call-full-
Manzur
time
April 1999- October 1999:
Hammersmith Hospital,
Senior House Officer in
London, W12 0NN
Paediatrics, 1:5 on call-full-
Prof David Harvey
time
October 1998- March 1999:
April 1998-September 1998:
Hammersmith Hospital,
Senior House Officer in
Prof Neena Modi
London, W12 0NN
Neonates, 1:5 on call
Hillingdon Hospital,
Senior House Officer in
Paediatrics/Community:
Middlesex, UB8 3NN
Paediatrics /Community/
Dr Roger Buckdahl
Neonates, 1:5 on call-full-time
Neonates: Dr Abbas
Kakkoo
September 1997- March 1998:
King’s College Hospital,
Clinical Research Fellow
London, SE5 9RS
Neonatal Intensive Care Unit
Prof Anne Greenough
(SPR equivalent)-full-time
March 1997-August 1997:
Piraeus District General
Clinical Fellow Neonatal
Hospital, Greece
Intensive Care Unit (SPR
Prof Christos Costalos
equivalent)-full-time
May 1995-May 1997:
Asclipeion Hospital,
Senior House Officer and
Greece
SPR in Paediatrics, 1:5 on
Dr Stavroula Papadakou
call-full-time
November 1992-November 1994:
Kalamata DGH, Greece
Senior House Officer in A &
General Surgery :
E, General Surgery and GP
Mr Andreas Chrisomallis
service, 1:5 on call-full-time
Key oral presentations:
“Fits, faints and funny turns in children”: Royal Society of Medicine, May 2013
“Seizures in Children”: GP BUPA Cromwell meeting, Science Museum, London, November 2011
“Seizures in Childhood”: Independent Doctors Forum (IDF) meeting, Royal Society of Medicine, London,
November 2010
“The diagnosis and management of congenital myasthenic syndromes”: Neonatal Update Course,
Imperial College, London, November 2010
4
Unsteadiness without vertigo in children: Neuro-autology trainees meeting, Charring Cross Hospital, July
2010
The diagnosis and management of the floppy infant: Excellence in pediatrics conference. Florence 6 th
December 2009
The Congenital Myasthenic Syndromes-diagnostic and management challenges
MDA Hellas, St Sofia University Paediatric Hospital, Athens Greece, March 2009
Duchenne Muscular Dystrophy: standards of care
Update in Neuromuscular Disorders, National Hospital for Neurology and Neurosurgery, London, June 2008
Duchenne Muscular Dystrophy; the clinical trials
Association of Genetic Nurses Spring Meeting, London, May 2008
Duchenne Muscular Dystrophy; the clinical trials
Action Duchenne Support Group, Llandough Hospital, Cardiff, Wales, March 2008
Duchenne Muscular Dystrophy: an overview
BPNA trainees meeting, Birmingham, November 2007
New therapeutic approaches for Duchenne Muscular Dystrophy
7th Seminar, Medical Genetics of Athens University, Greece, April 2007
New therapies for Duchenne Muscular Dystrophy: session for Orphan diseases
Neurowoche, Mannheim, Germany, September 2006
Comprehensive management of neuromuscular disorders
Assessment and Management of children with physical disabilities, Institute of Child Health, London, July
2003
What is the effect of corticosteroids on the skeleton?
Steroids in DMD, Round Table, Association Monégasque contre les myopathies, Monte Carlo, June 2003
UK-wide respiratory services
Introduction to Neuromuscular Disorders (for paediatricians): Imperial College, London, June 2003
Management of children with Duchenne Muscular Dystrophy
5th Seminar Paediatric Intensive Care Unit-Acute and Chronic Neurological Problems, Ag Sophia University
Children’s Hospital, Medical School of Athens, Greece, May 2003
Scoliosis surgery in Duchenne Muscular Dystrophy patients
Neuromuscular Symposium, MDC, Southampton, March 2003
Management of scoliosis in Duchenne Muscular Dystrophy
BPNA Annual Meeting, Liverpool, January 2003
The advantages of prolonged ambulation in KAFOs for children with neuromuscular disorders
“Establishing Guidelines for good practice in the early management of hip and spine asymmetry in children
with Neuromuscular disorders” MDC workshop, London, November 2002
Meetings attended including oral and poster presentations:
American Academy of Neurology Annual Meeting,
San Diego, USA,
March 2013
National Neurogenetics Club
Sheffield, UK
March 2013
VNS meeting
Brussels, Belgium
November 2012
National Neurogenetics Club
London, UK
September 2012
BPNA Annual Meeting
London
January 2012
National Neurogenetics Club
London, UK
March 2011
5
Neonatal Update Course
London, UK
November 2010
Independent Doctors Forum Meeting (1/2 day)
London, UK
November 2010
American Academy of Neurology Annual Meeting
Toronto, Canada
April 2010
GI Tract and Impaired Neurology (1/2 day)
London, UK
February 2010
7th
National Neurogenetics Club
London
January 2010
MDC funded workshop on CMS
London
December 2009
Muscle Interest group meeting
London
November 2009
European Paediatric Neurology Society
Harrogate, UK
October 2009
London myology Forum, King’s College
London
May 2008
Muscle Interest Group Meeting, Institute of Child
London
April 2008
International Inaugural Neuromuscular Conference
London
February 2008
BPNA Annual Meeting
Leeds
January 2008
5th International PPUK Conference
London
November 2007
World Muscle Society
Taormina, Italy
October 2007
149th
Naarden, Netherlands
February 2007
BPNA Annual Meeting
Edinburgh
January 2007
BPNA Trainees’ Meeting
Edinburgh
January 2007
World Muscle Society
Brugge, Belgium
October 2006
Neurowoche
Mannheim, Germany
September 2006
BPNA Annual Meeting
Bristol
January 2006
BPNA Annual Meeting
London
January 2005
6 Epilepsy Expert Meeting
Seville, Spain
October 2004
BPNA Annual Meeting
Sheffield
January 2004
BPNA Trainees’ Meeting
Sheffield
January 2004
British Thoracic Society, winter meeting
London
December 2003
European Paediatric Neurology Society
Taormina, Italy
October 2003
World Muscle Society
Szeged, Hungary
September 2003
Steroids in DMD, Round Table, Association
Monte Carlo
June 2003
MDC Neuromuscular Symposium
Southampton
March 2003
BPNA Annual Meeting
Liverpool
January 2003
World Muscle Society
Rotterdam, Netherlands
October 2002
Seventh Biennial Meeting of the ESMNR
London
March 2002
BPNA Annual Meeting
Newcastle
January 2002
European Paediatric Neurology Society
Baden-Baden, Germany
September 2001
World Muscle Society
Utah, USA
September 2001
BPNA Annual Meeting
Guy’s Hospital
January 2001
Health
ENMC International Workshop
th
Monégasque contre les myopathies
Training courses:
American Academy of Neurology Annual Meeting: San Diego, USA, March 2013
Chronic Migraine Injectors training Course: Northampton General Hospital, July 2012
6
Paediatric Epilepsy Training Course III: Edinburgh, March 2012
BPNA 2008 Personal Practice sessions: London, January 2012
Paediatric Epilepsy Training Course III: Edinburgh, March 2011
Child protection course, level 3: Chelsea and Westminster Hospital, May 2010
American Academy of Neurology Annual Meeting Toronto, Canada: April 2010
Child Safeguarding today: practical approaches and new initiatives: Royal Society of Medicine,
October 2009
Paediatric Epilepsy Training Course III: Edinburgh, November 2009
Paediatric Cerebrovascular Disease Day: Institute of Child Health, July 2009
Paediatric Epilepsy Training Course II: Institute of Child Health, June and November 2009
Good Clinical Practice Course: Research and Development Office, Institute of Child Health, June 2008
Update on Child protection: Hammersmith Hospital, May 2008
BPNA 2008 Personal Practice sessions: Leeds, January 2008
Training in Good Clinical Practice: Clinical Research Office, Imperial College, December 2007, in
collaboration with the Institute for Clinical Research
Training in Good Clinical Practice: Hammersmith Hospital, February 2007, AVI Biopharma
Update in Neuromuscular Disorders: Imperial College London, from 2000-2008, annually
Advanced Paediatric Life Support:
Great Ormond Street Hospital, London, August 2007
St Mary’s Hospital, London, Nov 2002 and Nov 1998
Hammersmith Consultants Interview Skills Course: March 2007
BPNA 2007 Personal Practice sessions: Edinburgh, January 2007
Lunch-time workshops: Clinical Research Office, Imperial College, monthly for 2006-2007
Improving the use of Electromyography in Paediatrics: Great Ormond Street Hospital London, October
2005
Research in medical ethics: Hammersmith Hospital, February 2005
BPNA distance learning course: Sheffield, From Jan 2004
European Paediatric Neurology Society course on Epilepsy and other Paroxysmal disorders:
Taormina, Italy, October 2003
Preparatory Course for young myologists: World Muscle Society, Szeged, Hungary, September 2003
Introduction to Neuromuscular Disorders (for paediatricians): Imperial College, London, June 2003
Paediatric Neuroradiology Survival day: Royal College of Radiologists, London, April 2003
Ultrasound Imaging of the Neonatal Brain: Hammersmith Hospital, September 2002, June 2003
Griffiths Neurodevelopment Course: March 2002
Child Abuse and Neglect: Imperial College, May 2002-revalidation at the Hammersmith Hospital,
May 2008
Neonatal Advanced Life Support: West Sussex Hospitals, July 2002
ACADEMIC EXPERIENCE
Grants:
My work has been funded by the following departmental grants

Two-year “Dubowitz Fellowship”, November 1999, funded by the Dutch parents Project, The Netherlands
7

Department of Health grant, April 2005-31st December 2008, Restoring Dystrophin Expression in
Duchenne muscular dystrophy: Preclinical Optimisation and a Phase I/II Clinical Trial using a Morpholino
Antisense Oligonucleotide, AVI 4658 -Grant awarded jointly to MDEX consortium, PI: Professor Francesco
Muntoni
My work as a grant co-applicant to Association Française contre les Myopathies (AFM) from 2007
onwards and continues to be funded (initial year Euro 31,000 and similar funds annually ever since):

Targeted systemic gene therapy for Duchenne muscular Dystrophy
I was a grant co-applicant to MDC for 2007-2008 calls for funding:

A pilot study of Losartan in Duchenne Muscular Dystrophy
MD Thesis: University of London, awarded 31st July 2007, Supervisor Prof F Muntoni
Duchenne Muscular Dystrophy (DMD) is the most common, fatal form of muscular dystrophy. Symptomatic
and palliative treatment is essential to decelerate the disease course, improve survival and enhance the
patient's quality of life. While the search for a cure continues, different therapeutic methods have changed
the DMD natural history, although optimum regimes and/or timing for intervention have rarely been
scientifically corroborated. At the Hammersmith Hospital, I was fortunate to participate in the diagnosis and
follow-up of a large population of DMD patients and encouraged to develop a proactive approach to their
overall management.
My MD thesis examined of the effects that specific interventions (pharmacological, physiotherapy, orthotics
and surgery) might have played in modulating the natural history of the disease in a large patient cohort.
Although this was not an epidemiological study, it reflects the clinical practice of a large UK neuromuscular
centre, allowing worldwide comparisons. Amongst the interventions studied, were the respiratory
management and the introduction of steroids. A survey on UK physicians confirmed wide practices regarding
respiratory monitoring and disclosure of ventilation options. The need for wider dissemination of respiratory
guidelines for the standardisation of respiratory care is highlighted. This thesis summates our Unit’s
experience in the use of low-dose intermittent prednisolone. The loss of ambulation at the upper age of DMD
spectrum and the delayed scoliosis onset, suggested a suboptimal benefit of this regime. The safety of this
regime on weight gain, mood/behavioural changes and bone health could not be discounted. This work
highlighted that late intervention with intermittent steroids is disappointing, and that early intervention, which
anecdotally maybe better is worth large prospective studies. This thesis confirmed that scoliosis is not an
invariable complication. Steroids and/or KAFOs reduce scoliosis risk by prolonging ambulation and standing.
Contrary to worldwide practices a third of patients could be managed conservatively. Scoliosis onset before
14 years and/or deterioration >20o/year requires surgery. The increased understanding of the early
involvement of cardiac muscle has improved surveillance. This thesis defined the natural history of
cardiomyopathy in DMD by demonstrating how novel echocardiography techniques, identify cardiac
dysfunction in patients with normal routine heart echocardiograms. These patients should be subsequently
treated.
*My work from this thesis on the scoliosis management has been annotated in Nat. Clin. Pract. Neurol.
January 2007, “Do all patients with Duchenne muscular dystrophy require surgery for the correction of
scoliosis?” Strober JB
Translational research-Clinical trials
8
“Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: A Phase I/II Clinical Trial Using
AVI-4658” EudraCT: 2006-003833-33
I was the Senior Clinical Research Fellow on the above clinical trial. The purpose of this single-blinded and
controlled trial was to evaluate the safety and efficacy of a single intramuscular (IM) dose of AVI-4658, a
phosphorodiamidate Morpholino oligomer (PMO) at increasing dosages in up to 9 DMD patients.
My
involvement in this trial was key. My duties have been summarised below:
Development of the clinical trial protocol;
Writing up various documents for the regulatory authorities (Gene Therapy Advisory Committee
and Medicines and Healthcare products Regulatory Agency-clinical part) and ethics/R&D
applications;
Designing and writing up patient information leaflets and consent /assent forms;
Designing various proformas for patient recruitment and care pathways/standard operative
procedures;
Assisting with the design of the Case Report Forms;
Creating a large UK database with anonymised information on potential participants;
Coordination of a large UK network of 25 consultant Paediatric neurologist (details above);
Establishing links with Paediatric consultants from several UK Hospitals (details above);
I was responsible for the patients’ recruitment, consent and organising screening investigations;
I was responsible for organising patient’s admission and coordinating this with a team of several
clinicians based at St Mary’s Hospital (Paediatric Research Unit Facility) and scientists at the
Dubowitz Neuromuscular Centre at the Hammersmith. I was responsible for the ongoing follow-up
of these patients;
I coordinated response to enquiries of potential participant families at a national and international
level;
I developed a frequent Q&A document for the clinical trial. This has been approved and can be
accessed via the websites of two major UK parent organisations and the Muscular Dystrophy
Campaign;
Documents handling;
Data handling and record keeping including trial codes;
Preparing three monthly clinical progress reports for the DOH;
Member of the trial management committee and the MDEX consortium (details above);
Regularly updating the websites such as the ClinicalTrial.gov and registering the trial with websites
such as Orphanet;
Meetings with Gene Therapy Advisory Committee (GTAC) and the Medicine for Health and
Research Agency (MHRA) during the clinical trial inspection;
Costing and managing clinical trial budget (details above);
Writing clinical research nurse job description and supervising this post (details above).
The results of this clinical trial have now been published in Lancet Neurology. I have also contributed in
setting up the systemic arm of the above clinical trial at the Great Ormond Street Hospital. The trial has now
been completed and results are due to be published in a peer reviewed journal.
“A Phase 2b Efficacy and Safety Study of PTC124 in Subjects with Nonsense−Mutation−Mediated
Duchenne and Becker Muscular Dystrophy”
9
I was also involved as a Senior Clinical Research Fellow on the above clinical trial. This was a randomised,
double-blind, multicentre, parallel group, placebo controlled study stratified by age (less then 9 years versus
more than or equal to 9 years), concomitant use of corticosteroids at baseline (yes versus no) and walking
function at baseline (more than or equal to 270 meters or less than 270 meters).
Pilot trial of Albuterol in Spinal Muscular Atrophy: design/ethics application/statistical analysis/first
author
My work on the effect of Albuterol in Spinal muscular atrophy has been annotated in Current Neurology and
Neuroscience reports in January 2003 as “A Novel Potential Therapy for Spinal Muscular Atrophy” by Michio
Hirano.
Pilot trial of salbutamol in central core and multi-minicore diseases: design/ethics applications
/statistical analysis/co-investigator
Randomised, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy; coinvestigator
Pilot trial of phenylbutyrate in spinal muscular atrophy: co-investigator
An effective, low-dosage, intermittent schedule of prednisolone in the long-term treatment of early
cases of Duchenne dystrophy: co-investigator/analysis/first author
Translational research-Scientific Consortia
I am part of the recently convened (2010) Advisory Board for a new gene therapy in Spinal Muscular
Atrophy. This is a Phase I/II Study to Evaluate AAV9-coSMN in Pre-symptomatic Infants with Spinal
Muscular Atrophy. Academic lead Professor Mimoun Azouz, Chair of Translational Neuroscience
Sheffield Institute for Translational Neuroscience, University of Sheffield
Other research Interests:
I have collaborated with various specialties clinicians and scientists to address the full scope of problems
affecting the muscle, brain, spine and nervous system.
Natural history studies:
To this extent I have worked on the characterisation of the natural history of different neuromuscular
disorders and their complications. Work from my MD thesis describes in detail some of the commonest
complications of DMD such as scoliosis.
Defining the phenotypes:
I have also contributed in better characterising the phenotypes of a number of neuromuscular conditions
(such as congenital onset spinal muscular atrophy of the lower limbs, potassium channelopathies, congenital
muscular dystrophies-dystroglycanopathies and Collagen VI disorders- myopathies and congenital
myasthenic syndromes, hereditary sensory and autonomic neuropathy).
Heart muscle:
The mechanisms of development of cardiomyopathy in patients with muscular dystrophy are complicated
and not fully investigated. As part of my work in my MD thesis I looked into the myocardial tissue Doppler
velocities. This technique measures Doppler myocardial velocity data and when compared with Pulsed
Tissue Doppler Imaging is less influenced by translational motion of the heart or myocardial tethering as well
as preload and has been used to assess diastolic and systolic dysfunction. Work form my thesis showed that
with this technique it is possible to identify early myocardial dysfunction in young patients with DMD without
10
cardiac
symptoms
and/or
conventional
echocardiographic
and
electrocardiographic
signs
of
cardiomyopathy.
I have also been involved in studying the primary myocardial dysfunction in Autosomal Dominant EDMD by
using a Tissue Doppler and Cardiovascular Magnetic Resonance Study. I have also been involved in studying
the Vascular Smooth Muscle dysfunction in patients with Limb girdle Muscular Dystrophies due to
sarcoglycan deficiencies. This study has looked into the vasodilatory response of different arteries (Brachial,
carotid and femoral) by using a standard HDI 5000 ultrasound system.
Pharmacological-management interventions:
Another area that has received particular attention in my work is a variety of pharmacological interventions
that could be offered and supportive measures to individuals with neuromuscular disorders. To this extent I
have looked at the effect an intermittent steroid regime in DMD both in the short and long-term; the effect of
salbutamol and phenylbutyrate in spinal muscular atrophy; the effect of serial casting of the ankles as an
alternative to surgery in DMD. I have looked into the effect of scoliosis management in DMD and involved in
the detailed characterisation of feeding problems in DMD, SMA and the value of use of videofluoroscopy.
Patients-family adjustment to illness:
My other ongoing work is being involved into the adjustment of families to chronic illness and in particular to
the Sibling adjustment to DMD and patient and sibling and family response to nocturnal ventilation in
neuromuscular disease. This work is now published in the European Journal of Paediatric Neurology. I am
also interested in the neuropsychiatric profile of patients and families taking part in clinical trials and their
coping strategies.
Establishing parameters for future clinical trials:
I was involved in a prospective study to assess the feasibility and reliability of Quantitative muscle testing
(QMT) and its correlation with other measures of muscle strength or function in DMD as surrogate markers
of efficacy for future clinical trials. As a co-investigator in a clinical trial aimed at restoring dystrophin
expression in DMD I also worked on understanding the relation between function and dystrophin expression
(revertant fibres) with age in DMD boys.
Muscle MRI:
I am also interested in the optimisation of diagnostic tools for neuromuscular disorders. To this extent I have
further optimised an existing short muscle MRI protocol to correlate muscle imaging with muscle histology
(on-going work). This work helps to identify the best preserved muscle to be studied by using non-invasive
methods for ongoing and future clinical trials.
Biobank:
In view of my interest in translational research I also helped to set up a Rare Diseases biological samples
bank (biobank) for research to facilitate pharmacological, gene and cell therapy trials in neuromuscular
disorders (NMD) at the Hammersmith Trust. This Biobank initiative has now been expanded to include
several other trusts.
While animal studies have boosted the development of novel therapies in the neuromuscular (NMD) field, a
bottleneck is the availability of cell lines from patients to test if these therapeutic strategies might work in the
human. The objective of this project was therefore to create an abundance of tissue and cell lines by
establishing a biological bank for different NMD to facilitate our current effort in translational research
(research from the bench to the bedside) and future clinical trials in NMD. I was the named person for
obtaining consent/assent for the Biobank at the Hammersmith Hospital.
11
Reviewer:

Neuromuscular disorders

European Journal of Paediatric Neurology

MRC grants
Book chapter:

Postural control in children with muscle disease Kinali M, Main M, Mercuri E in Postural Control: a
key issue in developmental disorders by M Hadders-Algra and E Brogren Carlberg Mac Keith Press
(2008)

Neurology Book chapter in Acute neurological presentations and status epilepticus: to be
published in collaboration with GOSH team
Research Ethics Applications:

I have personally contributed in writing several of the research projects I have been involved with. I
have got experience in writing documents for regulatory submissions such as the GTAC and the
MHRA.

R&D approval for Genetics in Human Epilepsy study and the brain function in Rolandic Epilepsy in
collaboration with King's College Hospital in 2012
Academic collaborations:

Genetics in Human Epilepsy study and the brain function in Rolandic Epilepsy in collaboration with
King's College Hospital in 2012. PI Professor Deb Pal.
Publications (59):
1
Aloysius A, Born P, Kinali M, Davis T, Pane M, Mercuri E. (2008) Swallowing difficulties in
Duchenne muscular dystrophy: Indications for feeding assessment and outcome of videofluroscopic
swallow studies. Eur J Paediatr Neurol 12: 239-45.
2
Arechavala-Gomeza V, Graham IR, Popplewell LJ, Adams AM, Aartsma-Rus A, Kinali M,
Morgan JE, van Deutekom JC, Wilton SD, Dickson G, Muntoni F. (2007) Comparative analysis of
antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA
splicing in human muscle. Hum Gene Ther 18: 798-810.
3
Banner KH, Dimitriou G, Kinali M, Page CP, Greenough A. (2000) Evidence to suggest that
the phosphodiesterase 4 isoenzyme is present and involved in the proliferation of umbilical cord
blood mononuclear cells. Clin Exp Allergy 30: 706-12.
4
Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A,
Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S,
North K, Barkovich AJ, Rutherford M, Muntoni F. (2008) Brain involvement in muscular dystrophies
with defective dystroglycan glycosylation. Ann Neurol 64: 573-82.
5
Digalaki K, Economou M, Kinali M, Ziva M, Coutsia-Carouzou C. (1997) Rapid diagnosis of
viral infections in children by use of monoclonal antibodies. . Hellenic virology. Hellenic virology 2: 816.
6
Dubowitz V, Kinali M, Main M, Mercuri E, Muntoni F. (2002) Remission of clinical signs in
early duchenne muscular dystrophy on intermittent low-dosage prednisolone therapy. Eur J Paediatr
Neurol 6: 153-9.
7
Giatrakos N, Kinali M, Stephens D, Dawson D, Muntoni F, Nihoyannopoulos P. (2006)
Cardiac tissue velocities and strain rate in the early detection of myocardial dysfunction of
12
asymptomatic boys with Duchenne's muscular dystrophy: relationship to clinical outcome. Heart 92:
840-2.
8
Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S,
Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur A, Kinali M, Torelli S, Brown SC,
Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. (2007) Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain
130: 2725-35.
9
Greenough A, Naik S, Kinali M, Dimitriou G, Baker A. (1999) Prediction of prolonged
ventilator dependence in children by respiratory function measurements. Physiol Meas 20: 201-5.
10
Hartley L, Kinali M, Knight R, Mercuri E, Hubner C, Bertini E, Manzur AY, JimenezMallebrera C, Sewry CA, Muntoni F. (2007) A congenital myopathy with diaphragmatic weakness not
linked to the SMARD1 locus. Neuromuscul Disord 17: 174-9.
11
Kinali M, Banks LM, Mercuri E, Manzur AY, Muntoni F. (2004) Bone mineral density in a
paediatric spinal muscular atrophy population. Neuropediatrics 35: 325-8.
12
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T,
Palace J, Manzur A, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA. (2008) Congenital
Myasthenic Syndromes in childhood: Diagnostic and management challenges. Journal of
Neuroimmunology 201: 6-12.
13
Kinali M, Greenough A, Dimitriou G, Yuksel B, Hooper R. (1999) Chronic respiratory
morbidity following premature delivery - prediction by prolonged respiratory support requirement?
European Journal of Pediatrics 158: 493-6.
14
Kinali M, Jungbluth H, Eunson LH, Sewry CA, Manzur AY, Mercuri E, Hanna MG, Muntoni
F. (2004) Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal
deformities without prominent Episodic Ataxia. Neuromuscul Disord 14: 689-93.
15
Kinali M, Main M, Eliahoo J, Messina S, Knight RK, Lehousky J, Edge G, Mercuri E, Manzur
AY, Muntoni F. (2007) Predictive factors for the development of scoliosis in Duchenne muscular
dystrophy. European Journal of Paediatric Neurology 11: 160-6.
16
Kinali M, Main M, Mercuri E. (2007) Evolution of abnormal postures in Duchenne Muscular
Dystrophy. Annals of Indian Academy of Neurology 10 44-54.
17
Kinali M, Manzur AY, Mercuri E, Gibson BE, Hartley L, Simonds AK, Muntoni F. (2006) UK
physicians' attitudes and practices in long-term non-invasive ventilation of Duchenne Muscular
Dystrophy. Pediatr Rehabil 9: 351-64.
18
Kinali M, Mercuri E, Main M, De Biasia F, Karatza A, Higgins R, Banks LM, Manzur AY,
Muntoni F. (2002) Pilot trial of albuterol in spinal muscular atrophy. Neurology 59: 609-10.
19
Kinali M, Mercuri E, Main M, Muntoni F, Dubowitz V. (2002) An effective, low-dosage,
intermittent schedule of prednisolone in the long-term treatment of early cases of Duchenne
dystrophy. Neuromuscul Disord 12 Suppl 1: S169-74.
20
Kinali M, Messina S, Mercuri E, Lehovsky J, Edge G, Manzur AY, Muntoni F. (2006)
Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study. Dev
Med Child Neurol 48: 513-8.
21
Kinali M, Robinson R, Manzur AY, Burren CP, Robb SA. (2007) Backache in a Duchenne
boy. Neuromuscul Disord 17: 346-8.
22
Main M, Mercuri E, Haliloglu G, Baker R, Kinali M, Muntoni F. (2007) Serial casting of the
ankles in Duchenne muscular dystrophy: can it be an alternative to surgery? Neuromuscul Disord 17:
227-30.
23
Manzur AY, Kinali M, Muntoni F. (2008) Update on the management of Duchenne muscular
dystrophy. Arch Dis Child 93: 986-90.
24
McDonald DGM, Kinali M, Gallagher AC, Mercuri E, Muntoni F, Roper H, Jardine P, Jones
DH, Pike MG. (2002) Fracture prevalence in Duchenne muscular dystrophy. Developmental
Medicine and Child Neurology 44: 695-8.
25
Mercuri E, Bertini E, Messina S, Pelliccioni M, D'Amico A, Colitto F, Mirabella M, Tiziano FD,
Vitali T, Angelozzi C, Kinali M, Main M, Braheg C. (2004) Pilot trial of phenylbutyrate in spinal
muscular atrophy. Neuromuscular Disorders 14: 130-5.
26
Mercuri E, Bertini E, Messina S, Solari A, D'Amico A, Angelozzi C, Battini R, Berardinelli A,
Boffi P, Bruno C, Cini C, Colitto F, Kinali M, Minetti C, Mongini T, Morandi L, Neri G, Orcesi S, Pane
M, Pelliccioni M, Pini A, Tiziano FD, Villanova M, Vita G, Brahe C. (2007) Randomized, double-blind,
placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology 68: 51-5.
13
27
Mercuri E, Brown SC, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, Piercy RJ,
Messina S, Sewry C, Burke MM, McKenna W, Bonne G, Muntoni F. (2005) Extreme variability of
skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.
Muscle Nerve 31: 602-9.
28
Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Saenz A,
Nascimbeni A, Fulizio L, Angelini C, Muntonia F. (2005) Muscle MRI findings in patients with limb
girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
Neuromuscular Disorders 15: 164-71.
29
Mercuri E, Cini C, Pichiecchio A, Allsop J, Counsell S, Zolkipli Z, Messina S, Kinali M, Brown
SC, Jimenez C, Brockington M, Yuva Y, Sewry CA, Muntoni F. (2003) Muscle magnetic resonance
imaging in patients with congenital muscular dystrophy and Ullrich phenotype. Neuromuscul Disord
13: 554-8.
30
Mercuri E, Counsell S, Allsop J, Jungbluth H, Kinali M, Bonne G, Schwartz K, Bydder G,
Dubowitz V, Muntoni F. (2002) Selective muscle involvement on magnetic resonance imaging in
autosomal dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics 33: 10-4.
31
Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini
A, Bushby K, Pepe G, Muntoni F. (2005) Muscle MRI in Ullrich congenital muscular dystrophy and
Bethlem myopathy. Neuromuscular Disorders 15: 303-10.
32
Mercuri E, Lampe A, Straub V, Yuva Y, Longman C, Wright M, Brown S, Sewry C,
Bonnemann C, Kinali M, Brockington M, Hausser I, Jones DH, Voit T, Bushby K, Muntoni F. (2004)
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.
Neuropediatrics 35: 224-9.
33
Mercuri E, Messina S, Kinali M, Cini C, Longman C, Battini R, Cioni G, Muntoni F. (2004)
Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and
muscle MRI study. Neuromuscul Disord 14: 125-9.
34
Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P,
Sewry C, Pike M, Bonne G, Muntoni F, Bushby K. (2004) Extreme variability of phenotype in patients
with an identical missense mutation in the lamin A/C gene - From congenital onset with severe
phenotype to milder classic Emery-Dreifuss variant. Archives of Neurology 61: 690-4.
35
Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA,
Muntoni F. (2002) Collagen VI involvement in Ullrich syndrome - A clinical, genetic, and
immunohistochemical study. Neurology 58: 1354-9.
36
Messina S, Hartley L, Main M, Kinali M, Jungbluth H, Muntoni F, Mercuri E. (2004) Pilot trial
of salbutamol in central core and multi-minicore diseases. Neuropediatrics 35: 262-6.
37
Messina S, Hartley L, Main M, Kinali M, Jungbluth H, Muntoni F, Mercuri E. (2004) Pilot trial
of Salbutamol in congenital myopathies. Neuromuscular Disorders 14: 597-8.
38
Messina S, Pane M, De Rose P, Vasta I, Sorleti D, Aloysius A, Sciarra F, Mangiola F, Kinali
M, Bertini E, Mercuri E. (2008) Feeding problems and malnutrition in spinal muscular atrophy type II.
Neuromuscul Disord 18: 389-93.
39
Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E,
Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA, Brown SC. (2007)
Muscular dystrophies due to defective glycosylation of dystroglycan. Acta Myol 26: 129-35.
40
Pane M, Vasta I, Messina S, Sorleti D, Aloysius A, Sciarra F, Mangiola F, Kinali M, Ricci E,
Mercuri E. (2006) Feeding problems and weight gain in Duchenne muscular dystrophy. European
Journal of Paediatric Neurology 10: 231-6.
41
Smith GC, Kinali M, Prasad SK, Bonne G, Muntoni F, Pennell DJ, Nihoyannopoulos P.
(2006) Primary myocardial dysfunction in autosomal dominant EDMD. A tissue Doppler and
cardiovascular magnetic resonance study. Journal of Cardiovascular Magnetic Resonance 8: 72330.
42
Vasta I, Kinali M, Messina S, Guzzetta A, Kapellou O, Manzur A, Cowan F, Muntoni F,
Mercuri E. (2005) Can clinical signs identify newborns with neuromuscular disorders? J Pediatr 146:
73-9.
43
Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR,
Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash
M, Muller CR, Brown S, Treves S, Muntoni F. (2007) Molecular mechanisms and phenotypic
variation in RYRI=related congenital myopathies. Brain 130: 2024-36.
44
Jimenez-Mallebrera C, Torelli S, Feng L, Kim J, Godfrey C, Clement E, Mein R, Abbs S,
Brown SC, Campbell KP, Kroger S, Talim B, Topaloglu H, Quinlivan R, Roper H, Childs AM, Kinali
14
M, Sewry CA, Muntoni F. (2008) A Comparative Study of alpha-Dystroglycan Glycosylation in
Dystroglycanopathies Suggests that the Hypoglycosylation of alpha-Dystroglycan Does Not
Consistently Correlate with Clinical Severity. Brain Pathol. Oct;19(4):596-611
45
Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B,
Manzur AY, Robb SA, Mercuri E, Muntoni F. (2009) Natural history of Ullrich congenital muscular
dystrophy. Neurology 73: 25-31.
46
Kinali M, Arechavala-Gomeza V, Feng L, Cirak S, Hunt D, Adkin C, Guglieri M, Ashton E,
Abbs S, Nihoyannopoulos P, Garralda ME, Rutherford M, McCulley C, Popplewell L, Graham IR,
Dickson G, Wood MJ, Wells DJ, Wilton SD, Kole R, Straub V, Bushby K, Sewry C, Morgan JE,
Muntoni F. (2009) Local restoration of dystrophin expression with the morpholino oligomer AVI-4658
in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-ofconcept study. Lancet Neurol. 8:918-28.
47
Read J, Kinali M, Muntoni F, Garralda ME Psychosocial adjustment in siblings of young
people with Duchenne Muscular Dystrophy (2010) Eur J Paediatr Neurol. Jul;14(4):340-8.
48
Arechavala-Gomeza V, Kinali M, Feng L, Brown SC, Sewry C, Morgan JE, Muntoni F.
Immunohistological intensity measurements as a tool to assess sarcolemma- associated protein
expression (2010). Neuropathol Appl Neurobiol. Jun;36(4):265-74
49
Arechavala-Gomeza V, Kinali M, Feng L, Guglieri M, Edge G, Main M, Hunt D, Lehovsky J,
Straub V, Bushby K, Sewry CA, Morgan JE, Muntoni F. Revertant fibres and dystrophin traces in
Duchenne muscular dystrophy: implication for clinical trials (2010). Neuromuscul Disord.
May;20(5):295-301.
50
Read J, Simonds A, Kinali M, Muntoni F, Garralda ME. Sleep and well-being in young men
with neuromuscular disorders receiving non-invasive ventilation and their carers (2010).
Neuromuscul Disord. Jul;20(7):458-63
51
Brugha R, Kinali M, Aminu K, Bridges N, Holder SE (2011). Genitopatellar syndrome: a
further case. Clin Dysmorphol. Jul;20(3):163-5.
52
Ambegaonkar G, Manzur AY, Robb SA, Kinali M, Muntoni F (2011).The multiple phenotypes
of Arthrogryposis multiplex congenita with reference to the neurogenic variant. Eur J Paediatr Neurol.
Jul;15(4):316-9.
53
Kinali M, Arechavala-Gomeza V, Cirak S, Glover A, Guglieri M, Feng L, Hollingsworth KG,
Hunt D, Jungbluth H, Roper HP, Quinlivan RM, Gosalakkal JA, Jayawant S, Nadeau A, HughesCarre L, Manzur AY, Mercuri E, Morgan JE, Straub V, Bushby K, Sewry C, Rutherford M, Muntoni F
(2011).Muscle histology vs MRI in Duchenne muscular dystrophy.Neurology. Jan 25;76(4):346-53
54
Read J, Kinali M, Muntoni F, Weaver T, Garralda ME (2011). Siblings of young people with
Duchenne muscular dystrophy--a qualitative study of impact and coping. Eur J Paediatr Neurol.
Jan;15(1):21-8.
55
Garralda ME, Kinali M, Cirak S, Bushby K, Guglieri M, Straub V, Muntoni F (2011)
Emotional impact of a paediatric exon-skipping therapy trial. Dev Med Child Neurol.
Dec;53(12):1157-9
56
I.E. Scheffer*, B.E. Grinton*, S.E. Heron, S. Kivity, Z. Afawi, X. Iona, H. Goldberg-Stern, M.
Kinali, I. Andrews, R. Guerrini, C. Marini, L.G. Sadleir, S.F. Berkovic, L.M. Dibbens PRRT2
phenotypic spectrum includes sporadic and fever-related infantile seizures
Neurology. 2012 Nov 20;79(21):2104-8
57
Roman Cregg,1,2,* Bisola Laguda,3,* Robert Werdehausen,1,4,* James J. Cox,1, John E.
Linley,1 Juan D Ramirez,5 Istvan Bodi,6 Michael Markiewicz,7 Kevin Howell,8 Ya-Chun Chen,9
Karen Agnew,3 Henry Houlden,10 Michael P. Lunn,10 David L.H. Bennett,5,11,# John N. Wood,1,#
Maria Kinali12,# Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in
variable clinical manifestations of primary erythromelalgia. Neuromolecular Med. 2013 Jan 6
58. Salpietro V, Mankad K, Kinali M, Adams A, Valenzise M, Tortorella G, Gitto E, Polizzi A, Chirico
V, Nicita F, David E, Romeo AC, Squeri CA, Savasta S, Marseglia GL, Arrigo T, Johanson CE,
Ruggieri M. Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic
dysfunction: a pilot study.J Pediatr Endocrinol Metab. 2013 Sep
59. Rao, Veenaa,*; El-Alem, Tareka,*; Aminu, Kingib; Mankad, Kshitijc; Cowan, Francesd; Holder,
Susan E.e,†; Kinali, Maria Chitayat-Hall syndrome: extending the clinical phenotype Clinical
Dysmorphology: October 2013 - Volume 22 - Issue 4 - p 156-160
15
Referees:
Professor J Helen Cross, FRCPCH
Professor of Paediatric Neurology
Head of the Neuroscience Unit
UCL Institute of Child Health
Neurosciences Unit, The Wolfson Centre,
Mecklenburgh Square, UCL, London
WC1N 2AP
Tel: +4420 7905 2981
Email: [email protected]
Professor Francesco Muntoni, FRCPCH,
FMedSci
Professor of Paediatric Neurology
Head of the Dubowitz Neuromuscular Centre
1st Floor
UCL Institute of Child Health
30 Guilford Street
London
WC1N 1EH
Tel: +4420 7905 2111
Fax: +4420 7905 2832
Email: [email protected]
Mr Simon Eccles
Consultant Craniofacial Surgeon
Director of Paediatrics
Chelsea and Westminster Hospital
369 Fulham Road
London
Tel: +44208 746 8600
Email:[email protected]
16