Publications by authors named "Maria Kinali"

48Publications

Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder.

Brain 2020 03;143(3):811-832

Gene Therapy, Section of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, London W12 0NN, UK.

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http://dx.doi.org/10.1093/brain/awaa028DOI Listing
March 2020

Neuroimaging Spectrum of Inherited Neurotransmitter Disorders.

Neuropediatrics 2020 02 21;51(1):6-21. Epub 2019 Oct 21.

Department of Diagnostic Imaging, National University Health System, Singapore, Singapore.

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http://dx.doi.org/10.1055/s-0039-1698422DOI Listing
February 2020

mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders.

J Genet 2019 06;98(2)

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London SW10 9NH, UK.

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June 2019

A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations.

Case Rep Pediatr 2019 26;2019:7640140. Epub 2019 Mar 26.

Royal Brompton and Harefield NHS Foundation Trust, Sydney Street, London SW3 6NP, UK.

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https://www.hindawi.com/journals/cripe/2019/7640140/
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http://dx.doi.org/10.1155/2019/7640140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458885PMC
March 2019

Autism spectrum disorder: prospects for treatment using gene therapy.

Mol Autism 2018 20;9:39. Epub 2018 Jun 20.

1Gene Therapy, Centre for Neuroinflammation and Neurodegeneration, Division of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Hospital Campus, W12 0NN, London, UK.

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http://dx.doi.org/10.1186/s13229-018-0222-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011246PMC
October 2018

Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation.

Indian J Pediatr 2018 08 18;85(8):690. Epub 2017 Dec 18.

Department of Pediatric Neurology, Chelsea and Westminster Hospital, NHS Foundation Trust, Imperial College University, 369 Fulham Road, London, SW10 9NH, UK.

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http://dx.doi.org/10.1007/s12098-017-2568-xDOI Listing
August 2018

Use of the Ketogenic Diet to Treat Intractable Epilepsy in Mitochondrial Disorders.

J Clin Med 2017 May 26;6(6). Epub 2017 May 26.

Chelsea and Westmister Hospital, 369 Fulham road, Chelsea, London SW10 9NH, UK.

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http://dx.doi.org/10.3390/jcm6060056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5483866PMC
May 2017

Posterior reversible encephalopathy syndrome after intrathecal methotrexate infusion: a case report and literature update.

Quant Imaging Med Surg 2016 Oct;6(5):605-611

The second Paediatric Department, Aristotle University of Thessaloniki, AHEPA University General Hospital, Thessaloniki, Greece.

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http://dx.doi.org/10.21037/qims.2016.10.07DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130557PMC
October 2016

A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.

Brain Dev 2017 Mar 25;39(3):271-274. Epub 2016 Oct 25.

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2016.09.012DOI Listing
March 2017

A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.

Ann Clin Transl Neurol 2016 07 2;3(7):512-22. Epub 2016 Jun 2.

Program in Genetics and Genome Biology The Hospital for Sick Children Toronto Ontario M5G 0A4 Canada; Division of Biostatistics Dalla Lana School of Public Health University of Toronto Toronto Ontario M5T 3M7 Canada; The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario M5G 0A4 Canada.

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http://dx.doi.org/10.1002/acn3.320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4931716PMC
July 2016

Delineation of the movement disorders associated with FOXG1 mutations.

Neurology 2016 05 30;86(19):1794-800. Epub 2016 Mar 30.

From Molecular Neurosciences (A.P., J.N., E.M., A.M., A.N., S.S.M., B.P.-D., M.A.K.), Developmental Neurosciences Programme, University College London-Institute of Child Health; Departments of Neurology (A.P., C.H., R.R., S.M.V., M.A.K.) and Neuroradiology (K.M.), Department of Molecular Genetics, North East Thames Regional Genetics Services (N.T., L.J.), and Department of Clinical Genetics (R.H.S., J.A.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Department of Neurology (R.B.S., E.F.A., A.R.P.), Center for Human Experimental Therapeutics (E.F.A.), and Departments of Pediatrics and Biomedical Genetics (A.R.P.), University of Rochester Medical Center, NY; Gene Transfer Technology Group (J.N.), UCL-Institute for Women's Health, London; Departments of Paediatric Neurology (M.K., V.S.) and Paediatrics (M.C.O.), Chelsea and Westminster NHS Foundation Trust, London; Department of Perinatal Neurology (S.N.B.), Hammersmith Hospital, London, UK; Institute for Neuroscience and Muscle Research (R.I.W.), Department of Neurology (R.I.W.), and Neuroimmunology Group, Institute for Neuroscience and Muscle Research (S.S.M.), The Children's Hospital at Westmead, Sydney, Australia; Child Development Centre (S.P., M.M.) and South West Thames Regional Genetics Service (F.E.), St George's University Hospitals NHS Foundation Trust, London, UK; and Department of Child Neurology (B.P.-D.) and Centre for Biomedical Research in Rare Diseases (CIBERER-ISCIII) (B.P.-D.), Hospital Sant Joan de Déu, Universitat de Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000002585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862244PMC
May 2016

Metaphyseal dysplasia associated with chronic facial nerve palsy.

Childs Nerv Syst 2016 Jul 4;32(7):1333-6. Epub 2016 Feb 4.

Pediatric Neurology Department, Chelsea and Westminister Hospital, 369 Fulham Road, London, SW109NH, UK.

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http://dx.doi.org/10.1007/s00381-016-3021-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947474PMC
July 2016

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.

Eur J Paediatr Neurol 2016 May 11;20(3):483-8. Epub 2016 Jan 11.

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, 369 Fulham Road, London, SW10 9NH, United Kingdom; The Portland Hospital for Women and Children, 205-209 Great Portland St, London, W1W 5AH, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.12.016DOI Listing
May 2016

Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype.

Quant Imaging Med Surg 2015 Jun;5(3):476-9

1 Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK ; 2 BUPA Cromwell Hospital, London, UK ; 3 St Mary's Hospital, Imperial College NHS trust, London, UK ; 4 St George's Hospital, NHS Foundation Trust, London, UK ; 5 Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK ; 6 King's College Hospital, NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.3978/j.issn.2223-4292.2014.11.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426115PMC
June 2015

Zellweger syndrome and secondary mitochondrial myopathy.

Eur J Pediatr 2015 Apr 7;174(4):557-63. Epub 2014 Oct 7.

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK,

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http://dx.doi.org/10.1007/s00431-014-2431-2DOI Listing
April 2015

Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis.

J Child Neurol 2015 Apr 30;30(5):654-8. Epub 2014 Apr 30.

Department of Paediatric Neurology, Chelsea and Westminster Hospital NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1177/0883073814532546DOI Listing
April 2015

Chitayat-Hall syndrome: extending the clinical phenotype.

Clin Dysmorphol 2013 Oct;22(4):156-60

Departments of aPaediatric Neurology bGeneral Paediatrics cPaediatric Neuroradiology dNeonatal Medicine, Chelsea and Westminster Hospital, London eNorth West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Middlesex, UK.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000006DOI Listing
October 2013

Genitopatellar syndrome: a further case.

Clin Dysmorphol 2011 Jul;20(3):163-5

Department of General Paediatrics, Chelsea and Westminster Hospital, London, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328345a1ddDOI Listing
July 2011

The multiple phenotypes of arthrogryposis multiplex congenita with reference to the neurogenic variant.

Eur J Paediatr Neurol 2011 Jul 22;15(4):316-9. Epub 2011 Feb 22.

Institute of Child Health and Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1016/j.ejpn.2011.01.007DOI Listing
July 2011

Siblings of young people with Duchenne muscular dystrophy--a qualitative study of impact and coping.

Eur J Paediatr Neurol 2011 Jan 21;15(1):21-8. Epub 2010 Aug 21.

Institute of Neurology, University College London, UK.

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http://dx.doi.org/10.1016/j.ejpn.2010.07.006DOI Listing
January 2011

Sleep and well-being in young men with neuromuscular disorders receiving non-invasive ventilation and their carers.

Neuromuscul Disord 2010 Jul 16;20(7):458-63. Epub 2010 Jun 16.

Institute of Neurology, University College, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2010.05.011DOI Listing
July 2010

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials.

Neuromuscul Disord 2010 May 14;20(5):295-301. Epub 2010 Apr 14.

The Dubowitz Neuromuscular Centre, Institute of Child Health, University College, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2010.03.007DOI Listing
May 2010

Psychosocial adjustment in siblings of young people with Duchenne muscular dystrophy.

Eur J Paediatr Neurol 2010 Jul 22;14(4):340-8. Epub 2009 Oct 22.

Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1016/j.ejpn.2009.09.011DOI Listing
July 2010

Feeding problems and malnutrition in spinal muscular atrophy type II.

Neuromuscul Disord 2008 May 16;18(5):389-93. Epub 2008 Apr 16.

Department of Child Neurology, Policlinico Gemelli, Largo Gemelli, Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2008.02.008DOI Listing
May 2008

Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery?

Neuromuscul Disord 2007 Mar 15;17(3):227-30. Epub 2007 Feb 15.

Department of Physiotherapy, Hammersmith Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2006.12.002DOI Listing
March 2007

Feeding problems and weight gain in Duchenne muscular dystrophy.

Eur J Paediatr Neurol 2006 Sep-Nov;10(5-6):231-6. Epub 2006 Oct 10.

Department of Child Neurology, Policlinico Gemelli, Largo Gemelli 00168, Roma, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2006.08.008DOI Listing
February 2007

Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study.

J Cardiovasc Magn Reson 2006 ;8(5):723-30

Cardiovascular Magnetic Resonance Unit, Royal Brompton Hospital, and NHLI, Imperial College, London, UK.

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http://dx.doi.org/10.1080/10976640600723862DOI Listing
February 2007

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.

Neuromuscul Disord 2005 Apr;15(4):303-10

Department of Paediatrics, Dubowitz Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12 OHN, UK.

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http://dx.doi.org/10.1016/j.nmd.2005.01.004DOI Listing
April 2005

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.

Neuromuscul Disord 2005 Feb 26;15(2):164-71. Epub 2004 Nov 26.

Department of Paediatrics and Neonatal Medicine, Dubowitz Neuromuscular Centre, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.

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http://dx.doi.org/10.1016/j.nmd.2004.10.008DOI Listing
February 2005

Can clinical signs identify newborns with neuromuscular disorders?

J Pediatr 2005 Jan;146(1):73-9

Department of Paediatrics, Imperial College, Hammersmith Hospital, London, UK.

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http://dx.doi.org/10.1016/j.jpeds.2004.08.047DOI Listing
January 2005

An effective, low-dosage, intermittent schedule of prednisolone in the long-term treatment of early cases of Duchenne dystrophy.

Neuromuscul Disord 2002 Oct;12 Suppl 1:S169-74

Department of Paediatrics, Dubowitz Neuromuscular Centre, ICSM Hammersmith Campus, London W12 ONN, UK.

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http://dx.doi.org/10.1016/s0960-8966(02)00097-4DOI Listing
October 2002