Manju Kurian

Manju Kurian

UNVERIFIED PROFILE

Are you Manju Kurian?   Register this Author

Register author
Manju Kurian

Manju Kurian

Publications by authors named "Manju Kurian"

Are you Manju Kurian?   Register this Author

88Publications

3828Reads

50Profile Views

Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.

Mov Disord 2019 07 29;34(7):1079-1080. Epub 2019 Apr 29.

Neurology Department, The Children's Hospital at Westmead Clinical School, University of Sydney, New South Wales, Australia.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/mds.27708
Publisher Site
http://dx.doi.org/10.1002/mds.27708DOI Listing
July 2019

Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.

J Inherit Metab Dis 2018 11 13;41(6):1077-1091. Epub 2018 Jun 13.

Molecular Neurosciences, Developmental Neuroscience, UCL Institute of Child Health, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-018-0205-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326993PMC
November 2018

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

J Inherit Metab Dis 2018 11 30;41(6):1275-1283. Epub 2018 Aug 30.

Molecular Neurosciences, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London, WC1N 1EH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-018-0227-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326959PMC
November 2018

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

J Inherit Metab Dis 2018 Nov;41(6):1299-1301

Molecular Neurosciences, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London, WC1N 1EH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-018-0247-3DOI Listing
November 2018

Neurodegeneration with brain iron accumulation.

Handb Clin Neurol 2018 ;147:293-305

Departments of Molecular and Medical Genetics and Neurology, Oregon Health and Science University, Portland, OR, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-444-63233-3.00019-1DOI Listing
July 2018

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Am J Hum Genet 2018 07 28;103(1):144-153. Epub 2018 Jun 28.

NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037130PMC
July 2018

Phenotypes, genotypes, and the management of paroxysmal movement disorders.

Dev Med Child Neurol 2018 06 30;60(6):559-565. Epub 2018 Mar 30.

Department of Molecular Neuroscience, Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.13744DOI Listing
June 2018

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.

Am J Med Genet A 2018 05;176(5):1049-1054

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38656DOI Listing
May 2018

Beta-propeller-associated neurodegeneration can present with dominant or isolated parkinsonism.

Mov Disord 2018 04 28;33(4):654-656. Epub 2018 Feb 28.

Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.27294DOI Listing
April 2018

Chromium-zinc ferrite nanocomposites for the catalytic abatement of toxic environmental pollutants under ambient conditions.

J Hazard Mater 2018 Feb 27;344:925-941. Epub 2017 Nov 27.

Research Centre in Chemistry, Mar Athanasius College, Kothamangalam 686 666, India. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jhazmat.2017.11.045DOI Listing
February 2018

Clinical and molecular characterization of -related severe early-onset epilepsy.

Neurology 2018 01 1;90(1):e55-e66. Epub 2017 Dec 1.

From Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000004762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754647PMC
January 2018

Low CSF 5-HIAA in Myoclonus Dystonia.

Mov Disord 2017 11 26;32(11):1647-1649. Epub 2017 Sep 26.

Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.27117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796435PMC
November 2017

Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.

Nat Protoc 2017 Nov 19;12(11):2359-2375. Epub 2017 Oct 19.

Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nprot.2017.103DOI Listing
November 2017

Not all epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Neurology 2017 Sep 9;89(10):1035-1042. Epub 2017 Aug 9.

From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000004331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589790PMC
September 2017

encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Neurol Genet 2017 Apr 21;3(2):e143. Epub 2017 Mar 21.

Department of Paediatrics, Child Neurology and Psychiatry (F.R.D., S.G., V.L.), Sapienza University of Rome, Italy; Molecular Neurosciences, Developmental Neurosciences Programme (F.R.D., J.N., A.M., M.A.K.), University College London Institute of Child Health, UK; Department of Neurology (F.R.D., J.N., A.M., M.A.K.), Great Ormond Street Hospital for Children, London, UK; GENOMA Group (M.R.), Molecular Genetics Laboratory, Rome, Italy; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (M.M., E.P., C.B., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence, Italy; Department of Haematology (K.J.C.), University of Cambridge, NHS Blood and Transplant Centre, UK; NIHR Bioresource Rare Diseases (K.J.C., F.L.R.), University of Cambridge, UK; Department of Neurology (N.M.), Westmead Hospital, Sydney, Australia; Childrens Hospital Oxford (T.M.), John Radcliffe Hospital, UK; Institute for Neuroscience and Muscle Research (R.C.D., S.S.M., U.S.), the Children's Hospital at Westmead, University of Sydney, Australia; Department of Medical Genetics (F.L.R.), Cambridge Institute for Medical Research, University of Cambridge, UK; Department of Neurology (R.S.), University Hospitals Leicester NHS Trust, UK; Department of Paediatric Neurology (G.V.), Leeds Teaching Hospitals NHS Trust, UK; Section of Neurosciences (E.M.V.), Department of Medicine and Surgery, University of Salerno, Italy; and Neurogenetics Unit (E.M.V.), IRCCS Fondazione Santa Lucia, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362187PMC
April 2017

Mutations in a Sibship with Multifocal Polymyoclonus.

Tremor Other Hyperkinet Mov (N Y) 2017 13;7:452. Epub 2017 Apr 13.

Neurosciences Unit, University College London, Institute of Child Health, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7916/D8Q52VBVDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395678PMC
April 2017

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).

Mol Genet Metab 2017 03 27;120(3):278-287. Epub 2016 Dec 27.

Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, USA; Department of Neurology, Oregon Health & Science University, Portland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.11.004DOI Listing
March 2017

Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological Disorders.

Front Mol Neurosci 2016 6;9:78. Epub 2016 Sep 6.

Neurogenetics Group, Molecular Neurosciences, UCL Institute of Child Health,University College LondonLondon, UK; Department of Neurology, Great Ormond Street HospitalLondon, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fnmol.2016.00078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5012159PMC
September 2016

Movement Disorders Presenting in Childhood.

Continuum (Minneap Minn) 2016 Aug;22(4 Movement Disorders):1159-85

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/CON.0000000000000367DOI Listing
August 2016

The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.

Biochim Biophys Acta 2016 Jun 17;1864(6):676-682. Epub 2016 Mar 17.

Department of Neurosciences, Biomedicine and Movement, University of Verona, Verona, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbapap.2016.03.011DOI Listing
June 2016

Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms.

Annu Rev Genomics Hum Genet 2015 8;16:257-79. Epub 2015 May 8.

Molecular Neurosciences, Developmental Neurosciences Programme, Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; email: ,

View Article

Download full-text PDF

Source
http://www.annualreviews.org/doi/10.1146/annurev-genom-09031
Publisher Site
http://dx.doi.org/10.1146/annurev-genom-090314-025011DOI Listing
May 2016

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

J Med Genet 2016 05 18;53(5):310-7. Epub 2016 Mar 18.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK Genetics and Genomic Medicine Unit, University College London Institute of Child Health, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2015-103263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862068PMC
May 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.

View Article

Download full-text PDF

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

RARS2 mutations in a sibship with infantile spasms.

Epilepsia 2016 May 8;57(5):e97-e102. Epub 2016 Apr 8.

Molecular Neurosciences, Developmental Neurosciences Programme, UCL-Institute of Child Health, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.13358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864753PMC
May 2016

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

Dev Med Child Neurol 2016 Apr 9;58(4):416-20. Epub 2015 Dec 9.

Department of Neurology, Great Ormond Street Hospital, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.12976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864756PMC
April 2016

The genetic landscape of the epileptic encephalopathies of infancy and childhood.

Lancet Neurol 2016 Mar 17;15(3):304-16. Epub 2015 Nov 17.

Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, VIC, Australia; Florey Institute of Neurosciences and Mental Health, Melbourne, VIC, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://www.thelancet.com/pdfs/journals/laneur/PIIS1474-4422(
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S147444221500250
Publisher Site
http://dx.doi.org/10.1016/S1474-4422(15)00250-1DOI Listing
March 2016

The clinical syndrome of dystonia with anarthria/aphonia.

Parkinsonism Relat Disord 2016 Mar 28;24:20-7. Epub 2016 Jan 28.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2016.01.022DOI Listing
March 2016

Early Ataxia and Subsequent Parkinsonism: PLA2G6 Mutations Cause a Continuum Rather Than Three Discrete Phenotypes.

Mov Disord Clin Pract 2017 Jan-Feb;4(1):125-128. Epub 2016 Mar 31.

Department of Medicine and Surgery Neuroscience section Center for Neurodegenerative diseases (CEMAND) University of Salerno Salerno Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mdc3.12319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407056PMC
March 2016

Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

Am J Med Genet A 2015 Dec 14;167A(12):3096-102. Epub 2015 Sep 14.

Department of Neurology, University of Rochester Medical Center, Rochester, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715619PMC
December 2015

The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Brain 2015 Dec 23;138(Pt 12):3567-80. Epub 2015 Nov 23.

1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK 2 Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK 4 Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awv310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655345PMC
December 2015

Monoamine neurotransmitter disorders--clinical advances and future perspectives.

Nat Rev Neurol 2015 Oct 22;11(10):567-84. Epub 2015 Sep 22.

Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/nrneurol.2015.172
Publisher Site
http://dx.doi.org/10.1038/nrneurol.2015.172DOI Listing
October 2015

Benign Hereditary Chorea: An Update.

Tremor Other Hyperkinet Mov (N Y) 2015 14;5:314. Epub 2015 Jul 14.

Developmental Neurosciences Programme, UCL-Institute of Child Health, London, UK ; Department of Neurology, Great Ormond Street Hospital, London, UK.

View Article

Download full-text PDF

Source
https://academiccommons.columbia.edu/download/fedora_content
Web Search
http://www.tremorjournal.org/index.php/tremor/article/view/3
Publisher Site
http://dx.doi.org/10.7916/D8RJ4HM5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502401PMC
July 2015

Mutation in Atypical Rett Syndrome with Brain Iron Accumulation.

Mov Disord Clin Pract 2015 Mar 24;2(1):81-83. Epub 2015 Feb 24.

Department of Neurology Essex Center for Neurological Sciences Queen's Hospital Romford Essex United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mdc3.12120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353382PMC
March 2015

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

J Neurol 2014 Dec 11;261(12):2296-304. Epub 2014 Sep 11.

MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-014-7488-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495322PMC
December 2014

Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum.

Dev Med Child Neurol 2014 Nov 29;56(11):1124-8. Epub 2014 Mar 29.

Neurosciences Unit, Developmental Neurosciences, University College London, Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.12450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230412PMC
November 2014

Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.

Dev Med Child Neurol 2014 Jul 31;56(7):642-8. Epub 2013 Oct 31.

MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine & Clinical Neurosciences, Cardiff University, Cardiff, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.12323DOI Listing
July 2014

Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.

Int Rev Neurobiol 2013 ;110:49-71

Neurosciences Unit, UCL-Institute of Child Health, London, United Kingdom; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-12-410502-7.00003-XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6059649PMC
July 2014

Genetic disorders of thyroid metabolism and brain development.

Dev Med Child Neurol 2014 Jul 26;56(7):627-34. Epub 2014 Mar 26.

Developmental Neurosciences, UCL-Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.12445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231219PMC
July 2014

What is new for monoamine neurotransmitter disorders?

J Inherit Metab Dis 2014 Jul 3;37(4):619-26. Epub 2014 Apr 3.

Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s10545-014-9697
Web Search
http://link.springer.com/10.1007/s10545-014-9697-4
Publisher Site
http://dx.doi.org/10.1007/s10545-014-9697-4DOI Listing
July 2014

Infantile neuroaxonal dystrophy caused by uniparental disomy.

Dev Med Child Neurol 2014 Apr 15;56(4):386-9. Epub 2013 Nov 15.

Department of Clinical Genetics, Leicester Royal Infirmary, University Hospitals Leicester, UK; Department of Cancer Studies & Molecular Medicine, University of Leicester, Leicester, UK; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.12327DOI Listing
April 2014

What is the role of dopamine in childhood neurological disorders?

Authors:
Manju A Kurian

Dev Med Child Neurol 2013 Jun 17;55(6):493-4. Epub 2013 Mar 17.

Neurosciences Unit, UCL-Institute of Child Health, London, UK.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/dmcn.12130
Publisher Site
http://dx.doi.org/10.1111/dmcn.12130DOI Listing
June 2013

The clinical utility of chromosomal microarray in childhood neurological disorders.

Authors:
Manju A Kurian

Dev Med Child Neurol 2012 Jul 19;54(7):582-3. Epub 2012 Apr 19.

ICH-Neurosciences Unit, UCL, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8749.2012.04304.xDOI Listing
July 2012

The monoamine neurotransmitter disorders: an expanding range of neurological syndromes.

Lancet Neurol 2011 Aug;10(8):721-33

Neurosciences Unit, UCL-Institute of Child Health, London UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1474-4422(11)70141-7DOI Listing
August 2011

Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).

Dev Med Child Neurol 2011 May;53(5):394-404

Neurosciences Unit, Institute of Child Health (University College London) and Great Ormond Street Hospital, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8749.2011.03955.xDOI Listing
May 2011

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.

Brain 2010 Oct 9;133(10):2964-70. Epub 2010 Sep 9.

Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awq238DOI Listing
October 2010

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.

Mol Genet Metab 2010 Mar 16;99(3):325-8. Epub 2009 Nov 16.

Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2009.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852677PMC
March 2010