Shamima Rahman

Shamima Rahman

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Disorders of riboflavin metabolism.

J Inherit Metab Dis 2019 Jul 11;42(4):608-619. Epub 2019 Mar 11.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://doi.wiley.com/10.1002/jimd.12058
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http://dx.doi.org/10.1002/jimd.12058DOI Listing
July 2019

Cerebral folate deficiency: Analytical tests and differential diagnosis.

J Inherit Metab Dis 2019 Jul 2;42(4):655-672. Epub 2019 May 2.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/jimd.12092DOI Listing
July 2019

B Vitamins: Small molecules, big effects.

J Inherit Metab Dis 2019 Jul 19;42(4):579-580. Epub 2019 Jun 19.

Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Zürich, Switzerland.

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http://doi.wiley.com/10.1002/jimd.12127
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http://dx.doi.org/10.1002/jimd.12127DOI Listing
July 2019

Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases.

Front Genet 2019 1;10:19. Epub 2019 Feb 1.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

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https://www.frontiersin.org/article/10.3389/fgene.2019.00019
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http://dx.doi.org/10.3389/fgene.2019.00019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367241PMC
February 2019

POLG-related disorders and their neurological manifestations.

Nat Rev Neurol 2019 Jan;15(1):40-52

Mitochondrial DNA Replication Group, Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Durham, NC, USA.

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http://www.nature.com/articles/s41582-018-0101-0
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http://dx.doi.org/10.1038/s41582-018-0101-0DOI Listing
January 2019

The utility of phenomics in diagnosis of inherited metabolic disorders.

Clin Med (Lond) 2019 Jan;19(1):30-36

UCL Great Ormond Street Institute of Child Health, London, UK

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http://dx.doi.org/10.7861/clinmedicine.19-1-30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399633PMC
January 2019

Mitochondrial diseases and status epilepticus.

Authors:
Shamima Rahman

Epilepsia 2018 10 29;59 Suppl 2:70-77. Epub 2018 Aug 29.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1111/epi.14485DOI Listing
October 2018

Natural history of mitochondrial disorders: a systematic review.

Essays Biochem 2018 07 20;62(3):423-442. Epub 2018 Jul 20.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health

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http://essays.biochemistry.org/lookup/doi/10.1042/EBC2017010
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http://dx.doi.org/10.1042/EBC20170108DOI Listing
July 2018

Mitochondrial medicine in the omics era.

Lancet 2018 06 18;391(10139):2560-2574. Epub 2018 Jun 18.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK; Metabolic Unit, Great Ormond Street Hospital NHS Foundation Trust, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01406736183072
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http://dx.doi.org/10.1016/S0140-6736(18)30727-XDOI Listing
June 2018

Recognition, investigation and management of mitochondrial disease.

Arch Dis Child 2017 11 24;102(11):1082-1090. Epub 2017 Jun 24.

Metabolic Unit,Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/archdischild-2016-311370DOI Listing
November 2017

The presence of anaemia negatively influences survival in patients with POLG disease.

J Inherit Metab Dis 2017 11 1;40(6):861-866. Epub 2017 Sep 1.

Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1007/s10545-017-0084-9DOI Listing
November 2017

Human COQ9 Rescues a Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome.

Front Physiol 2017 7;8:463. Epub 2017 Jul 7.

Department of Chemistry and Biochemistry and the Molecular Biology Institute, University of California, Los AngelesLos Angeles, CA, United States.

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http://journal.frontiersin.org/article/10.3389/fphys.2017.00
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http://dx.doi.org/10.3389/fphys.2017.00463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500610PMC
July 2017

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

J Inherit Metab Dis 2017 05 2;40(3):385-394. Epub 2017 Mar 2.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s10545-017-0025-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393281PMC
May 2017

Mitochondrial disease and endocrine dysfunction.

Nat Rev Endocrinol 2017 02 7;13(2):92-104. Epub 2016 Oct 7.

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1038/nrendo.2016.151DOI Listing
February 2017

Leigh map: A novel computational diagnostic resource for mitochondrial disease.

Ann Neurol 2017 01;81(1):9-16

Mitochondrial Research Group, Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.24835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5347854PMC
January 2017

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.

J Pediatr Gastroenterol Nutr 2016 12;63(6):592-597

*Liver Unit, Birmingham Children's Hospital †University of Birmingham ‡Department of Clinical IMD §Department of Radiology, Birmingham Children's Hospital, Birmingham ||Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust ¶Nuffield Department of Obstetrics and Gynaecology, University of Oxford #Wellcome Trust Centre for Mitochondrial Research and Highly Specialised Rare Mitochondrial Disease Service, Newcastle University **Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1097/MPG.0000000000001345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113754PMC
December 2016

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

Mitochondrion 2016 09 27;30:162-7. Epub 2016 Jul 27.

Institute for Neuroscience and Muscle Research and T.Y. Nelson Department of Neurology & Neurosurgery, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.mito.2016.07.014DOI Listing
September 2016

Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest.

J Inherit Metab Dis 2016 05 1;39(3):327-329. Epub 2016 Apr 1.

Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, and Metabolic Department, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1007/s10545-016-9931-3DOI Listing
May 2016

Leigh syndrome: One disorder, more than 75 monogenic causes.

Ann Neurol 2016 Feb 15;79(2):190-203. Epub 2015 Dec 15.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/ana.24551DOI Listing
February 2016

Extra-ocular muscle MRI in genetically-defined mitochondrial disease.

Eur Radiol 2016 Jan 21;26(1):130-7. Epub 2015 May 21.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00330-015-3801-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666274PMC
January 2016

Peer review fraud-it's not big and it's not clever.

J Inherit Metab Dis 2016 Jan 11;39(1):1-2. Epub 2015 Dec 11.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1007/s10545-015-9905-xDOI Listing
January 2016

Can folic acid have a role in mitochondrial disorders?

Drug Discov Today 2015 Nov 14;20(11):1349-54. Epub 2015 Jul 14.

Clinical Biochemistry Department, Hospital Sant Joan de Déu, Center for Biomedical Research in Rare Diseases, Barcelona, Spain; CIBERER-ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.drudis.2015.07.002DOI Listing
November 2015

Quo vadis: the re-definition of "inborn metabolic diseases".

J Inherit Metab Dis 2015 Nov 29;38(6):1003-6. Epub 2015 Sep 29.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1007/s10545-015-9893-xDOI Listing
November 2015

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.

Brain 2015 Oct 29;138(Pt 10):2834-46. Epub 2015 Jun 29.

1 Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, Guilford Street, London, UK 1 Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, Guilford Street, London, UK.

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http://dx.doi.org/10.1093/brain/awv182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808733PMC
October 2015

Oxidative phosphorylation gene expression falls at onset and throughout the development of meningococcal sepsis-induced multi-organ failure in children.

Intensive Care Med 2015 Aug 29;41(8):1489-90. Epub 2015 Apr 29.

Respiratory, Critical Care and Anaesthesia Unit, University College London-Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK,

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http://link.springer.com/10.1007/s00134-015-3817-y
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http://dx.doi.org/10.1007/s00134-015-3817-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502289PMC
August 2015

Pathophysiology of mitochondrial disease causing epilepsy and status epilepticus.

Authors:
Shamima Rahman

Epilepsy Behav 2015 Aug 7;49:71-5. Epub 2015 Jul 7.

Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK; Metabolic Unit, Great Ormond Street Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2015.05.003DOI Listing
August 2015

Emerging aspects of treatment in mitochondrial disorders.

Authors:
Shamima Rahman

J Inherit Metab Dis 2015 Jul 12;38(4):641-53. Epub 2015 May 12.

Mitochondrial Research Group, Genetics and Genomic Medicine, Institute of Child Health, University College London and Metabolic Unit, Great Ormond Street Hospital, 30 Guilford Street, London, WC1N 1EH, UK,

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http://dx.doi.org/10.1007/s10545-015-9855-3DOI Listing
July 2015

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

J Inherit Metab Dis 2015 May 29;38(3):445-57. Epub 2014 Oct 29.

Genetic Medicine, Central Manchester University Hospitals NHS Foundation trust, St Mary's Hospital, 6th Floor, Oxford Road, Manchester, M 13 9WL, UK.

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http://dx.doi.org/10.1007/s10545-014-9778-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432108PMC
May 2015

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.

Kidney Int 2015 Mar 10;87(3):610-22. Epub 2014 Sep 10.

Medical Research Council Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College London Institute of Neurology, London, UK.

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http://dx.doi.org/10.1038/ki.2014.297DOI Listing
March 2015

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

J Inherit Metab Dis 2015 Mar 18;38(2):211-9. Epub 2015 Jan 18.

Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s10545-015-9813-0DOI Listing
March 2015

Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss.

Hum Mol Genet 2015 Feb 9;24(4):1036-44. Epub 2014 Oct 9.

Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK, Centre for Auditory Research, UCL Ear Institute, London WC1X 8EE, UK

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http://dx.doi.org/10.1093/hmg/ddu518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986548PMC
February 2015

The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells.

J Neurochem 2014 May 25;129(3):426-33. Epub 2014 Jan 25.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK; Chemical Pathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1111/jnc.12646DOI Listing
May 2014

Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.

Eur J Paediatr Neurol 2014 Mar 16;18(2):231-4. Epub 2013 Oct 16.

Neurology Department, Great Ormond Street Hospital for Children, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798130014
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http://dx.doi.org/10.1016/j.ejpn.2013.09.006DOI Listing
March 2014

Gentamicin, genetic variation and deafness in preterm children.

BMC Pediatr 2014 Mar 5;14:66. Epub 2014 Mar 5.

Genetics and Genomic Medicine, University College London Institute of Child Health and Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1186/1471-2431-14-66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984755PMC
March 2014

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

JAMA Neurol 2013 Dec;70(12):1556-61

Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, England13Department of Molecular Neuroscience, University College London Institute o.

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http://dx.doi.org/10.1001/jamaneurol.2013.3242DOI Listing
December 2013

Levels of 5-methyltetrahydrofolate and ascorbic acid in cerebrospinal fluid are correlated: implications for the accelerated degradation of folate by reactive oxygen species.

Neurochem Int 2013 Dec 15;63(8):750-5. Epub 2013 Oct 15.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK; Chemical Pathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1016/j.neuint.2013.10.002DOI Listing
December 2013

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

Hum Mutat 2013 Oct 12;34(10):1366-70. Epub 2013 Aug 12.

Department of Biochemistry, University of Saskatchewan, Saskatoon, Canada.

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http://dx.doi.org/10.1002/humu.22385DOI Listing
October 2013

Treatable Leigh-like encephalopathy presenting in adolescence.

BMJ Case Rep 2013 Oct 7;2013:200838. Epub 2013 Oct 7.

Mitochondrial Research Group, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/bcr-2013-200838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822156PMC
October 2013

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.

Am J Med Genet A 2013 Sep 5;161A(9):2334-8. Epub 2013 Aug 5.

Mitochondrial Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.36065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884767PMC
September 2013

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

J Neurol Neurosurg Psychiatry 2013 Aug 25;84(8):936-8. Epub 2013 Jan 25.

Wellcome Trust Centre for Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp-2012-303528
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http://dx.doi.org/10.1136/jnnp-2012-303528DOI Listing
August 2013

Gastrointestinal and hepatic manifestations of mitochondrial disorders.

Authors:
Shamima Rahman

J Inherit Metab Dis 2013 Jul 15;36(4):659-73. Epub 2013 May 15.

Mitochondrial Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s10545-013-9614-2DOI Listing
July 2013

189th ENMC international workshop complex I deficiency: diagnosis and treatment 20-22 April 2012, Naarden, The Netherlands.

Neuromuscul Disord 2013 Jun 11;23(6):506-15. Epub 2013 Apr 11.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.nmd.2013.03.004DOI Listing
June 2013

Mitochondrial disease--an important cause of end-stage renal failure.

Pediatr Nephrol 2013 Mar 12;28(3):357-61. Epub 2012 Dec 12.

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http://dx.doi.org/10.1007/s00467-012-2362-yDOI Listing
March 2013

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations.

J Neurol Neurosurg Psychiatry 2013 Jan 29;84(1):107-10. Epub 2012 Aug 29.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/jnnp-2012-303232DOI Listing
January 2013

Inborn errors of metabolism causing epilepsy.

Dev Med Child Neurol 2013 Jan 24;55(1):23-36. Epub 2012 Sep 24.

Clinical and Molecular Genetics and Neurosciences Units, University College London Institute of Child Health, London and Metabolic and Neurosciences Units, Great Ormond Street Hospital for Children NHS Trust, London, UK.

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http://doi.wiley.com/10.1111/j.1469-8749.2012.04406.x
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http://dx.doi.org/10.1111/j.1469-8749.2012.04406.xDOI Listing
January 2013

The combination of mitragynine and morphine prevents the development of morphine tolerance in mice.

Molecules 2013 Jan 4;18(1):666-81. Epub 2013 Jan 4.

Department of Human Anatomy, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400 UPM Serdang, Selangor, Malaysia.

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http://dx.doi.org/10.3390/molecules18010666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6270191PMC
January 2013

Complex I deficiency: clinical features, biochemistry and molecular genetics.

J Med Genet 2012 Sep;49(9):578-90

Mitochondrial Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2012-101159
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http://dx.doi.org/10.1136/jmedgenet-2012-101159DOI Listing
September 2012

Mitochondrial disease and epilepsy.

Authors:
Shamima Rahman

Dev Med Child Neurol 2012 May 28;54(5):397-406. Epub 2012 Jan 28.

Mitochondrial Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London, UK.

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http://doi.wiley.com/10.1111/j.1469-8749.2011.04214.x
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http://dx.doi.org/10.1111/j.1469-8749.2011.04214.xDOI Listing
May 2012

Plasma thiol status is altered in children with mitochondrial diseases.

Scand J Clin Lab Invest 2012 Apr 2;72(2):152-7. Epub 2012 Jan 2.

University of Helsinki, Hospital for Children and Adolescents, Helsinki, Finland.

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http://dx.doi.org/10.3109/00365513.2011.646299DOI Listing
April 2012

176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency.

Neuromuscul Disord 2012 Jan 1;22(1):76-86. Epub 2011 Jul 1.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.nmd.2011.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3222743PMC
January 2012

Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.

J Med Genet 2011 Oct;48(10):691-7

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2011-100340
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http://dx.doi.org/10.1136/jmedgenet-2011-100340DOI Listing
October 2011

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.

J Med Genet 2011 Sep 4;48(9):610-7. Epub 2011 Mar 4.

1MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/jmg.2010.088328DOI Listing
September 2011

Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease.

Eur J Heart Fail 2010 Feb;12(2):114-21

The Heart Hospital, University College London, 16-18 Westmoreland Street, London W1G 8PH, UK.

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http://doi.wiley.com/10.1093/eurjhf/hfp186
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http://dx.doi.org/10.1093/eurjhf/hfp186DOI Listing
February 2010