Shamima Rahman

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Hanna MichaelUCL Institute of NeurologyDirección de correo verificada de ucl.ac.uk
Simon HealesDirección de correo verificada de ucl.ac.uk
Jan-Willem TaanmanUniversity College LondonDirección de correo verificada de ucl.ac.uk
david thorburnmurdoch children's research instituteDirección de correo verificada de mcri.edu.au
Joanna PoultonProfessor of Mitochondrial Genetics, University of Oxford, UKDirección de correo verificada de wrh.ox.ac.uk
Robert McFarlandNewcastle UniversityDirección de correo verificada de ncl.ac.uk
Robert W TaylorNewcastle UniversityDirección de correo verificada de ncl.ac.uk
Johannes ZschockeDirección de correo verificada de i-med.ac.at
A SchapiraUniversity College London, Royal FreeDirección de correo verificada de ucl.ac.uk
Michael I SadowskiDirector of Scientific Software, Synthace Ltd.Dirección de correo verificada de synthace.com
Laurence BindoffUnversity of Bergen & Haukeland University HospitalDirección de correo verificada de uib.no
Doug TurnbullProfessor of Neurology, Newcastle UniversityDirección de correo verificada de newcastle.ac.uk
John ChristodoulouMurdoch Children's Research InstituteDirección de correo verificada de mcri.edu.au
Patrick F ChinneryUniversity of CambridgeDirección de correo verificada de medschl.cam.ac.uk
Thomas JacquesUCL Great Ormond Street Institute of Child HealthDirección de correo verificada de ucl.ac.uk
Omar HikmatUniversity of Bergen and Paediatric department Haukeland University HospitalDirección de correo verificada de uib.no
Nandaki KeshavanClinical Research Training Fellow, University College LondonDirección de correo verificada de ucl.ac.uk
Catarina QuinziiColumbia University Medical CenterDirección de correo verificada de columbia.edu
Henry HouldenProf NeurogeneticsDirección de correo verificada de ucl.ac.uk
Claus KlingenbergUniversity Hospital of North NorwayDirección de correo verificada de unn.no

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Shamima Rahman

Professor of Paediatric Metabolic Medicine, UCL

Dirección de correo verificada de ucl.ac.uk - Página principal

mitochondrial diseases inborn errors of metabolism paediatrics genetics


Título Ordenar por citas Ordenar por año Ordenar por título	Citado por Citado por	Año
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer IPM Tomlinson, NA Alam, AJ Rowan, E Barclay, EEM Jaeger, D Kelsell, ... Nature genetics 30 (4), 406, 2002	1781	2002
Leigh syndrome: clinical features and biochemical and DNA abnormalities S Rahman, RB Blok, HHM Dahl, DM Danks, DM Kirby, CW Chow, ... Annals of Neurology: Official Journal of the American Neurological …, 1996	951	1996
Leigh syndrome: one disorder, more than 75 monogenic causes NJ Lake, AG Compton, S Rahman, DR Thorburn Annals of neurology 79 (2), 190-203, 2016	564	2016
Inborn metabolic diseases JM Saudubray Springer, 2012	458	2012
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion O Elpeleg, C Miller, E Hershkovitz, M Bitner-Glindzicz, ... The American Journal of Human Genetics 76 (6), 1081-1086, 2005	383	2005
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate … NA Alam, AJ Rowan, NC Wortham, PJ Pollard, M Mitchell, JP Tyrer, ... Human molecular genetics 12 (11), 1241-1252, 2003	382	2003
Complex I deficiency: clinical features, biochemistry and molecular genetics E Fassone, S Rahman Journal of medical genetics 49 (9), 578-590, 2012	367	2012
POLG-related disorders and their neurological manifestations S Rahman, WC Copeland Nature Reviews Neurology 15 (1), 40-52, 2019	363	2019
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society S Parikh, A Goldstein, A Karaa, MK Koenig, I Anselm, C Brunel-Guitton, ... Genetics in Medicine 19 (12), 1380-1397, 2017	308	2017
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m. 3243A> G mutation—implications for diagnosis and management V Nesbitt, RDS Pitceathly, DM Turnbull, RW Taylor, MG Sweeney, ... Journal of Neurology, Neurosurgery & Psychiatry 84 (8), 936-938, 2013	286	2013
Decrease of 3243 A→ G mtDNA mutation from blood in MELAS syndrome: a longitudinal study S Rahman, J Poulton, D Marchington, A Suomalainen The American Journal of Human Genetics 68 (1), 238-240, 2001	286	2001
Mitochondrial medicine in the omics era J Rahman, S Rahman The Lancet 391 (10139), 2560-2574, 2018	276	2018
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease AJ Duncan, M Bitner-Glindzicz, B Meunier, H Costello, IP Hargreaves, ... The American Journal of Human Genetics 84 (5), 558-566, 2009	254	2009
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein V Tiranti, P D’Adamo, E Briem, G Ferrari, R Mineri, E Lamantea, H Mandel, ... The American Journal of Human Genetics 74 (2), 239-252, 2004	242	2004
An international classification of inherited metabolic disorders (ICIMD) CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ... Journal of inherited metabolic disease 44 (1), 164-177, 2021	233	2021
Mitochondrial DNA-associated Leigh syndrome and NARP DR Thorburn, J Rahman, S Rahman	227	2017
Mitochondrial disease and endocrine dysfunction J Chow, J Rahman, JC Achermann, MT Dattani, S Rahman Nature Reviews Endocrinology 13 (2), 92-104, 2017	219	2017
Mitochondrial disease and epilepsy S Rahman Developmental Medicine & Child Neurology 54 (5), 397-406, 2012	215	2012
The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells SD Hughes, M Kanabus, G Anderson, IP Hargreaves, T Rutherford, ... Journal of neurochemistry 129 (3), 426-433, 2014	214	2014
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 AR Foley, MP Menezes, A Pandraud, MA Gonzalez, A Al-Odaib, ... Brain 137 (1), 44-56, 2014	195	2014

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