Shamima Rahman

Alıntı yapanlar

	Hepsi	2019 yılından bugüne
Alıntılar	16514	8220
h-endeksi	69	51
i10-endeksi	166	148

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Genel erişim

Tümünü görüntüle

102 makale

9 makale

genel erişime açık olanlar

genel erişime açık olmayanlar

Finansman sağlayan kuruluşun getirdiği zorunluluğa dayalı olarak

Katkıda bulunan yazarlar

Hanna MichaelUCL Institute of Neurologyucl.ac.uk üzerinde doğrulanmış e-posta adresine sahip
Simon Healesucl.ac.uk üzerinde doğrulanmış e-posta adresine sahip
david thorburnmurdoch children's research institutemcri.edu.au üzerinde doğrulanmış e-posta adresine sahip
Joanna PoultonProfessor of Mitochondrial Genetics, University of Oxford, UKwrh.ox.ac.uk üzerinde doğrulanmış e-posta adresine sahip
Robert McFarlandNewcastle Universityncl.ac.uk üzerinde doğrulanmış e-posta adresine sahip
Robert W TaylorNewcastle Universityncl.ac.uk üzerinde doğrulanmış e-posta adresine sahip
Johannes Zschockei-med.ac.at üzerinde doğrulanmış e-posta adresine sahip
A SchapiraUniversity College London, Royal Freeucl.ac.uk üzerinde doğrulanmış e-posta adresine sahip
Michael I SadowskiDirector of Scientific Software, Synthace Ltd.synthace.com üzerinde doğrulanmış e-posta adresine sahip
Doug TurnbullProfessor of Neurology, Newcastle Universitynewcastle.ac.uk üzerinde doğrulanmış e-posta adresine sahip
John ChristodoulouMurdoch Children's Research Institutemcri.edu.au üzerinde doğrulanmış e-posta adresine sahip
Laurence BindoffUnversity of Bergen & Haukeland University Hospitaluib.no üzerinde doğrulanmış e-posta adresine sahip
Patrick F ChinneryUniversity of Cambridgemedschl.cam.ac.uk üzerinde doğrulanmış e-posta adresine sahip
Thomas JacquesUCL Great Ormond Street Institute of Child Healthucl.ac.uk üzerinde doğrulanmış e-posta adresine sahip
Catarina QuinziiColumbia University Medical Centercolumbia.edu üzerinde doğrulanmış e-posta adresine sahip
Michio HiranoProfessor of Neurologycolumbia.edu üzerinde doğrulanmış e-posta adresine sahip
Grainne S GormanWellcome Trust Centre for Mitochondrial Research, ION, Newcastle Universityncl.ac.uk üzerinde doğrulanmış e-posta adresine sahip
Nandaki KeshavanClinical Research Training Fellow, University College Londonucl.ac.uk üzerinde doğrulanmış e-posta adresine sahip
Simon EatonUCL Great Ormond Street Institute of Child Healthucl.ac.uk üzerinde doğrulanmış e-posta adresine sahip
Claus KlingenbergUniversity Hospital of North Norwayunn.no üzerinde doğrulanmış e-posta adresine sahip

Takip et

Shamima Rahman

Professor of Paediatric Metabolic Medicine, UCL

ucl.ac.uk üzerinde doğrulanmış e-posta adresine sahip - Ana Sayfa

mitochondrial diseases inborn errors of metabolism paediatrics genetics


Başlık Alıntılara göre sırala Yıla göre sırala Başlığa göre sırala	Alıntı yapanlar Alıntı yapanlar	Yıl
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	1725	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	921	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	511	2016
Inborn metabolic diseases JM Saudubray, G Berghe, JH Walter Springer, 2012	421	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	378	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	372	2003
Complex I deficiency: clinical features, biochemistry and molecular genetics E Fassone, S Rahman Journal of medical genetics 49 (9), 578-590, 2012	342	2012
POLG-related disorders and their neurological manifestations S Rahman, WC Copeland Nature Reviews Neurology 15 (1), 40-52, 2019	289	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	282	2017
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	279	2001
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	267	2013
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	251	2009
Mitochondrial medicine in the omics era J Rahman, S Rahman The Lancet 391 (10139), 2560-2574, 2018	241	2018
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	237	2004
Mitochondrial disease and epilepsy S Rahman Developmental Medicine & Child Neurology 54 (5), 397-406, 2012	208	2012
Mitochondrial DNA-associated Leigh syndrome and NARP DR Thorburn, J Rahman, S Rahman	207	2017
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	197	2014
Mitochondrial disease and endocrine dysfunction J Chow, J Rahman, JC Achermann, MT Dattani, S Rahman Nature Reviews Endocrinology 13 (2), 92-104, 2017	190	2017
Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia KP Schlingmann, MC Sassen, S Weber, U Pechmann, K Kusch, L Pelken, ... Journal of the American Society of Nephrology 16 (10), 3061-3069, 2005	187	2005
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency CM Quinzii, LC López, RW Gilkerson, B Dorado, J Coku, AB Naini, ... The FASEB Journal 24 (10), 3733, 2010	186	2010

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