متابعة
Shamima Rahman
Shamima Rahman
Professor of Paediatric Metabolic Medicine, UCL
بريد إلكتروني تم التحقق منه على ucl.ac.uk - الصفحة الرئيسية
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
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
17862002
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
9491996
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
5712016
Inborn metabolic diseases‏
JM Saudubray, G Berghe, JH Walter‏
Springer, 2012‏
4632012
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
3832005
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
3802003
POLG-related disorders and their neurological manifestations‏
S Rahman, WC Copeland‏
Nature Reviews Neurology 15 (1), 40-52, 2019‏
3692019
Complex I deficiency: clinical features, biochemistry and molecular genetics‏
E Fassone, S Rahman‏
Journal of medical genetics 49 (9), 578-590, 2012‏
3652012
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), 1380-1380, 2017‏
3052017
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
2912013
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
2832001
Mitochondrial medicine in the omics era‏
J Rahman, S Rahman‏
The Lancet 391 (10139), 2560-2574, 2018‏
2802018
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
2532009
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
2422004
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
2322021
Mitochondrial DNA-associated Leigh syndrome and NARP‏
DR Thorburn, J Rahman, S Rahman‏
2282017
Mitochondrial disease and endocrine dysfunction‏
J Chow, J Rahman, JC Achermann, MT Dattani, S Rahman‏
Nature Reviews Endocrinology 13 (2), 92-104, 2017‏
2202017
Mitochondrial disease and epilepsy‏
S Rahman‏
Developmental Medicine & Child Neurology 54 (5), 397-406, 2012‏
2172012
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
2152014
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
1962005
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مقالات 1–20