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Dr Shamima Rahman

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Personal Profile

Name: Shamima Rahman Email: shamima.rahman@ucl.ac.uk
Title: Dr Tel: 020 7905 2608
Department: ICH - Clinical & Molecular Genetics Fax: 020 7404 6191
Position: Reader in Paediatric Metabolic Medicine Address: UCL Institute of Child Health, 30 Guilford Street, London, WC1N 1EH
Research Domain: Basic Life Sciences, Genetics (Frontier Disciplines), Neuroscience, Reproduction & Development Web Page:  

Profile

Research Description

My Mitochondrial Research Group at the UCL Institute of Child Health is currently active in the following research areas:
Identification of novel nuclear genes causing mitochondrial disease
Using a combined homozygosity mapping, whole exome sequencing and integrative genomics approach we have identified a number of nuclear genes causing childhood-onset mitochondrial disorders, including genes involved in complex I function, biosynthesis of coenzyme Q10 and maintenance and expression of the mitochondrial genome. We are currently using exome sequence analysis to define the genetic basis of the following subgroups of mitochondrial disease:

  • isolated complex I deficiency
  • isolated complex IV deficiency
  • multiple respiratory chain deficiencies
  • children with a strong clinical, radiological or pathological suspicion of mitochondrial disease, but normal muscle respiratory chain enzyme activities

Genetic susceptibility to aminoglycoside-mediated ototoxicity

We demonstrated that 1 in 500 UK children carries a mitochondrial DNA mutation, m.1555A>G, that confers exquisite sensitivity to aminoglycoside-mediated ototoxicity. More recently we have shown that, in the absence of aminoglycoside exposure, normal hearing can be  maintained until at least 44 years in affected individuals. This work is part of an ongoing collaboration with Professor Maria Bitner-Glindzicz at ICH, and we are now investigating the burden of m.1555A>G-related deafness in survivors of extreme prematurity, the MitoGent study (with Professor Neil Marlow at UCLH), as well as investigating the molecular mechanisms underpinning deafness in affected individuals.

Small molecule treatment of mitochondrial disease

Current PhD projects in the Mitochondrial Research Group are investigating mechanisms and treatment of coenzyme Q10 deficiency (in collaboration with Dr Iain Hargreaves at the National Hospital for Neurology) and central folate deficiency (with Professor Simon Heales at Great Ormond Street Hospital). These are potentially exciting developments in an area of medicine where there are currently very few effective treatment options.

Current members of the Mitochondrial Research Group at ICH

Postdoctoral research associates

Dr Elisa Fassone

Dr Rojeen Shahni

Clinical research fellow

Dr Yehani Wedatilake

PhD students

Sophie-Beth Aylett

Marta Kanabus

Mary O'Sullivan


Research Activities

Biogenesis of mitochondrial respiratory chain complex I: relevance to paediatric neurological disease and pathology

Development of treatment strategies for mitochondrial disorders

Disorders of mitochondrial DNA maintenance

Genetic susceptibility to aminoglycoside ototoxicity

Identification of nuclear genes responsible for mitochondrial disorders

Mechanisms of central folate deficiency in mitochondrial disease

Molecular mechanisms of cisplatin resistance

Treatment of coenzyme Q10 deficiency

Education Description

I regularly lecture on the following UCL BSc and MSc courses:
BSc and MSc in Human Genetics

MSc in Clinical Paediatrics

MSc in Clinical Neurology


I have taught on the annual UCL Institute of Child Health Practical Neurology Study Days since 1997.

I am a member of the Education and Training Advisory Committee (ETAC) of the Society for Study of Inborn Errors of Metabolism (SSIEM); we have organised an annual two day international SSIEM Academy since 2008. This is a 5 year rolling programme which aims to train physicians and biochemists in areas of inborn metabolic disease.

I currently supervise 7 UCL PhD students including 3 clinical research fellows (one adult neurology, one adult metabolic medicine and one paediatric intensive care trainee).

UCL Collaborators

Prof Maria Bitner-Glindzicz; Prof Simon Heales; Dr Gyorgy Szabadkai; Dr Jan-Willem Taanman; Dr Rojeen Shahni

External Collaborators

Publications

    2013

    • Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, UK10K Consortium , Taanman JW, Hanna MG (2013). NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease.. Cell Rep, , - . doi:10.1016/j.celrep.2013.05.005
    • Yao Z, Jones AWE, Fassone E, Sweeney MG, Lebiedzinska M, Suski JM, Wieckowski MR, Tajeddine N, Hargreaves IP, Yasukawa T, Tufo G, Brenner C, Kroemer G, Rahman S, Szabadkai G (2013). PGC-1β mediates adaptive chemoresistance associated with mitochondrial DNA mutations. Oncogene, 32(20), 2592 - 2600.
    • Duberley KE, Abramov AY, Chalasani A, Heales SJ, Rahman S, Hargreaves IP (2013). Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment.. J Inherit Metab Dis, 36(1), 63 - 73. doi:10.1007/s10545-012-9511-0
    • Rahman S, Footitt EJ, Varadkar S, Clayton PT (2013). Inborn errors of metabolism causing epilepsy.. Dev Med Child Neurol, 55(1), 23 - 36. doi:10.1111/j.1469-8749.2012.04406.x
    • Pitceathly RDS, Tomlinson SE, Hargreaves I, Bhardwaj N, Holton JL, Morrow JM, Evans J, Smith C, Fratter C, Woodward CE, Sweeney MG, Rahman S, Hanna MG (2013). Distal myopathy with cachexia: An unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations. Journal of Neurology, Neurosurgery and Psychiatry, 84(1), 107 - 110.
    • Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R (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, , - . doi:10.1136/jnnp-2012-303528
    • Duberley KE, Hargreaves IP, Chaiwatanasirikul KA, Heales SJ, Land JM, Rahman S, Mills K, Eaton S (2013). Coenzyme Q10 quantification in muscle, fibroblasts and cerebrospinal fluid by liquid chromatography/tandem mass spectrometry using a novel deuterated internal standard.. Rapid Commun Mass Spectrom, 27(9), 924 - 930. doi:10.1002/rcm.6529
    • Rahman S, Thorburn DR (2013). 189th ENMC International workshop Complex I deficiency: Diagnosis and treatment 20-22 April 2012, Naarden, The Netherlands.. Neuromuscul Disord, 23(6), 506 - 515. doi:10.1016/j.nmd.2013.03.004
    • Rahman S, Hall AM (2013). Mitochondrial disease - An important cause of end-stage renal failure. Pediatric Nephrology, 28(3), 357 - 361.
    • Rahman S (2013). Gastrointestinal and hepatic manifestations of mitochondrial disorders.. J Inherit Metab Dis, , - . doi:10.1007/s10545-013-9614-2
    • Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Carver J, Diot A, Macleod L, Hargreaves I, Al-Hussaini A, Faqeih E, Asery A, Al Balwi M, Eyaid W, Al-Sunaid A, Kelly D, van Mourik I, Ball S, Jarvis J, Mulay A, Hadzic N, Samyn M, Baker A, Rahman S, Stewart H, Morris AA, Seller A, Fratter C, Taylor RW, Poulton J (2013). Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.. Eur J Hum Genet, , - . doi:10.1038/ejhg.2013.112

    2012

    • Fassone E, Rahman S (2012). Complex I deficiency: clinical features, biochemistry and molecular genetics (vol 49, pg 578, 2012). JOURNAL OF MEDICAL GENETICS, 49(10), 668 - 668. doi:10.1136/jmedgenet-2012-101159corr1
    • Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, Kirk E, Viollet L, Rahman S, Bekri S, Peters H, McGill J, Glamuzina E, Farrar M, von der HM, Alexander IE, Kirmse B, Barth M, Laforet P, Benlian P, Munnich A, Jeanpierre M, Elpeleg O, Pines O, Delahodde A, de KY, de LP (2012). Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis, , - . doi:10.1007/s10545-012-9461-6
    • Rahman S, Clarke CF, Hirano M (2012). 176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency.. Neuromuscul Disord, 22(1), 76 - 86. doi:10.1016/j.nmd.2011.05.001
    • Glamuzina E, Brown R, Hogarth K, Saunders D, Russell-Eggitt I, Pitt M, de Sousa C, Rahman S, Brown G, Grunewald S (2012). Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.. J Inherit Metab Dis, 35(3), 459 - 467. doi:10.1007/s10545-011-9413-6
    • Pitceathly RDS, Rahman S, Hanna MG (2012). Single deletions in mitochondrial DNA - Molecular mechanisms and disease phenotypes in clinical practice. Neuromuscular Disorders, 22(7), 577 - 586.
    • Salmi H, Leonard JV, Rahman S, Lapatto R (2012). Plasma thiol status is altered in children with mitochondrial diseases. Scandinavian Journal of Clinical and Laboratory Investigation, 72(2), 152 - 157.
    • Rahman S, Hall AM (2012). Mitochondrial disease-an important cause of end-stage renal failure. Pediatric Nephrology, , 1 - 5.
    • Rahman S, Ecob R, Costello H, Sweeney MG, Duncan AJ, Pearce K, Strachan D, Forge A, Davis A, Bitner-Glindzicz M (2012). Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study.. BMJ Open, 2, e000411 - . doi:10.1136/bmjopen-2011-000411
    • Rahman S (2012). Mitochondrial disease and epilepsy.. Dev Med Child Neurol, 54(5), 397 - 406. doi:10.1111/j.1469-8749.2011.04214.x
    • Nesbitt V, Pitceathly R, Cockell S, Poulton J, Rahman S, Hanna M, Turnbull D, McFarland R (2012). The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study UK: from conceptualisation to utilisation.
    • Foley AR, Broomfield AA, Pandraud A, Johnson JO, Singleton AB, Hargreaves IP, Land JM, Grunewald S, Rahman S, Clayton P, Houlden H, Reilly MM, Muntoni F (2012). High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement.
    • Pitceathly RDS, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, Mudanohwo EE, Hargreaves I, Heales S, Holton JL, Houlden H, Lunn MP, Rahman S, Reilly MM, Hanna MG (2012). Genetic dysfunction of MT-ATP6 can cause axonal Charcot-Marie-Tooth disease.
    • Duncan AJ, Knight JA, Costello H, Conway GS, Rahman S (2012). POLG mutations and age at menopause. Hum.Reprod., , - . doi:10.1093/humrep/des130
    • Pitceathly RD, Rahman S, Hanna MG (2012). Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice.. Neuromuscul Disord, 22(7), 577 - 586. doi:10.1016/j.nmd.2012.03.009
    • Fassone E, Taanman JW, Sweeney MG, Woodward C, Hargreaves IP, Hanna MG, Taylor RW, Duncan AJ, Rahman S (2012). WHOLE EXOME SEQUENCING REVEALS THAT SUBUNIT MUTATIONS ARE PREVALENT IN COMPLEX I DEFICIENT LEIGH SYNDROME.
    • Wedatilake Y, Brown RM, McFarland R, Chakrapani A, Morris AA, Champion MP, Jardine PE, Dobbie A, Hanrahan D, Simmons L, Collins JE, Brown GK, Rahman S (2012). SURF1 DEFICIENCY: NATURAL HISTORY STUDY OF A UK COHORT.
    • Woodward C, Sweeney MG, Pitceathly RDS, Mudanohwo EE, Hughes D, Pittman A, Houlden H, Rahman S, Hanna MG (2012). Next Generation Sequencing as a potential diagnostic tool for mitochondrial DNA diseases.
    • Aylett S-B, Varadkar S, Fassone E, Pope S, Neergheen V, Hargreaves IP, Land JM, Heales SJ, Rahman S (2012). CEREBRAL FOLATE DEFICIENCY ASSOCIATED WITH A NOVEL HOMOZYGOUS NONSENSE MUTATION IN FOLR1.
    • Fassone E, Rahman S (2012). Complex I deficiency: clinical features, biochemistry and molecular genetics.. J Med Genet, 49(9), 578 - 590. doi:10.1136/jmedgenet-2012-101159
    • Duberley KEC, Hargreaves IP, Chaiwatanasirikul K, Heales SJ, Rahman S, Mills K, Eaton S (2012). DEVELOPMENT OF A MASS SPECTROMETRY METHOD (MS/MS) FOR QUANTIFICATION OF COENZYME Q10 IN CSF.
    • Illingworth MA, Boyd S, Varadkar S, Rahman S (2012). EPILEPTIC PHENOTYPES IN CHILDREN WITH PROVEN MITOCHONDRIAL DISEASE AND EPILEPSY.
    • Aylett S-B, Neergheen V, Eaton S, Land JM, Rahman S, Heales SJ (2012). FACTORS AFFECTING 5-METHYLTETRAHYDROFOLATE (5MTHF) STABILITY: IMPLICATIONS FOR CEREBRAL 5MTHF DEFICIENCY.
    • Pitceathly RDS, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, Mudanohwo EE, Hargreaves I, Heales S, Land J, Holton JL, Houlden H, Blake J, Champion M, Flinter F, Robb SA, Page R, Palace J, Crowe C, Longman C, Lunn MP, Rahman S, Reilly MM, Hanna MG (2012). Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. NEUROLOGY, 79(11), 1145 - 1154.
    • Pitceathly RDS, Tomlinson SE, Hargreaves I, Bhardwaj N, Holton JL, Evans J, Smith C, Fratter C, Woodward C, Sweeney MG, Hanna MG, Rahman S (2012). NOVEL DOMINANT POLG MUTATIONS CAUSE DISTAL MYOPATHY.

    2011

    • Evans J, Uusimaa J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Kelly D, Samyn M, Rahman S, Stewart H, Morris AMM, Seller A, Fratter C, Taylor RW, Poulton J (2011). Mitochondrial DNA depletion syndrome due to mutations in the MPV17 gene.
    • Nesbitt V, Pitceathly RDS, Rahman S, Poulton J, Turnbull DM, Hanna MG, McFarland R (2011). The MRC Centre for Translational Research in Neuromuscular Disease: Mitochondrial Disease Patient Cohort Study UK.
    • Nesbitt V, Pitceathly RDS, Rahman S, Hanna MG, McFarland R, Turnbull DM (2011). A3243G-more than just MELAS!.
    • Fassone E, Taanman JW, Duncan A, Rahman S (2011). 14 Mitochondrial cardiomyopathy caused by defective assembly of respiratory chain complex I.. doi:10.1136/heartjnl-2011-301156.14
    • Emmanuele V, Quinzii CM, Lopez LC, Rahman S, Lagier-Tourenne C, Horvath R, Naini AB, DiMauro S, Hirano M (2011). Clinical and Genetic Heterogeneity of CoQ(10) Deficiency: A Study of 75 Patients.
    • Taanman JW, Rahman S, Clayton P, Leonard JV, King R, Orth M (2011). Mitochondrial respiratory chain enzyme deficiency expressed during muscle development.
    • Ferdinandusse S, Waterham HR, Abulhoul L, Wanders RJA, Clayton PT, Leonard JV, Rahman S (2011). MULTIPLE RESPIRATORY CHAIN DEFECTS CAUSED BY 3-HYDROXY-ISOBUTYRYL COA HYDROLASE DEFICIENCY. JOURNAL OF INHERITED METABOLIC DISEASE, 34, S170 - S170.
    • Pitceathly RDS, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S (2011). KEARNS-SAYRE SYNDROME CAUSED BY MUTATIONS IN THE NUCLEAR RRM2B GENE. JOURNAL OF INHERITED METABOLIC DISEASE, 34, S158 - S158.
    • Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski M, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S (2011). Mutations in the novel chaperone FOXRED1 cause mitochondrial complex I deficiency.
    • Pitceathly RDS, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S (2011). Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. J MED GENET, 48(9), 610 - 617. doi:10.1136/jmg.2010.088328
    • Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S (2011). Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.. J Med Genet, 48(10), 691 - 697. doi:10.1136/jmedgenet-2011-100340
    • Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S (2011). BIOCHEMICAL AND MOLECULAR ANALYSIS IN MITOCHONDRIAL COMPLEX I DEFICIENT CHILDREN.
    • Duberley KEC, Abramov A, Heales SJR, Rahman S, Hargreaves IP (2011). ESTABLISHMENT OF A NEURONAL CELL MODEL OF COENZYME Q10 DEFICIENCY: IMPLICATIONS FOR THE PATHOGENESIS OF DEFECTS IN COENZYME Q10 BIOSYNTHESIS.
    • Rahman S (2011). Leigh syndrome. In Koene S, Smeitink J (Ed.), Mitchondrial medicine a clinical guideline (pp. 23 - 23). : Khondrion.
    • Pitceathly RD, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S (2011). Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.. J Med Genet, 48(9), 610 - 617. doi:10.1136/jmg.2010.088328
    • Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S (2011). FOXRED1 mutations are a novel cause of mitochondrial complex I deficiency.

    2010

    • Duberley KEC, Heales SJR, Rahman S, Allen G, Hargreaves IP (2010). ESTABLISHMENT OF A NEURONAL CELL MODEL OF COENZYME Q10 DEFICIENCY: IMPLICATIONS FOR PATHOGENESIS AND TREATMENT OF DISORDERS OF COENZYME Q10 BIOSYNTHESIS.
    • Rajakulendran S, Pitceathly RD, Warren J, Woodward C, Sweeney MG, Hargreaves I, Fratter C, Heales S, Taylor R, Holton JL, Rahman S, Hanna MG (2010). POG04 Multiple mitochondrial DNA deletions, cyclooxygenase-negative fibres and slowly progressive cognitive decline with psychiatric features. doi:10.1136/jnnp.2010.226340.126
    • Graves T, Phadke R, Holton JL, Hanna MG, Rahman S, Bhardwaj N (2010). PONM21 Electron microscopy does not add to the diagnostic accuracy of muscle biopsy for suspected mitochondrial disease. doi:10.1136/jnnp.2010.226340.194
    • Pitceathly R, McFarland R, Nesbitt V, Rahman S, Hanna MG, Turnbull DM (2010). PORT03 MRC mitochondrial cohort study: development of a UK database. doi:10.1136/jnnp.2010.226340.198
    • Pitceathly R, McFarland R, Nesbitt V, Rahman S, Hanna MG, Turnbull DM (2010). PORT03 MRC mitochondrial cohort study: development of a UK database.. doi:10.1136/jnnp.2010.226340.198
    • Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S (2010). FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.. Hum Mol Genet, 19(24), 4837 - 4847. doi:10.1093/hmg/ddq414
    • Pitceathly RDS, Holton JL, Hargreaves I, Heales S, Woodward C, Sweeney MG, Davis MB, Evans J, Smith C, Fratter C, Rahman S, Hanna MG (2010). Novel POLG mutation causing distal myopathy and cachexia.
    • Limongelli G, Tome-Esteban M, Dejthevaporn C, Rahman S, Hanna MG, Elliott PM (2010). Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease (vol 12, pg 114, 2010). EUROPEAN JOURNAL OF HEART FAILURE, 12(9), 1017 - 1017. doi:10.1093/eurjhf/hfq143
    • Brown RM, Glamuzina E, Grunewald S, Chong WK, Rahman S (2010). MITOCHONDRIAL ARGINYL-tRNA SYNTHETASE DEFICIENCY: ACUTE NEONATAL PRESENTATION WITH LACTIC ACIDOSIS.
    • Lopez LC, Quinzii CM, Area E, Naini A, Rahman S, Schuelke M, Salviati L, DiMauro S, Hirano M (2010). Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects. PLOS ONE, 5(7), - . doi:10.1371/journal.pone.0011897
    • Limongelli G, Rahman S, Pitceathly RDS, Hanna MG, Elliott PM (2010). Cardiac manifestations of mitochondrial disorders reply. EUR J HEART FAIL, 12(6), 637 - 638. doi:10.1093/eurjhf/hfq046
    • Quinzii CM, López LC, Gilkerson RW, Dorado B, Coku J, Naini AB, Lagier-Tourenne C, Schuelke M, Salviati L, Carrozzo R, Santorelli F, Rahman S, Tazir M, Koenig M, DiMauro S, Hirano M (2010). Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.. FASEB J, 24(10), 3733 - 3743. doi:10.1096/fj.09-152728
    • Quinzii CM, Lopez LC, Gilkerson RW, Dorado B, Coku J, Naini AB, Lagier-Tourenne C, Tazir M, Sckuelke M, Carrozzo R, Santorelli FM, Rahman S, Salviati L, Koenig M, Di Mauro S, Hirano M (2010). ROS Production, Oxidative Stress, and Cell Death Correlate with the Level of CoQ(10) in Fibroblast Models of CoQ(10) Deficiency.
    • Fassone E, Duncan AJ, Rahman S (2010). Complex I-deficient Leigh syndrome caused by a novel homozygous deletion in NDUFS4.
    • Pitceathly RDS, Nesbitt V, Rahman S, McFarland R, Hanna MG, Turnbull DM (2010). MRC mitochondrial cohort study: development of a UK database.
    • Pitceathly RDS, Woodward CE, Mudanohwo EE, Sweeney MG, Davis MB, Hanna MG, Rahman S (2010). Non-invasive diagnosis of single deletion disorders in children with suspected mitochondrial disease.
    • Bitner-Glindzicz M, Osei-Lah V, Colvin I, Sirimanna T, Lucas D, Mac Ardle B, Webb D, Shankar A, Kingston J, Jenkins L, Rahman S (2010). Aminoglycoside-induced deafness during treatment of acute leukaemia.. doi:10.1136/adc.2009.158220
    • Pitceathly R, Rahman S, Maritz C, Hanna MG, Lachmann R, Murphy E (2010). PONM13 Fatty acid oxidation disorders in adults: a potentially treatable cause of muscle disease. doi:10.1136/jnnp.2010.226340.186
    • Limongelli G, Tome-Esteban M, Dejthevaporn C, Rahman S, Hanna MG, Elliott PM (2010). Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease. Eur.J.Heart Fail., 12(2), 114 - 121.
    • Carecchio M, Rahman S, Hanna MG, Heales S, Hargreaves I, Land J, Bhatia K (2010). Parkinsonism, multiple lipomas and hearing impairment in a patient with reduced activity of mitochondrial respiratory chain complexes II plus III.
    • Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW (2010). The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. Neurology, 74(20), 1619 - 1626.
    • Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW (2010). The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. NEUROLOGY, 74(20), 1619 - 1626.

    2009

    • Rahman S, Duncan AJ, Bitner-Glindziez M, Meunier B, Costello H, Hargreaves IP, Lopez LC, Hirano M, Quinzii CM, Sadowski MI, Singleton A, Clayton PT (2009). A NEW GENETIC CAUSE OF PRIMARY COENZYME Q10 DEFICIENCY.
    • Sweeney M, Woodward CE, Mudanohwo EE, Rahman S, Hanna MG, Davis MB (2009). Urine epithelial cells as an alternative to muscle biopsies in the detection of mitochondrial DNA mutations.
    • Munot P, Pitt M, Hamilton S, Reilly MM, Rahman S, Poulton J, Manzur AY (2009). Early Onset Neuropathy of Mitochondrial Neurogastrointestinal Encephalomyopathy Mimicking Chronic Inflammatory Demyelinating Polyneuropathy in Childhood.
    • Rahman S, Poulton J (2009). Diagnosis of mitochondrial DNA depletion syndromes. Archives of Disease in Childhood, 94(1), 3 - 5.
    • Wolf NI, Rahman S, Schmitt B, Taanman JW, Duncan AJ, Harting I, Wohlrab G, Ebinger F, Rating D, Bast T (2009). Status epilepticus in children with Alpers\' disease caused by POLG1 mutations: EEG and MRI features. Epilepsia, 50(6), 1596 - 1607.
    • Tomlinson SE, Hanna MG, Holton JL, Rahman S (2009). A novel POLG1 mutation resulting in severe cachexia and muscle wasting.
    • Taanman JW, Rahman S, Pagnamenta AT, Morris AA, Bitner-Glindzicz M, Wolf NI, Leonard JV, Clayton PT, Schapira AH (2009). Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. Hum.Mutat., 30(2), 248 - 254.
    • Bitner-Glindzicz M, Pembrey M, Duncan A, Heron J, Ring SM, Hall A, Rahman S (2009). Prevalence of mitochondrial 1555A-->G mutation in European children. New England Journal of Medicine, 360(6), 640 - 642.
    • Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, Lopez LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S (2009). A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q(10) deficiency: a potentially treatable form of mitochondrial disease. American Journal of Human Genetics, 84(5), 558 - 566. doi:10.1016/j.ajhg.2009.03.018
    • Munot P, Pitt M, Hamilton S, Reilly MM, Rahman S, Poulton J, Manzur AY (2009). EARLY ONSET NEUROPATHY OF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY MIMICKING CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY IN CHILDHOOD.
    • Sweeney M, Woodward CE, Mudanohwo EE, Rahman S, Hanna MG, Davis MB (2009). Urine epithelial cells as an alternative to muscle biopsies in the detection of mitochondrial DNA mutations.
    • Rahman S, Hanna MG (2009). Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. , 80(9), 943 - 953.
    • Fratter C, Gorman G, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Lecky B, Chinnery PF, Turnbull DM, Horvath R, Taylor RW (2009). Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients. doi:10.1016/j.nmd.2009.06.062

    2008

    • Taylor R, Stewart JD, Tennant S, Powell H, Pyle A, Hudson G, McFarland R, Turnbull DM, Chinnery PF (2008). Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.
    • Duncan AJ, Sweeney MG, Stern E, Taylor R, Woodward C, Davis MB, Hanna MG, Rahman S (2008). Comparative human mitochondrial genome analysis using the affymetrix Mitochip v2 and conventional cycle sequencing. doi:10.1016/j.nmd.2008.06.110
    • Taylor R, Fratter C, Sweeney MG, Poulton J, Brown GK, Rahman S, McFarland R, Seller A, Davis MB, Hanna MG, Turnbull DM (2008). The NCG Service for Rare Mitochondrial Disorders of Adults and Children: a clinical and molecular genetics perspective.
    • Duncan AJ, Sweeney MG, Stern E, Taylor RW, Woodward C, Davis MB, Hanna MG, Rahman S (2008). Identification of novel and recurrent mitochondrial DNA mutations in paediatric onset mitochondrial disease using the mitochip resequencing array.
    • Heptinstall LE, Walter JH, Morris AAM, Jones SA, Rahman S, Besley GTN (2008). Mutation studies in patients with pyruvate carboxylase deficiency.
    • Rahman S (2008). Recent advances in mitochondrial medicine. In (Ed.), The Year in Neurology 2008 (pp. 77 - 92). : Clinical Publishing.
    • Woodward C, Sweeney MG, Duncan AJ, Stern E, Al-Dosary M, Taylor RW, Hanna MG, Davis MB, Rahman S (2008). Comparative human mitochondrial genome analysis using the Affymetrix MitoChip and conventional cycle sequencing.

    2007

    • Rahman S, Hargreaves IP (2007). Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology, 68(21), 1872 - 1873.
    • Bitner-Glindzicz M, Rahman S (2007). Ototoxicity caused by aminoglycosides. BMJ, 335(7624), 784 - 785.

    2006

    • Pagnamenta AT, Taanman JW, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, Bitner-Glindzicz M, Taylor RW, Laskowski A, Thorburn DR, Rahman S (2006). Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Human Reproduction, 21(10), 2467 - 2473. doi:10.1093/humrep/del076
    • Bitner-Glindzicz M, Osei-Lah V, Colvin I, Lucas D, MacArdle B, Sirimanna T, Webb D, Shankar A, Kingston J, Jenkins L, Rahman S (2006). Aminoglycoside-induced deafness: prevention by genetic testing is cost-effective.
    • Pagnamenta AT, Hargreaves IP, Duncan AJ, Taanman JW, Heales SJ, Land JM, Bitner-Glindzicz M, Leonard JV, Rahman S (2006). Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. Molecular Genetics and Metabolism, 89(3), 214 - 221. doi:10.1016/j.ymgme.2006.05.003

    2005

    • Schlingmann KP, Sassen MC, Weber S, Pechmann U, Kusch K, Pelken L, Lotan D, Syrrou M, Prebble JJ, Cole DEC, Metzger DL, Rahman S, Tajima T, Shu SG, Waldegger S, Seyberth HW, Konrad M (2005). Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary Hypocalcemia. Journal of the American Society of Nephrology, 16(10), 3061 - 3069.
    • Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubenstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A (2005). Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. The American Journal of Human Genetics, 76(6), 1081 - 1086. doi:10.1086/430843
    • Pulkes T, Liolitsa D, Eunson LH, Rose M, Nelson IP, Rahman S, Poulton J, Marchington DR, Landon DN, Debono AG, Morgan-Hughes JA, Hanna MG (2005). New phenotypic diversity associated with the mitochondrial tRNA (Ser(UCN)) gene mutation. Neuromuscular Disorders, 15(5), 364 - 371.

    2004

    • Tiranti V, D'Adamo P, Briem E, Ferrari F, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M (2004). Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. The American Journal of Human Genetics, 74(2), 239 - 252.
    • Taanman JW, Orth M, Williams S, Oluwole I, Rahman S, Clayton P, Leonard J (2004). Respiratory chain enzyme deficiency expressed during muscle development.
    • Pagnamenta A, Clayton P, Rahman S (2004). Is a novel nucleotide change in ND3 pathogenic?.
    • Zeviani M, Tiranti V, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Vollmer B, Garcia-Silva MT, D'Adamo P, Gasparini P, Garavaglia B (2004). Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

    2003

    • Liolitsa D, Rahman S, Benton S, Carr LJ, Hanna MG (2003). Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?. Annals of Neurology, 53(1), 128 - 132. doi:10.1002/ana.10435
    • Bhattacharya K, Rahman S, Leonard JV (2003). Diagnosis and Management of Mitochondrial Respiratory Chain Disorders. Current Paediatrics, 13, 536 - 542.
    • Head R, Brown R, Rahman S, Boubriak I, Brown G (2003). A novel splicing mutation in the SURF1 gene.
    • Wolf NI, Rahman S, Clayton PT, Zschocke J (2003). Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. European Journal of Pediatrics, 162(4), 279 - 280.
    • Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, Donald-Hull SP, Potts ED, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A, Mann RJ, Grice K, Guillet G, Lewis-Jones MS, McGrath H, Seukeran DC, Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IP (2003). Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum.Mol.Genet., 12(11), 1241 - 1252.
    • Thorburn DR, Rahman S (2003). Mitochondrial DNA-Associated Leigh Syndrome and NARP. In (Ed.), GeneReviews [Internet] (pp. - ). : Seattle (WA).
    • Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt RJ (2003). Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. Journal of Inherited Metabolic Disease, 26(6), 543 - 557.

    2002

    • Rahman S, Wolf N, Zschocke J, Clayton P (2002). Mitochondrial HMG-CoA synthase deficiency: Two further cases.
    • Rahman S, Taanman J, Harding B, Morris A (2002). Alpers syndrome with mitochondrial DNA depletion.
    • Rahman S, Taanman J, Harding B, Morris A (2002). Alpers syndrome with mitochondrial DNA depletion.
    • Hargreaves IP, Rahman S, Guthrie P, Taanman JW, Leonard JV, Land JM, Heales SJR (2002). Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion. Journal of Inherited Metabolic Disease, 25(1), 7 - 16.
    • Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomaki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA (2002). Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nature Genetics, 30(4), 406 - 410. doi:10.1038/ng849
    • Rahman S, Chong WK, Leonard JV, Brown RM, Brown GK (2002). MRI in Leigh syndrome with SURF1 gene mutation - Reply. ANNALS OF NEUROLOGY, 51(1), 139 - 139. doi:10.1002/ana.10030
    • Rahman S, Liolitsa D, Benton S, Carr L, Hanna M (2002). Two new mitochondrial ND5 gene mutations associate with MELAS without ragged red fibres: Is ND5 a hotspot for MELAS-causing mutations?.
    • (2002). Reply to: 'MRI in Leigh syndrome with SURF1 gene mutation'. Annals of Neurology, 51(1), 39 - 39.
    • Olpin S, Afifi A, Clark S, Bonham J, Dalton A, Leonard J, Land J, Rahman S, Morris A, Turnbull D, Pourfarzam M (2002). Mutation and biochemical analysis in carnitine palmitoyl transferase type II (CPTII) deficiency suggests complex genotype/phenotype interactions.

    2001

    • Hargreaves I, Rahman S, Guthrie P, Leonard J, Land J, Heales S (2001). The diagnostic value of complex II determination in the identification of patients with mitochondrial DNA depletion.
    • Rahman S, Poulton J, Marchington D, Suomalainen A (2001). Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. The American Journal of Human Genetics, 68(1), 238 - 240. doi:10.1086/316930
    • Rahman S, Hargreaves I, Clayton P, Heales S (2001). Neonatal presentation of coenzyme Q10 deficiency. The Journal of Pediatrics, 139(3), 456 - 458. doi:10.1067/mpd.2001.117575
    • Rahman S, Brown RM, Chong WK, Wilson CJ, Brown GK (2001). A SURF1 gene mutation presenting as isolated leukodystrophy. Annals of Neurology, 49(6), 797 - 800. doi:10.1002/ana.1060
    • Rahman S, Besley G, Carbone M, Robinson B, Clayton P (2001). Benign pyruvate carboxylase deficiency with normal development.

    2000

    • Rahman S, Brown R, Chong W, Wilson C, Brown G (2000). Leukodystrophy associated with a novel mutation in the SURF1 gene.
    • Heales S, Rahman S, Hargreaves I, Clayton P (2000). Diagnosis of neonatal ubiquinone deficiency; a biochemical approach.
    • Rahman S, Leonard JV (2000). Early onset of complete heart block in Pearson syndrome. Journal of Inherited Metabolic Disease, 23(7), 753 - 754.
    • Rahman S, Lake BD, Taanman JW, Hanna MG, Cooper JM, Shapira AHV, Leonard JV (2000). Cytochrome C oxidase immunohistochemistry: Clues for genetic mechanisms. Brain, 123(3), 591 - 600.
    • Wilson CJ, Wood NW, Leonard JV, Surtees R, Rahman S (2000). Mitochondrial DNA point mutation T9176C in Leigh syndrome. Journal of Child Neurology, 15(12), 830 - 833.

    1999

    • Rahman S, Taanman JW, Cooper JM, Nelson I, Hargreaves I, Meunier B, Hanna MG, Garcia JJ, Capaldi RA, Lake BD, Leonard JV, Schapira AHV (1999). A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. The American Journal of Human Genetics, 65(4), 1030 - 1039.
    • Rahman S, Schapira AHV (1999). Mitochondrial myopathies: clinical features, molecular genetics, investigation, and management. In Schapira AHV, Griggs RC (Ed.), Muscle diseases (pp. 117 - 223). : Butterworth Heinemann.

    1998

    • Hanna MG, Nelson IP, Rahman S, Lane RJM, Land J, Heales S, Cooper MJ, Schapira AHV, Morgan-Hughes JA, Wood NW (1998). Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. The American Journal of Human Genetics, 63(1), 29 - 36.
    • Rahman S, Emery A, Poulton J (1998). UK centres are not following the Royal College of Pathologists' recommendations for storage of Guthrie cards: a national policy is needed. J.Med.Genet., 35(3), 263 - .
    • Rahman S, Leonard J, Hanna M, Nelson I, Lake B, Schapira A (1998). A novel heteroplasmic point mutation in cytochrome c oxidase (COX) subunit II associated with mitochondrial myopathy and COX deficiency.

    1997

    • Rahman S, Standing S, Dalton RN, Pike MG (1997). Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. Dev.Med.Child Neurol., 39(12), 830 - 831.
    • Rahman S, Lake B, Taanman J, Cooper J, Hanna M, Leonard J, Schapira A (1997). Patterns of subunit loss in cytochrome oxidase deficiency.
    • Hanna MG, Nelson IP, Rahman S, Schapira AHV, MorganHughes JA, Wood NW (1997). Cytochrome c oxidase deficiency associated with a new stop codon mutation in mitochondrial DNA.
    • Rahman S, Leonard JV (1997). Mitochondrial disorders. Current Paediatrics, 7, 123 - 127.

    1996

    • Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR (1996). Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Annals of Neurology, 39(3), 343 - 351. doi:10.1002/ana.410390311

    1994

    • HEALES SJR, THOMPSON GN, MASSOUD AF, RAHMAN S, HALLIDAY D, LEONARD JV (1994). PRODUCTION AND DISPOSAL OF MEDIUM-CHAIN FATTY-ACIDS IN CHILDREN WITH MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY. J INHERIT METAB DIS, 17(1), 74 - 80.