S. Rahman

发表

The utility of phenomics in diagnosis of inherited metabolic disorders.

J. Rahman, S. Rahman, 2019, Clinical medicine.

Mitochondrial medicine in the omics era

J. Rahman, S. Rahman, 2018, The Lancet.

JIMD Reports, Volume 34

M. Baumgartner, M. Patterson, S. Rahman, 2017, JIMD Reports.

Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases

J. Rahman, S. Rahman, E. Maldonado, 2019, Front. Genet..

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

M. Baumgartner, M. Patterson, S. Rahman, 2016, Journal of Inherited Metabolic Disease.

JIMD Reports, Volume 27

M. Baumgartner, M. Patterson, S. Rahman, 2016, JIMD Reports.

Leigh syndrome: One disorder, more than 75 monogenic causes

S. Rahman, A. Compton, N. Lake, 2016, Annals of neurology.

Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

Marni J. Falk, Ryan L. Davis, E. Bertini, 2019, Journal of Medical Genetics.

Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

S. Rahman, R. Kirk, R. Godfrey, 2014, Journal of Neurology.

Mitochondrial disease and endocrine dysfunction

M. Dattani, J. Rahman, S. Rahman, 2017, Nature Reviews Endocrinology.

Moving towards clinical trials for mitochondrial diseases

J. Rahman, S. Rahman, R. Pitceathly, 2020, Journal of inherited metabolic disease.

Alpha Feto Protein in vaginal fluid as a diagnostic marker of Premature rupture of membrane

S. Rahman, N. Sultana, F. Ahmed, 2018, Northern International Medical College Journal.

JIMD Reports, Volume 24

M. Baumgartner, M. Patterson, S. Rahman, 2015, JIMD Reports.

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial

H. Mandel, P. Sedgwick, S. Rahman, 2019, Journal of clinical medicine.

JIMD Reports, Volume 29

M. Baumgartner, M. Patterson, S. Rahman, 2016, JIMD Reports.

Newborn screening: To WES or not to WES, that is the question

M. Baumgartner, M. Patterson, S. Rahman, 2020, Journal of inherited metabolic disease.

Can folic acid have a role in mitochondrial disorders?

S. Rahman, A. Ormazabal, R. Artuch, 2015, Drug discovery today.

Clinicopathological Profile of Cervical Cancer Patients Attending in a Specialized Hospital

S. Rahman, N. Begum, Sufia Sultana, 2018, Journal of Dhaka Medical College.

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

N. Sebire, M. Burch, S. Rahman, 2011, Journal of Medical Genetics.

Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

D. Strachan, M. Bitner-Glindzicz, A. Forge, 2012, BMJ Open.

Hearing in 44 e 45 year olds with m.1555A > G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

D. Strachan, M. Bitner-Glindzicz, A. Forge, 2022 .

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

A. Seller, P. Chinnery, R. Horvath, 2010, Neurology.

OxPhos Dysfunction Causes Hypermetabolism and Reduces Lifespan in Cells and in Patients with Mitochondrial Diseases

Anna S. Monzel, M. Levine, S. Horvath, 2022, bioRxiv.

JIMD Reports, Volume 35

M. Baumgartner, M. Patterson, S. Rahman, 2017, JIMD Reports.

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.

A. Singleton, J. Hardy, M. Bitner-Glindzicz, 2009, American journal of human genetics.

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

S. Rahman, C. Clarke, M. Hirano, 2012, Neuromuscular Disorders.

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

S. Dimauro, M. Schuelke, S. Rahman, 2010, PloS one.

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

S. Dimauro, R. Carrozzo, M. Koenig, 2010, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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

M. Hubank, S. Rahman, N. Klein, 2015, Intensive Care Medicine.

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

S. Rahman, S. Heales, I. Hargreaves, 2013, Journal of Inherited Metabolic Disease.

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

Robert W. Taylor, S. Rahman, S. Santra, 2016, Journal of pediatric gastroenterology and nutrition.

Mitochondrial diseases and status epilepticus

S. Rahman, 2018, Epilepsia.

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

J. Cross, S. Rahman, S. Heales, 2014, Journal of neurochemistry.

JIMD Reports, Volume 40

M. Baumgartner, M. Patterson, S. Rahman, 2018, JIMD Reports.

Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency

Bethan E. Hoskins, M. Samuels, S. Rahman, 2021, European Journal of Human Genetics.

Pathophysiology of mitochondrial disease causing epilepsy and status epilepticus

S. Rahman, 2015, Epilepsy & Behavior.

189th ENMC International workshop Complex I deficiency: Diagnosis and treatment 20–22 April 2012, Naarden, The Netherlands

S. Rahman, D. Thorburn, 2013, Neuromuscular Disorders.

Complex I de fi ciency : clinical features , biochemistry and molecular genetics

S. Rahman, E. Fassone, 2012 .

Complex I deficiency: clinical features, biochemistry and molecular genetics

S. Rahman, E. Fassone, 2012, Journal of Medical Genetics.

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

A. Pagnamenta, M. Bitner-Glindzicz, S. Rahman, 2006, Molecular genetics and metabolism.

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.

S. Rahman, M. Konrad, S. Waldegger, 2005, Journal of the American Society of Nephrology : JASN.

JIMD Reports, Volume 25

M. Baumgartner, M. Patterson, S. Rahman, 2016, JIMD Reports.

Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications

S. Rahman, E. Brodtkorb, L. Bindoff, 2018, Epilepsia.

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

V. Plagnol, J. Saldanha, S. Rahman, 2015, Journal of Inherited Metabolic Disease.

Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes

Alan E. Murphy, Nathan G. Skene, S. Rahman, 2022, bioRxiv.

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

S. Rahman, M. Cleary, K. Lindley, 2013, American journal of medical genetics. Part A.

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

I. Parees, F. Gago, H. Houlden, 2019, Human Genetics.

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

D. Saunders, S. Rahman, E. Glamuzina, 2012, Journal of Inherited Metabolic Disease.

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus

M. Mancuso, S. Rahman, M. O'Callaghan, 2020, Journal of inherited metabolic disease.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

S. Züchner, M. Lek, F. Muntoni, 2013, Brain : a journal of neurology.

The Kidney in Mitochondrial Diseases

S. Rahman, L. Salviati, F. Ozaltin, 2021, Pediatric Nephrology.

Advances in the treatment of mitochondrial epilepsies

S. Rahman, 2019, Epilepsy & Behavior.

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

S. Rahman, A. Hall, 2013, Pediatric Nephrology.

Mitochondrial disease and epilepsy

S. Rahman, 2012, Developmental medicine and child neurology.

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

A. Pagnamenta, V. Mootha, M. Bitner-Glindzicz, 2015, Human molecular genetics.

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

S. Rahman, E. Brodtkorb, L. Bindoff, 2017, Journal of Inherited Metabolic Disease.

Quo vadis now: Beyond genomics to an era of personalised medicine

M. Baumgartner, M. Patterson, S. Rahman, 2022, Journal of inherited metabolic disease.

Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency

S. Rahman, J. Leonard, S. Heales, 1994, Journal of Inherited Metabolic Disease.

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

J. Christodoulou, S. Rahman, M. Menezes, 2016, Mitochondrion.

Diagnostic Value of Succinate Ubiquinone Reductase Activity in the Identification of Patients with Mitochondrial DNA Depletion

S. Rahman, S. Heales, J. Leonard, 2002, Journal of Inherited Metabolic Disease.

Effect of Coenzyme Q10 supplementation on mitochondrial electron transport chain activity and mitochondrial oxidative stress in Coenzyme Q10 deficient human neuronal cells.

S. Rahman, S. Heales, A. Abramov, 2014, The international journal of biochemistry & cell biology.

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

Robert W. Taylor, A. Pagnamenta, M. Bitner-Glindzicz, 2006, Human reproduction.

Cardiac manifestations of mitochondrial disorders: reply

P. Elliott, S. Rahman, G. Limongelli, 2010 .

Quo vadis: the re-definition of “inborn metabolic diseases”

M. Baumgartner, M. Patterson, S. Rahman, 2015, Journal of Inherited Metabolic Disease.

Emerging aspects of treatment in mitochondrial disorders

S. Rahman, 2015, Journal of Inherited Metabolic Disease.

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

A. Need, M. Bleda, L. Moutsianas, 2022, Nature Communications.

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

A. Need, A. Pagnamenta, M. Caulfield, 2020, Nature Communications.

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

M. Sadowski, J. Holton, S. Rahman, 2011 .

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era

J. Hurst, T. Jacques, R. Scott, 2021, Neurology: Genetics.

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

A. Munnich, A. Mamoune, S. Rahman, 2012, Journal of Inherited Metabolic Disease.

Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders

S. Rahman, A. Goldstein, 2020, Journal of inherited metabolic disease.

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

Robert W. Taylor, A. Rötig, N. Hauser, 2019, Genetics in Medicine.

Kearns–Sayre syndrome caused by defective R1/p53R2 assembly

M. Sadowski, J. Holton, S. Rahman, 2011, Journal of Medical Genetics.

The impact of gender, puberty, and pregnancy in patients with POLG disease

S. Rahman, E. Brodtkorb, Christian Samsonsen, 2020, Annals of clinical and translational neurology.

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

S. Rahman, E. Brodtkorb, L. Bindoff, 2020, Journal of inherited metabolic disease.

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

S. Ferdinandusse, H. Waterham, S. Rahman, 2013, Orphanet Journal of Rare Diseases.

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

Jacqueline A Palace, R. Page, J. Holton, 2012, Neurology.

Research priorities for mitochondrial disorders: Current landscape and patient and professional views

M. Votruba, S. Rahman, R. Wheeler, 2022, Journal of inherited metabolic disease.

Status epilepticus in children with Alpers’ disease caused by POLG1 mutations: EEG and MRI features

I. Harting, T. Bast, S. Rahman, 2009, Epilepsia.

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

R. Ganetzky, R. Maroofian, H. Houlden, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Mitochondrial Neurodegenerative Disorders II: Ataxia, Dystonia and Leukodystrophies

E. Bertini, S. Rahman, 2019, Diagnosis and Management of Mitochondrial Disorders.

Gentamicin, genetic variation and deafness in preterm children

M. Bitner-Glindzicz, N. Marlow, S. Rahman, 2014, BMC Pediatrics.

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

A. Paetau, L. Aaltonen, R. Houlston, 2002, Nature Genetics.

JIMD Reports, Volume 41: Focus Issue: Adults and Metabolism

M. Baumgartner, M. Patterson, S. Rahman, 2018, JIMD Reports.

Mitochondrial disease in children

S. Rahman, 2020, Journal of internal medicine.

Prevalence of Mitochondrial 1555A→G Mutation in Adults of European Descent

J. Heron, S. Rahman, A. Duncan, 2009 .

Late presentation of biotinidase deficiency with acute visual loss and gait disturbance

S. Rahman, M. Pike, S. Standing, 1997, Developmental medicine and child neurology.

JIMD Reports, Volume 36

M. Baumgartner, M. Patterson, S. Rahman, 2017, JIMD Reports.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Inborn errors of metabolism causing epilepsy

S. Rahman, P. Clayton, S. Varadkar, 2013, Developmental medicine and child neurology.

EPILEPTIC ENCEPHALOPATHY PRESENTING IN THE NEONATAL PERIOD AND EARLY INFANCY

S. Rahman, P. Clayton, S. Varadkar, 2012 .

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

Treatable Leigh-like encephalopathy presenting in adolescence

S. Rahman, W. Chong, L. Carr, 2013, BMJ Case Reports.

Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders

Y. Crow, P. Hogarth, S. Rahman, 2020, Brain communications.

Cerebral folate deficiency: Analytical tests and differential diagnosis

S. Rahman, R. Artuch, S. Heales, 2019, Journal of inherited metabolic disease.

S. Rahman, W. Copeland, 2018, Nature Reviews Neurology.

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

T. Jacques, M. Duchen, V. Plagnol, 2015, Brain : a journal of neurology.

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

S. Rahman, M. Hanna, M G Hanna, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

JIMD Reports, Volume 26

M. Baumgartner, M. Patterson, S. Rahman, 2016, JIMD Reports.

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

H. Williams, Malika Benatti, S. Holden, 2017, Journal of Inherited Metabolic Disease.

Skin Metastasis with Non-healing Ulcer: An Unusual Presentation of Metastasis of Carcinoma Cervix

S. Rahman, S. Nahar, S. Afroj, 2019, Journal of Bangladesh College of Physicians and Surgeons.

Retrospective natural history of thymidine kinase 2 deficiency

Robert W. Taylor, S. Dimauro, P. Chinnery, 2018, Journal of Medical Genetics.

TRNT1 deficiency: clinical, biochemical and molecular genetic features

M. Minczuk, V. Plagnol, J. Saldanha, 2016, Orphanet Journal of Rare Diseases.

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

C. Saunders, S. Rahman, S. Wortmann, 2017, Journal of Inherited Metabolic Disease.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

T. Jacques, W. Yue, S. Rahman, 2016, Brain : a journal of neurology.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

Robert W. Taylor, E. Haan, Pedro Rebelo-Guiomar, 2018, bioRxiv.

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion

A. Pagnamenta, M. Bitner-Glindzicz, S. Rahman, 2009, Human mutation.

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

Maria Bitner-Glindzicz, Shamima Rahman, A. Pagnamenta, 2005, American journal of human genetics.

Natural history of mitochondrial disorders: a systematic review.

S. Rahman, Nandaki Keshavan, 2018, Essays in biochemistry.

Disorders of riboflavin metabolism

J. Christodoulou, S. Rahman, S. Balasubramaniam, 2019, Journal of inherited metabolic disease.

JIMD Reports, Volume 45

M. Baumgartner, M. Patterson, S. Rahman, 2019, JIMD Reports.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

POLG mutations and age at menopause.

S. Rahman, G. Conway, A. Duncan, 2012, Human reproduction.

JIMD Reports, Volume 43

M. Baumgartner, M. Patterson, S. Rahman, 2019, JIMD Reports.

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

A. Need, A. Pagnamenta, C. Tregidgo, 2020, Nature Communications.

B Vitamins: Small molecules, big effects

M. Baumgartner, S. Rahman, 2019, Journal of inherited metabolic disease.

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

S. Rahman, C. Spagnoli, C. de Sousa, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

Anna S. Monzel, M. Levine, Saeed Tavazoie, 2023, Communications Biology.

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

M. Caulfield, P. Chinnery, R. Horvath, 2021, BMJ.

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Paolo Gasparini, Brigitte Vollmer, Massimo Zeviani, 2004, American journal of human genetics.

SURF1 deficiency: a multi-centre natural history study

Robert W. Taylor, E. Aasheim, S. Rahman, 2013, Orphanet Journal of Rare Diseases.

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights

A. Sinclair, S. Rahman, S. Wortmann, 2022, The Journal of clinical endocrinology and metabolism.

JIMD Reports, Volume 39

M. Patterson, S. Rahman, J. Zschocke, 2018, JIMD Reports.

JIMD Reports, Volume 23

M. Baumgartner, M. Patterson, S. Rahman, 2015 .

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

S. Rahman, S. Heales, S. Eaton, 2013, Neurochemistry International.

Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis

E. Shoubridge, H. Antonicka, Kevin C. H. Ha, 2013, Human mutation.

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

M. Bitner-Glindzicz, H. Williams, J. Hurst, 2018, Journal of Medical Genetics.

Gastrointestinal and hepatic manifestations of mitochondrial disorders

S. Rahman, 2013, Journal of Inherited Metabolic Disease.

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

Francesco Muntoni, Jim Stalker, Rahul Phadke, 2013, JAMA neurology.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Mitochondrial DNA-related diseases associated with single large-scale deletions and point mutations

S. Rahman, R. Pitceathly, 2020 .

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

S. Rahman, M. Sweeney, P. Clayton, 2014, Journal of Inherited Metabolic Disease.

JIMD Reports, Volume 44

M. Baumgartner, M. Patterson, S. Rahman, 2019, JIMD Reports.

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Robert W. Taylor, W. Chung, H. Prokisch, 2017, Annals of neurology.

Diagnostic Workup of Patients with Mitochondrial Diseases

S. Rahman, N. Wolf, 2017 .

JIMD Reports, Volume 38

M. Patterson, S. Rahman, 2018, JIMD Reports.

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease

V. Fellman, Matteo P. Ferla, Jenny C. Taylor, 2021, Annals of clinical and translational neurology.

An Exploratory Study on the Adequacy of Internship Program Duration in Medical Colleges of Bangladesh

S. Rahman, A. Arefin, Sabbir Ahmed Chowdhury, 2021 .

Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome

S. Rahman, C. Clarke, B. Meunier, 2017, Front. Physiol..

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop

E. Bertini, S. Rahman, S. Parikh, 2018, Journal of Inherited Metabolic Disease.

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

Robert W. Taylor, D. Turnbull, S. Rahman, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

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

M. Bitner-Glindzicz, S. Rahman, E. Ashton, 2014, Human molecular genetics.

Effect of neuropsychiatric medications on mitochondrial function: For better or for worse

M. Veldic, R. Rodenburg, S. Rahman, 2021, Neuroscience & Biobehavioral Reviews.

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

B. Harding, T. Jacques, J. Holton, 2016, PloS one.

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

S. Rahman, G. Limongelli, M. Hanna, 2010, European journal of heart failure.

Mitochondrial DNA-Associated Leigh Syndrome and NARP

J. Rahman, S. Rahman, D. Thorburn, 2014 .

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

J. Cross, T. Jacques, S. Rahman, 2017, Genetics in Medicine.

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

J. Holton, S. Rahman, M. Sweeney, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

T. Jacques, S. Rahman, J. Taanman, 2017, Genetics in Medicine.

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

Robert W. Taylor, D. Turnbull, J. Lindon, 2015, Kidney international.

Inherited mitochondrial disease

S. Rahman, H. Lemonde, 2015, Paediatrics and Child Health.

Recognition, investigation and management of mitochondrial disease

S. Rahman, J. Davison, 2017, Archives of Disease in Childhood.

TMEM70 deficiency: long-term outcome of 48 patients

E. Bertini, H. Mandel, S. Rahman, 2015, Journal of Inherited Metabolic Disease.

Plasma thiol status is altered in children with mitochondrial diseases

S. Rahman, J. Leonard, R. Lapatto, 2012, Scandinavian journal of clinical and laboratory investigation.

Leigh map: A novel computational diagnostic resource for mitochondrial disease

Ines Thiele, Alberto Noronha, Shamima Rahman, 2017, Annals of neurology.

The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome

S. Rahman, S. Heales, E. Fassone, 2016, Journal of Inherited Metabolic Disease.

Nuclear Genetic Causes of Leigh and Leigh-Like Syndrome

S. Rahman, J. Davison, 2016 .

Diagnosis of mitochondrial DNA depletion syndromes

S. Rahman, J. Poulton, 2008, Archives of Disease in Childhood.

Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy

T. Jacques, V. Plagnol, S. Rahman, 2015, Neuropathology and applied neurobiology.

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

J. Christodoulou, S. Rahman, F. Scaglia, 2021, Advanced genetics.

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

M. Tarnopolsky, P. Yu-Wai-Man, J. Shoffner, 2017, Journal of Inherited Metabolic Disease.

Cardiac valve involvement in ADAR-related type I interferonopathy

Y. Crow, S. Rahman, A. Giardini, 2019, Journal of Medical Genetics.

Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.

J. Marsh, S. Rahman, N. Foulds, 2023, European journal of medical genetics.

Comment on “A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome”

M. Mancuso, S. Rahman, L. Bindoff, 2020, Journal of inherited metabolic disease.

Drooping Eyelids Plus

S. Rahman, Yehani Wedatilake, 2017 .

JIMD Reports, Volume 30

M. Baumgartner, M. Patterson, S. Rahman, 2016, JIMD Reports.

Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations

S. Rahman, P. Clayton, J. Zschocke, 2003, European Journal of Pediatrics.

Diagnosis and management of mitochondrial respiratory chain disorders

S. Rahman, J. Leonard, K. Bhattacharya, 2003 .

Evaluation of Internship Assessment in Medical Colleges of Bangladesh

S. Rahman, A. Arefin, H. K. Talukder, 2017 .

Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease

M. Baumgartner, M. Patterson, S. Rahman, 2023, Journal of inherited metabolic disease.

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Robert W. Taylor, N. Ashley, A. Seller, 2013, European Journal of Human Genetics.

JIMD Reports, Volume 20

M. Baumgartner, M. Patterson, S. Rahman, 2015 .

Near infrared spectroscopy with a vascular occlusion test as a biomarker in children with mitochondrial and other neuro-genetic disorders

S. Rahman, M. Peters, S. Raman, 2018, PloS one.

The doxycycline paradox in primary mitochondrial diseases

S. Rahman, E. Morava, T. Kozicz, 2022, Journal of inherited metabolic disease.

JIMD Reports, Volume 42

M. Baumgartner, M. Patterson, S. Rahman, 2018, JIMD Reports.

Development of pharmacological strategies for mitochondrial disorders

S. Rahman, S. Heales, S. Rahman, 2014, British journal of pharmacology.

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency

F. Muntoni, B. Andresen, S. Rahman, 2003, Journal of Inherited Metabolic Disease.

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

S. Rahman, A. Suomalainen, J. Poulton, 2001, American journal of human genetics.

Editorial: Mitochondrial medicine special issue

Marni J. Falk, V. Mootha, P. Chinnery, 2021, Journal of inherited metabolic disease.

Nuclear Gene-Encoded Leigh Syndrome Overview

S. Rahman, D. Thorburn, 2015 .

JIMD Reports, Volume 18

M. Baumgartner, M. Patterson, S. Rahman, 2015 .

Leigh syndrome: One disorder, more than 75 monogenic causes

S. Rahman, A. Compton, N. Lake, 2016 .

258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

Marni J. Falk, H. Prokisch, A. Rötig, 2023, Neuromuscular Disorders.

PGC-1β mediates adaptive chemoresistance associated with mitochondrial DNA mutations

G. Kroemer, S. Rahman, M. Sweeney, 2013, Oncogene.

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

G. Plant, T. Yousry, J. Thornton, 2015, European Radiology.

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Marni J. Falk, Lishuang Shen, B. Harding, 2023, Annals of neurology.

Mitochondrial medicine in the omics era

J. Rahman, S. Rahman, 2018, The Lancet.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

Effect of Coenzyme Q10 supplementation on mitochondrial electron transport chain activity and mitochondrial oxidative stress in Coenzyme Q10 deficient human neuronal cells.

S. Rahman, S. Heales, I. Hargreaves, 2014, International Journal of Biochemistry and Cell Biology.