Shamima Rahman spends much of his time researching Genetics, Mitochondrial disease, Mutation, Mitochondrial DNA and Mitochondrion. His Genetics study frequently intersects with other fields, such as Immunology. His Mitochondrial disease study combines topics in areas such as Coenzyme Q10 deficiency, Genetic heterogeneity, Disease management and Mitochondrial respiratory chain.
His research in Mitochondrial DNA intersects with topics in Lactic acidosis, DNA, Point mutation, Molecular biology and Respiratory chain. His research integrates issues of Endocrinology, Polymerase, Southern blot, Internal medicine and Mitochondrial biogenesis in his study of Respiratory chain. The subject of his Mitochondrion research is within the realm of Biochemistry.
His scientific interests lie mostly in Mitochondrial disease, Genetics, Mitochondrial DNA, Internal medicine and Bioinformatics. His Mitochondrial disease research incorporates elements of Mitochondrion, Inner mitochondrial membrane, Disease, Pathology and Genetic heterogeneity. He frequently studies issues relating to Lactic acidosis and Genetics.
The Mitochondrial myopathy research Shamima Rahman does as part of his general Mitochondrial DNA study is frequently linked to other disciplines of science, such as Context, therefore creating a link between diverse domains of science. Shamima Rahman has researched Internal medicine in several fields, including Gastroenterology, Endocrinology and Sensorineural hearing loss. His Bioinformatics research is multidisciplinary, incorporating elements of Ataxia and Status epilepticus, Epilepsy.
Shamima Rahman mostly deals with Mitochondrial disease, Disease, Bioinformatics, Internal medicine and Mitochondrial DNA. His Mitochondrial disease study combines topics from a wide range of disciplines, such as Oxidative stress, Clinical trial, Myopathy, Intensive care medicine and Computational biology. The Disease study combines topics in areas such as Biomarker and Human Phenotype Ontology.
His studies deal with areas such as Ataxia, Movement disorders, Status epilepticus and Phenocopy as well as Bioinformatics. His Internal medicine study integrates concerns from other disciplines, such as Gastroenterology, Endocrinology, Function and EIF2S3. His Mitochondrial DNA study introduces a deeper knowledge of Genetics.
His primary scientific interests are in Mitochondrial disease, Internal medicine, Bioinformatics, Mitochondrial DNA and Nuclear gene. His Mitochondrial disease research is multidisciplinary, relying on both Oxidative stress, Clinical trial, Personalized medicine and Medical genetics. His Internal medicine research is multidisciplinary, incorporating perspectives in Endocrinology, Cerebellar ataxia and Hearing loss.
His Bioinformatics research integrates issues from Phenocopy and Myopathy. Mitochondrial DNA is a subfield of Genetics that Shamima Rahman explores. His Nuclear gene research is multidisciplinary, incorporating perspectives in Whole genome sequencing, Genetic heterogeneity and DNA.
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Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Tomlinson Ip;Alam Na;Rowan Aj;Barclay E.
Nature Genetics (2002)
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
Shamima Rahman;R. B. Blok;H. H. M. Dahl;David M. Danks.
Annals of Neurology (1996)
Leigh syndrome: One disorder, more than 75 monogenic causes
Nicole J. Lake;Nicole J. Lake;Alison G. Compton;Alison G. Compton;Shamima Rahman;David R. Thorburn;David R. Thorburn.
Annals of Neurology (2016)
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.
Orly Elpeleg;Orly Elpeleg;Chaya Miller;Eli Hershkovitz;Maria Bitner-Glindzicz.
American Journal of Human Genetics (2005)
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency
N A Alam;A J Rowan;N C Wortham;P J Pollard.
Human Molecular Genetics (2003)
Complex I deficiency: clinical features, biochemistry and molecular genetics
Elisa Fassone;Shamima Rahman;Shamima Rahman.
Journal of Medical Genetics (2012)
Decrease of 3243 A→G mtDNA Mutation from Blood in MELAS Syndrome: A Longitudinal Study
S. Rahman;J. Poulton;D. Marchington;A. Suomalainen.
American Journal of Human Genetics (2001)
A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease
Andrew J. Duncan;Maria Bitner-Glindzicz;Brigitte Meunier;Harry Costello.
American Journal of Human Genetics (2009)
Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein
Valeria Tiranti;Pio D'Adamo;Egill Briem;Gianfrancesco Ferrari.
American Journal of Human Genetics (2004)
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management
Victoria Nesbitt;Robert D S Pitceathly;Doug M Turnbull;Robert W Taylor.
Journal of Neurology, Neurosurgery, and Psychiatry (2013)
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