The utility of phenomics in diagnosis of inherited metabolic disorders

Por Rahman, Joyeeta, Rahman, Shamima
Publicado no Clin Med (Lond) (2019)

Ototoxicity caused by aminoglycosides

Por Bitner-Glindzicz, Maria, Rahman, Shamima
Publicado em 2007

176th ENMC International Workshop: Diagnosis and treatment of Coenzyme Q(10) deficiency

Por Rahman, Shamima, Clarke, Catherine F, Hirano, Michio
Publicado em 2011

Leigh map: A novel computational diagnostic resource for mitochondrial disease

Por Rahman, Joyeeta, Noronha, Alberto, Thiele, Ines, Rahman, Shamima
Publicado no Ann Neurol (2017)

Gentamicin, genetic variation and deafness in preterm children

Por Bitner-Glindzicz, Maria, Rahman, Shamima, Chant, Kathy, Marlow, Neil
Publicado em 2014

Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases

Por Maldonado, Elaina M., Taha, Fatma, Rahman, Joyeeta, Rahman, Shamima
Publicado no Front Genet (2019)

Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

Por Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena
Publicado no JIMD Rep (2017)

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

Por Raman, Sainath, Chentouf, Latifa, DeVile, Catherine, Peters, Mark J., Rahman, Shamima
Publicado no PLoS One (2018)

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

Por Shahni, Rojeen, Wedatilake, Yehani, Cleary, Maureen A, Lindley, Keith J, Sibson, Keith R, Rahman, Shamima
Publicado em 2013

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

Por Raman, Sainath, Klein, Nigel, Kwan, Antonia, Hubank, Mike, Rahman, Shamima, Rashid, Asrar, Peters, Mark J.
Publicado no Intensive Care Med (2015)

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

Por He, Cuiwen H., Black, Dylan S., Allan, Christopher M., Meunier, Brigitte, Rahman, Shamima, Clarke, Catherine F.
Publicado no Front Physiol (2017)

Treatable Leigh-like encephalopathy presenting in adolescence

Por Fassone, Elisa, Wedatilake, Yehani, DeVile, Catherine J, Chong, W Kling, Carr, Lucinda J, Rahman, Shamima
Publicado em 2013

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

Por Wedatilake, Yehani, Plagnol, Vincent, Anderson, Glenn, Paine, Simon M. L., Clayton, Peter T., Jacques, Thomas S., Rahman, Shamima
Publicado no Neuropathol Appl Neurobiol (2015)

Mitochondrial m.1584A 12S m(6)(2)A rRNA methylation in families with m.1555A>G associated hearing loss

Por O'Sullivan, Mary, Rutland, Paul, Lucas, Deirdre, Ashton, Emma, Hendricks, Sebastian, Rahman, Shamima, Bitner-Glindzicz, Maria
Publicado no Hum Mol Genet (2015)

The Combination of Mitragynine and Morphine Prevents the Development of Morphine Tolerance in Mice

Por Fakurazi, Sharida, Rahman, Shamima Abdul, Hidayat, Mohamad Taufik, Ithnin, Hairuszah, Moklas, Mohamad Aris Mohd, Arulselvan, Palanisamy
Publicado no Molecules (2013)

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

Por Elpeleg, Orly, Miller, Chaya, Hershkovitz, Eli, Bitner-Glindzicz, Maria, Bondi-Rubinstein, Gili, Rahman, Shamima, Pagnamenta, Alistair, Eshhar, Sharon, Saada, Ann
Publicado em 2005

Antioxidant and anti-inflammatory properties of Erythroxylum cuneatum alkaloid leaf extract

Por Li, Lim Seow, Chiroma, Samaila Musa, Hashim, Thuaibah, Adam, Siti Khadijah, Mohd Moklas, Mohamad Aris, Yusuf, Zauyah, Rahman, Shamima Abdul
Publicado no Heliyon (2020)

Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

Por López, Luis C., Quinzii, Catarina M., Area, Estela, Naini, Ali, Rahman, Shamima, Schuelke, Markus, Salviati, Leonardo, DiMauro, Salvatore, Hirano, Michio
Publicado em 2010

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

Por Kanabus, Marta, Fassone, Elisa, Hughes, Sean David, Bilooei, Sara Farahi, Rutherford, Tricia, Donnell, Maura O’, Heales, Simon J. R., Rahman, Shamima
Publicado no J Inherit Metab Dis (2016)

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

Por Rahman, Shamima, Ecob, Russell, Costello, Harry, Sweeney, Mary G, Duncan, Andrew J, Pearce, Kerra, Strachan, David, Forge, Andrew, Davis, Adrian, Bitner-Glindzicz, Maria
Publicado em 2012