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110 results for Rahman,+Shamima

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Mitochondrial disease and endocrine dysfunction
Author / Creator:Chow, Jasmine ; Rahman, Joyeeta ; Achermann, John C. ; Dattani, Mehul T. ; Rahman, Shamima
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Endocrinology, 2017-02, Vol.13 (2), p.92-104
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Biparental inheritance of mitochondrial DNA revisited
Author / Creator:Pagnamenta, Alistair T. ; Wei, Wei ; Rahman, Shamima ; Chinnery, Patrick F.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2021-08, Vol.22 (8), p.477-478
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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Author / Creator:Parikh, Sumit ; Goldstein, Amy ; Karaa, Amel ; Koenig, Mary Kay ; Anselm, Irina ; Brunel-Guitton, Catherine ; Christodoulou, John ; Cohen, Bruce H ; Dimmock, David ; Enns, Gregory M ; Falk, Marni J ; Feigenbaum, Annette ; Frye, Richard E ; Ganesh, Jaya ; Griesemer, David ; Haas, Richard ; Horvath, Rita ; Korson, Mark ; Kruer, Michael C ; Mancuso, Michelangelo ; McCormack, Shana ; Raboisson, Marie Josee ; Reimschisel, Tyler ; Salvarinova, Ramona ; Saneto, Russell P ; Scaglia, Fernando ; Shoffner, John ; Stacpoole, Peter W ; Sue, Carolyn M ; Tarnopolsky, Mark ; Van Karnebeek, Clara ; Wolfe, Lynne A ; Cunningham, Zarazuela Zolkipli ; Rahman, Shamima ; Chinnery, Patrick F
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1380
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Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency
Author / Creator:Hay, Eleanor ; Wilson, Louise C ; Hoskins, Bethan ; Samuels, Martin ; Munot, Pinki ; Rahman, Shamima
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-10, Vol.29 (10), p.1536-1541
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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Author / Creator:Schon, Katherine R ; Horvath, Rita ; Wei, Wei ; Calabrese, Claudia ; Tucci, Arianna ; Ibañez, Kristina ; Ratnaike, Thiloka ; Pitceathly, Robert D S ; Bugiardini, Enrico ; Quinlivan, Rosaline ; Hanna, Michael G ; Clement, Emma ; Ashton, Emma ; Sayer, John A ; Brennan, Paul ; Josifova, Dragana ; Izatt, Louise ; Fratter, Carl ; Nesbitt, Victoria ; Barrett, Timothy ; McMullen, Dominic J ; Smith, Audrey ; Deshpande, Charulata ; Smithson, Sarah F ; Festenstein, Richard ; Canham, Natalie ; Caulfield, Mark ; Houlden, Henry ; Rahman, Shamima ; Chinnery, Patrick F ; Ambrose, John C ; Arumugam, Prabhu ; Bevers, Roel ; Bleda, Marta ; Boardman-Pretty, Freya ; Boustred, Christopher R ; Brittain, Helen ; Caulfield, Mark J ; Chan, Georgia C ; Elgar, Greg ; Fowler, Tom ; Giess, Adam ; Hamblin, Angela ; Henderson, Shirley ; Hubbard, Tim J P ; Jackson, Rob ; Jones, Louise J ; Kasperaviciute, Dalia ; Kayikci, Melis ; Kousathanas, Athanasios ; Lahnstein, Lea ; Leigh, Sarah E A ; Leong, Ivonne U S ; Lopez, Javier F ; Maleady-Crowe, Fiona ; McEntegart, Meriel ; Minneci, Federico ; Moutsianas, Loukas ; Mueller, Michael ; Murugaesu, Nirupa ; Need, Anna C ; O’Donovan, Peter ; Odhams, Chris A ; Patch, Christine ; Buonerimo Pereira, Mariana ; Perez-Gil, Daniel ; Pullinger, John ; Rahim, Tahrima ; Rendon, Augusto ; Rogers, Tim ; Savage, Kevin ; Sawant, Kushmita ; Scott, Richard H ; Siddiq, Afshan ; Sieghart, Alexander ; Smith, Samuel C ; Sosinsky, Alona ; Stuckey, Alexander ; Tanguy, Mélanie ; Taylor Tavares, Ana Lisa ; Thomas, Ellen R A ; Thompson, Simon R ; Tucci, Arianna ; Welland, Matthew J ; Williams, Eleanor ; Witkowska, Katarzyna ; Wood, Suzanne M
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ (Online), 2021-11, Vol.375, p.e066288-e066288
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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Author / Creator:Wei, Wei ; Pagnamenta, Alistair T. ; Gleadall, Nicholas ; Sanchis-Juan, Alba ; Stephens, Jonathan ; Broxholme, John ; Tuna, Salih ; Odhams, Christopher A. ; Fratter, Carl ; Turro, Ernest ; Caulfield, Mark J. ; Taylor, Jenny C. ; Rahman, Shamima ; Chinnery, Patrick F.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-04, Vol.11 (1), p.1740-1740, Article 1740
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Cardiac valve involvement in ADAR-related type I interferonopathy
Author / Creator:Crow, Yanick ; Keshavan, Nandaki ; Barbet, Jacques Patrick ; Bercu, Geanina ; Bondet, Vincent ; Boussard, Charlotte ; Dedieu, Nathalie ; Duffy, Darragh ; Hully, Marie ; Giardini, Alessandro ; Gitiaux, Cyril ; Rice, Gillian Inara ; Seabra, Luis ; Bader-Meunier, Brigitte ; Rahman, Shamima
Publisher:London: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2020-07, Vol.57 (7), p.475-478
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Prevalence of Mitochondrial 1555A→G Mutation in European Children
Author / Creator:Heron, Jon ; Bitner-Glindzicz, Maria ; Rahman, Shamima ; Pembrey, Marcus ; Ring, Susan M ; Hall, Amanda ; Duncan, Andrew
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2009-02, Vol.360 (6), p.640-642
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Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
Author / Creator:Parikh, Sumit ; Karaa, Amel ; Goldstein, Amy ; Bertini, Enrico Silvio ; Chinnery, Patrick F ; Christodoulou, John ; Cohen, Bruce H ; Davis, Ryan L ; Falk, Marni J ; Fratter, Carl ; Horvath, Rita ; Koenig, Mary Kay ; Mancuso, Michaelangelo ; McCormack, Shana ; McCormick, Elizabeth M ; McFarland, Robert ; Nesbitt, Victoria ; Schiff, Manuel ; Steele, Hannah ; Stockler, Silvia ; Sue, Carolyn ; Tarnopolsky, Mark ; Thorburn, David R ; Vockley, Jerry ; Rahman, Shamima
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2019-03, Vol.56 (3), p.123-130
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Near infrared spectroscopy with a vascular occlusion test as a biomarker in children with mitochondrial and other neuro-genetic disorders
Author / Creator:Raman, Sainath ; Chentouf, Latifa ; DeVile, Catherine ; Peters, Mark J ; Rahman, Shamima
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-07, Vol.13 (7), p.e0199756-e0199756
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OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases
Author / Creator:Sturm, Gabriel ; Karan, Kalpita R. ; Monzel, Anna S. ; Santhanam, Balaji ; Taivassalo, Tanja ; Bris, Céline ; Ware, Sarah A. ; Cross, Marissa ; Towheed, Atif ; Higgins-Chen, Albert ; McManus, Meagan J. ; Cardenas, Andres ; Lin, Jue ; Epel, Elissa S. ; Rahman, Shamima ; Vissing, John ; Grassi, Bruno ; Levine, Morgan ; Horvath, Steve ; Haller, Ronald G. ; Lenaers, Guy ; Wallace, Douglas C. ; St-Onge, Marie-Pierre ; Tavazoie, Saeed ; Procaccio, Vincent ; Kaufman, Brett A. ; Seifert, Erin L. ; Hirano, Michio ; Picard, Martin
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2023-01, Vol.6 (1), p.22-22, Article 22
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Mitochondrial disease—an important cause of end-stage renal failure
Author / Creator:Rahman, Shamima ; Hall, Andrew M.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Pediatric nephrology (Berlin, West), 2013-03, Vol.28 (3), p.357-361
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A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease
Author / Creator:Rajakulendran, Sanjeev ; Pitceathly, Robert D S ; Taanman, Jan-Willem ; Costello, Harry ; Sweeney, Mary G ; Woodward, Cathy E ; Jaunmuktane, Zane ; Holton, Janice L ; Jacques, Thomas S ; Harding, Brian N ; Fratter, Carl ; Hanna, Michael G ; Rahman, Shamima
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-01, Vol.11 (1), p.e0145500
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Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects
Author / Creator:López, Luis C ; Quinzii, Catarina M ; Area, Estela ; Naini, Ali ; Rahman, Shamima ; Schuelke, Markus ; Salviati, Leonardo ; Dimauro, Salvatore ; Hirano, Michio
Publisher:United States: Public Library of Science (PLoS)
Journal title:PloS one, 2010-07, Vol.5 (7), p.e11897
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Mitochondrial medicine in the omics era
Author / Creator:Rahman, Joyeeta ; Rahman, Shamima
Publisher:England: Elsevier Limited
Journal title:The Lancet (British edition), 2018-06, Vol.391 (10139), p.2560-2574
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Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
Author / Creator:Kristensen, Erle ; Mathisen, Linda ; Berland, Siren ; Klingenberg, Claus ; Brodtkorb, Eylert ; Rasmussen, Magnhild ; Tangeraas, Trine ; Bliksrud, Yngve T. ; Rahman, Shamima ; Bindoff, Laurence Albert ; Hikmat, Omar
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2024-07, Vol.11 (7), p.1819-1830
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The combination of mitragynine and morphine prevents the development of morphine tolerance in mice
Author / Creator:Fakurazi, Sharida ; Rahman, Shamima Abdul ; Hidayat, Mohamad Taufik ; Ithnin, Hairuszah ; Moklas, Mohamad Aris Mohd ; Arulselvan, Palanisamy
Publisher:Switzerland: MDPI AG
Journal title:Molecules (Basel, Switzerland), 2013-01, Vol.18 (1), p.666-681
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Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene
Author / Creator:Uusimaa, Johanna ; Evans, Julie ; Smith, Conrad ; Butterworth, Anna ; Craig, Kate ; Ashley, Neil ; Liao, Chunyan ; Carver, Janet ; Diot, Alan ; Macleod, Lorna ; Hargreaves, Iain ; Al-Hussaini, Abdulrahman ; Faqeih, Eissa ; Asery, Ali ; Al Balwi, Mohammed ; Eyaid, Wafaa ; Al-Sunaid, Areej ; Kelly, Deirdre ; van Mourik, Indra ; Ball, Sarah ; Jarvis, Joanna ; Mulay, Arundhati ; Hadzic, Nedim ; Samyn, Marianne ; Baker, Alastair ; Rahman, Shamima ; Stewart, Helen ; Morris, Andrew Am ; Seller, Anneke ; Fratter, Carl ; Taylor, Robert W ; Poulton, Joanna
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.184-191
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TMEM70 deficiency: long-term outcome of 48 patients
Author / Creator:Magner, Martin ; Dvorakova, Veronika ; Tesarova, Marketa ; Mazurova, Stella ; Hansikova, Hana ; Zahorec, Martin ; Brennerova, Katarina ; Bzduch, Vladimir ; Spiegel, Ronen ; Horovitz, Yoseph ; Mandel, Hanna ; Eminoğlu, Fatma Tuba ; Mayr, Johannes Adalbert ; Koch, Johannes ; Martinelli, Diego ; Bertini, Enrico ; Konstantopoulou, Vassiliki ; Smet, Joél ; Rahman, Shamima ; Broomfield, Alexander ; Stojanović, Vesna ; Dionisi-Vici, Carlo ; van Coster, Rudy ; Morava-Kozicz, Eva ; Sperl, Wolfgang ; Zeman, Jiri ; Honzik, Tomas
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.417-426
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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...
Author / Creator:Duberley, Kate E. C. ; Abramov, Andrey Y. ; Chalasani, Annapurna ; Heales, Simon J. ; Rahman, Shamima ; Hargreaves, Iain P.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-01, Vol.36 (1), p.63-73
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Mitochondrial disease and endocrine dysfunction

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Biparental inheritance of mitochondrial DNA revisited

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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

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

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

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

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Cardiac valve involvement in ADAR-related type I interferonopathy

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Prevalence of Mitochondrial 1555A→G Mutation in European Children

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Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

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

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

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

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

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Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects

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Mitochondrial medicine in the omics era

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Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study

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The combination of mitragynine and morphine prevents the development of morphine tolerance in mice

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

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TMEM70 deficiency: long-term outcome of 48 patients

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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...

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