Zobrazeno 1 - 10
of 266
pro vyhledávání: '"Shamima Rahman"'
Autor:
Erle Kristensen, Linda Mathisen, Siren Berland, Claus Klingenberg, Eylert Brodtkorb, Magnhild Rasmussen, Trine Tangeraas, Yngve T. Bliksrud, Shamima Rahman, Laurence Albert Bindoff, Omar Hikmat
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1819-1830 (2024)
Abstract Objective To investigate the prevalence and natural history of POLG disease in the Norwegian population. Methods A national, population‐based, retrospective study using demographic, clinical, and genetic data of patients with genetically c
Externí odkaz:
https://doaj.org/article/4a0c133097554238b0fa3d89ae495a19
Publikováno v:
Pharmacological Research, Vol 203, Iss , Pp 107129- (2024)
Cancer-related anorexia-cachexia (CRAC) comprises one of the most common syndromes of advanced cancer patients. The prevalence of CRAC increases from 50% to 80% before death. CRAC is associated not only with impaired quality of life in patients and f
Externí odkaz:
https://doaj.org/article/7e400caa1d1a4afc9baeb03c651a277a
Autor:
Gabriel Sturm, Kalpita R. Karan, Anna S. Monzel, Balaji Santhanam, Tanja Taivassalo, Céline Bris, Sarah A. Ware, Marissa Cross, Atif Towheed, Albert Higgins-Chen, Meagan J. McManus, Andres Cardenas, Jue Lin, Elissa S. Epel, Shamima Rahman, John Vissing, Bruno Grassi, Morgan Levine, Steve Horvath, Ronald G. Haller, Guy Lenaers, Douglas C. Wallace, Marie-Pierre St-Onge, Saeed Tavazoie, Vincent Procaccio, Brett A. Kaufman, Erin L. Seifert, Michio Hirano, Martin Picard
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-22 (2023)
A meta-analysis of 17 cohorts of mitochondrial disease patients reveals that OxPhos defects are associated with signs of hypermetabolism. Experiments in patient-derived fibroblast show that mitochondrial OxPhos defects trigger hypermetabolism in a ce
Externí odkaz:
https://doaj.org/article/8f3a6949c7834f1f9cf472f8feac04b2
Autor:
William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist multidi
Externí odkaz:
https://doaj.org/article/08d61047bd944df7b04fb88435d3cd14
Autor:
Saika Farook, Md. Shariful Alam Jilani, Md. Kamrul Islam, Shamima Rahman, Rumana Ashraf, Naval Mendiratta, Sudhir Kumar Rawal
Publikováno v:
Clinical Case Reports, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Immunoglobulin G4 (IgG4)‐related disease (IgG4‐RD) is a multi‐organ immune‐mediated fibroinflammatory disorder that may imitate malignancy, infectious or any other inflammatory disorder. IgG4‐related retroperitoneal fibrosis (IgG4
Externí odkaz:
https://doaj.org/article/8854d6b4b85c4799ade5a614d84eb900
Autor:
Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2155-2165 (2021)
Abstract Objective To delineate the full phenotypic spectrum of BCS1L‐related disease, provide better understanding of the genotype–phenotype correlations and identify reliable prognostic disease markers. Methods We performed a retrospective mult
Externí odkaz:
https://doaj.org/article/7ea99688d16d4beba2c9f25ff13dc276
Autor:
Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal M. E. Tallaksen, Christian Samsonsen, Eylert Brodtkorb, Elsebet Ostergaard, Rene de Coo, Leticia Pias‐Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darin, Shamima Rahman, Laurence A. Bindoff
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2019-2025 (2020)
Abstract Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods Clinical, laboratory, and genetic data were collected retrospectively from 155 pa
Externí odkaz:
https://doaj.org/article/e138e62d2745491f9053735c2db70e67
Autor:
Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall, Alba Sanchis-Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A. Odhams, Genomics England Research Consortium, NIHR BioResource, Carl Fratter, Ernest Turro, Mark J. Caulfield, Jenny C. Taylor, Shamima Rahman, Patrick F. Chinnery
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Recent evidence has questioned the dogma of strict maternal transmission of mitochondrial DNA (mtDNA) in humans. Wei et al. saw no evidence of paternal transmission of mtDNA in 11,035 human trios, and show that nuclear-mitochondrial segments (NUMTs)
Externí odkaz:
https://doaj.org/article/1b33ee54b03a414c950db059cdfe623d
Autor:
Amel Karaa, Laura E. MacMullen, John C. Campbell, John Christodoulou, Bruce H. Cohen, Thomas Klopstock, Yasutoshi Koga, Costanza Lamperti, Rob vanMaanen, Robert McFarland, Sumit Parikh, Shamima Rahman, Fernando Scaglia, Alexander V. Sherman, Philip Yeske, Marni J. Falk
Publikováno v:
Advanced Genetics, Vol 3, Iss 1, Pp n/a-n/a (2022)
Abstract Primary mitochondrial diseases (PMD) are genetic disorders with extensive clinical and molecular heterogeneity where therapeutic development efforts have faced multiple challenges. Clinical trial design, outcome measure selection, lack of re
Externí odkaz:
https://doaj.org/article/8cf3a91187eb4fbda59f9d81b59014df
Autor:
Moustaq Karim Khan Rony, Shuvashish Das Bala, Md. Moshiur Rahman, Afrin Jahan Dola, Ibne Kayesh, Md. Tawhidul Islam, Israth Jahan Tama, Emdadul Haque Shafi, Shamima Rahman
Publikováno v:
Belitung Nursing Journal (2021)
Background: As the incidence of COVID-19 is increasing, the Bangladesh government has announced a countrywide shutdown instead of a lockdown. Consequently, front-line healthcare workers, particularly nurses, are confronting more challenging situation
Externí odkaz:
https://doaj.org/article/323c7c760d734d2690986cb56fc2cc13