Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Yehani Wedatilake"'
Autor:
Inga Margret Antonsdottir, Byron Creese, Lambertus Klei, Mary Ann A. DeMichele‐Sweet, Elise A. Weamer, Pablo Garcia‐Gonzalez, Marta Marquie, Mercè Boada, Emilio Alarcón‐Martín, Sergi Valero, NIA‐LOAD Family Based Study Consortium, Alzheimer's Disease Genetics Consortium (ADGC), AddNeuroMed Consortium, Yushi Liu, Basavaraj Hooli, Dag Aarsland, Geir Selbaek, Sverre Bergh, Arvid Rongve, Ingvild Saltvedt, Håvard K. Skjellegrind, Bo Engdahl, Ole A. Andreassen, Barbara Borroni, Patrizia Mecocci, Yehani Wedatilake, Richard Mayeux, Tatiana Foroud, Agustín Ruiz, Oscar L. Lopez, M. Ilyas Kamboh, Clive Ballard, Bernie Devlin, Constantine Lyketsos, Robert A. Sweet
Publikováno v:
Alzheimer’s & Dementia: Translational Research & Clinical Interventions, Vol 10, Iss 2, Pp n/a-n/a (2024)
Abstract INTRODUCTION Individuals with Alzheimer's disease (AD) commonly experience neuropsychiatric symptoms of psychosis (AD+P) and/or affective disturbance (depression, anxiety, and/or irritability, AD+A). This study's goal was to identify the gen
Externí odkaz:
https://doaj.org/article/a1a7614a399a4111a93a34bac89a37bd
Autor:
Geir Selbaek, Josephine Stuebs, Knut Engedal, Vladimir Hachinski, Knut Hestad, Cathrine Selnes Trevino, Håvard Skjellegrind, Yehani Wedatilake, Bjørn Heine Strand
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
High blood pressure is a well-established risk factor of dementia. However, the timing of the risk remains controversial. The aim of the present study was to compare trajectories of systolic blood pressure (SBP) over a 35-year follow-up period in the
Externí odkaz:
https://doaj.org/article/21bd8e13a465427aa82bfbcf346758b1
Autor:
Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna
Publikováno v:
Cell Reports, Vol 3, Iss 6, Pp 1795-1805 (2013)
The molecular basis of cytochrome c oxidase (COX, complex IV) deficiency remains genetically undetermined in many cases. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous pedigree with isolated COX deficiency linked t
Externí odkaz:
https://doaj.org/article/7f50ed1f094e41fea13e5a8a8b52cb0f
Autor:
Luke Stephen Weymouth, Morteza P Kouhsar, Byron Creese, Sverre Bergh, Yehani Wedatilake, Ali Torkamani, Adam R. Smith, Geir Selbaek, Robert Sweet, Clive G Ballard, Jonathan Mill, Julia Kofler, Ehsan Pishva, Katie Lunnon
Publikováno v:
Alzheimer's & Dementia. 18
Autor:
Charlotte Simister, Parag Sayal, Yehani Wedatilake, Elaine Murphy, Aidan Ryan, Adrian T. H. Casey, Aoife M. Waters, Robin H. Lachmann, Ulpee Darbar, Annalisa Sechi, Douglas Chesher, Michael J Oddy
Publikováno v:
Journal of Inherited Metabolic Disease
X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH. XLH is associated wit
Autor:
Yehani Wedatilake, Glenn Anderson, Peter E. Clayton, Thomas S. Jacques, Shamima Rahman, Vincent Plagnol, Simon M. L. Paine
Publikováno v:
Neuropathology and Applied Neurobiology. 41:399-402
Tubular aggregates (TAs) are cytoplasmic aggregates of membranous tubules derived from the sarcoplasmic reticulum and usually 50–70 nm in diameter [1]. They may be seen in a range of genetic myopathies, including gyrate atrophy caused by ornithine
Autor:
Shamima Rahman, Rojeen Shahni, Keith J. Lindley, Keith Sibson, Maureen Cleary, Yehani Wedatilake
Publikováno v:
American Journal of Medical Genetics. Part a
Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protei
Autor:
Mary G. Sweeney, Iain P. Hargreaves, Yehani Wedatilake, Robert D S Pitceathly, Henry Houlden, Matthew E. Hurles, Jim Stalker, Shamima Rahman, Sebahattin Cirak, James M. Polke, A Sailer, Francesco Muntoni, A. Reghan Foley, Jan-Willem Taanman, Cathy E. Woodward, Michael G. Hanna
Publikováno v:
Cell Reports, Vol 3, Iss 6, Pp 1795-1805 (2013)
Cell Reports, Vol 4, Iss 2, p 402 (2013)
Cell Reports
Cell Reports, Vol 4, Iss 2, p 402 (2013)
Cell Reports
Summary The molecular basis of cytochrome c oxidase (COX, complex IV) deficiency remains genetically undetermined in many cases. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous pedigree with isolated COX deficiency
Autor:
Yehani Wedatilake, Shamima Rahman
Publikováno v:
Neuromuscular Disease ISBN: 9781447123880
This is a case of a 17-year-old girl who presented with gradual onset ptosis, external ophthalmoplegia and pigmentary retinopathy. She was diagnosed with Kearns-Sayre Syndrome (KSS), a mitochondrial disorder, which is defined by the triad: onset befo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ac3f6d78c4cf86026dab1f5472f32cd
https://doi.org/10.1007/978-1-4471-2389-7_30
https://doi.org/10.1007/978-1-4471-2389-7_30
Autor:
Shamima Rahman, Kaustuv Bhattacharya, David R. Thorburn, Matthew Pitt, John Christodoulou, Monique M. Ryan, Yehani Wedatilake, Tyson L Ware, Manoj P. Menezes, Robert A. Ouvrier, Damian Clark, Michelle A. Farrar, Hugo Sampaio, Carolyn Ellaway
Publikováno v:
Mitochondrion. 30
Introduction Peripheral nerve involvement is common in mitochondrial disease but often unrecognised due to the prominent central nervous system features. Identification of the underlying neuropathy may assist syndrome classification, targeted genetic