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TRNT1 deficiency: clinical, biochemical and molecular genetic features.
Published in:
2016
By:
- Wedatilake, Yehani;
- Niazi, Rojeen;
- Fassone, Elisa;
- Powell, Christopher A.;
- Pearce, Sarah;
- Plagnol, Vincent;
- Saldanha, José W.;
- Kleta, Robert;
- Kling Chong, W.;
- Footitt, Emma;
- Mills, Philippa B.;
- Taanman, Jan-Willem;
- Minczuk, Michal;
- Clayton, Peter T.;
- Rahman, Shamima;
- Chong, W Kling
Publication type:
journal article
SURF1 deficiency: a multi-centre natural history study.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-96
By:
- Wedatilake, Yehani;
- Brown, Ruth M.;
- McFarland, Robert;
- Yaplito-Lee, Joy;
- Morris, Andrew A. M.;
- Champion, Mike;
- Jardine, Phillip E.;
- Clarke, Antonia;
- Thorburn, David R.;
- Taylor, Robert W.;
- Land, John M.;
- Forrest, Katharine;
- Dobbie, Angus;
- Simmons, Louise;
- Aasheim, Erlend T.;
- Ketteridge, David;
- Hanrahan, Donncha;
- Chakrapani, Anupam;
- Brown, Garry K.;
- Rahman, Shamima
Publication type:
Article
SURF1 deficiency: a multi-centre natural history study.
Published in:
2013
By:
- Wedatilake, Yehani;
- Brown, Ruth M;
- McFarland, Robert;
- Yaplito-Lee, Joy;
- Morris, Andrew A M;
- Champion, Mike;
- Jardine, Phillip E;
- Clarke, Antonia;
- Thorburn, David R;
- Taylor, Robert W;
- Land, John M;
- Forrest, Katharine;
- Dobbie, Angus;
- Simmons, Louise;
- Aasheim, Erlend T;
- Ketteridge, David;
- Hanrahan, Donncha;
- Chakrapani, Anupam;
- Brown, Garry K;
- Rahman, Shamima
Publication type:
journal article
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Published in:
2016
By:
- Reid, Emma S.;
- Papandreou, Apostolos;
- Drury, Suzanne;
- Boustred, Christopher;
- Yue, Wyatt W.;
- Wedatilake, Yehani;
- Beesley, Clare;
- Jacques, Thomas S.;
- Anderson, Glenn;
- Abulhoul, Lara;
- Broomfield, Alex;
- Cleary, Maureen;
- Grunewald, Stephanie;
- Varadkar, Sophia M.;
- Lench, Nick;
- Rahman, Shamima;
- Gissen, Paul;
- Clayton, Peter T.;
- Mills, Philippa B.
Publication type:
journal article
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.
Published in:
2015
By:
- Shahni, Rojeen;
- Cale, Catherine M.;
- Anderson, Glenn;
- Osellame, Laura D.;
- Hambleton, Sophie;
- Jacques, Thomas S.;
- Wedatilake, Yehani;
- Taanman, Jan-Willem;
- Chan, Emma;
- Qasim, Waseem;
- Plagnol, Vincent;
- Chalasani, Annapurna;
- Duchen, Michael R.;
- Gilmour, Kimberly C.;
- Rahman, Shamima
Publication type:
journal article
A multi‐omic approach to elucidate novel disease mechanisms and biomarkers for psychosis in Alzheimer's disease.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.070953
By:
- Pishva, Ehsan;
- Kouhsar, Morteza P;
- Weymouth, Luke Stephen;
- Smith, Adam R.;
- Wedatilake, Yehani;
- Torkamani, Ali;
- Sweet, Robert;
- Ballard, Clive G;
- Mill, Jonathan;
- Kofler, Julia;
- Bergh, Sverre;
- Selbæk, Geir;
- Lunnon, Katie;
- Creese, Byron
Publication type:
Article
An Epigenome‐wide association study of psychosis in Alzheimer's disease dorsolateral prefrontal cortex.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.079757
By:
- Kouhsar, Morteza P;
- Weymouth, Luke Stephen;
- Creese, Byron;
- Bergh, Sverre;
- Wedatilake, Yehani;
- Torkamani, Ali;
- Smith, Adam R.;
- Selbæk, Geir;
- Sweet, Robert;
- Ballard, Clive G;
- Mill, Jonathan;
- Kofler, Julia;
- Pishva, Ehsan;
- Lunnon, Katie
Publication type:
Article
An Epigenome‐wide association study of psychosis in Alzheimer's disease dorsolateral prefrontal cortex.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.079757
By:
- Kouhsar, Morteza P;
- Weymouth, Luke Stephen;
- Creese, Byron;
- Bergh, Sverre;
- Wedatilake, Yehani;
- Torkamani, Ali;
- Smith, Adam R.;
- Selbæk, Geir;
- Sweet, Robert;
- Ballard, Clive G;
- Mill, Jonathan;
- Kofler, Julia;
- Pishva, Ehsan;
- Lunnon, Katie
Publication type:
Article
Transcription‐based drug repurposing in Alzheimer disease psychosis.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.065938
By:
- Kouhsar, Morteza P;
- Creese, Byron;
- Weymouth, Luke Stephen;
- Smith, Adam R.;
- Bergh, Sverre;
- Wedatilake, Yehani;
- Selbæk, Geir;
- Torkamani, Ali;
- Mill, Jonathan;
- Ballard, Clive G;
- Sweet, Robert;
- Kofler, Julia;
- Pishva, Ehsan;
- Lunnon, Katie
Publication type:
Article
An Epigenome‐wide association study of psychosis in Alzheimer's disease dorsolateral prefrontal cortex.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 4, p. 1, doi. 10.1002/alz.065733
By:
- Weymouth, Luke Stephen;
- Kouhsar, Morteza P;
- Creese, Byron;
- Bergh, Sverre;
- Wedatilake, Yehani;
- Torkamani, Ali;
- Smith, Adam R.;
- Selbaek, Geir;
- Sweet, Robert;
- Ballard, Clive G;
- Mill, Jonathan;
- Kofler, Julia;
- Pishva, Ehsan;
- Lunnon, Katie
Publication type:
Article
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2334, doi. 10.1002/ajmg.a.36065
By:
- Shahni, RojeEN;
- Wedatilake, Yehani;
- Cleary, MaureEN A.;
- Lindley, Keith J.;
- Sibson, Keith R.;
- Rahman, Shamima
Publication type:
Article
Blood pressure trajectories over 35 years and dementia risk: A retrospective study: The HUNT study.
Published in:
Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.931715
By:
- Selbaek, Geir;
- Stuebs, Josephine;
- Engedal, Knut;
- Hachinski, Vladimir;
- Hestad, Knut;
- Trevino, Cathrine Selnes;
- Skjellegrind, Håvard;
- Wedatilake, Yehani;
- Strand, Bjørn Heine
Publication type:
Article
Tubular aggregates caused by serine active site containing 1 ( SERAC1) mutations in a patient with a mitochondrial encephalopathy.
Published in:
Neuropathology & Applied Neurobiology, 2015, v. 41, n. 3, p. 399, doi. 10.1111/nan.12190
By:
- Wedatilake, Yehani;
- Plagnol, Vincent;
- Anderson, Glenn;
- Paine, Simon M. L.;
- Clayton, Peter T.;
- Jacques, Thomas S.;
- Rahman, Shamima
Publication type:
Article
The clinical utility of two renin mass methods to detect primary hyperaldosteronism compared with renin activity.
Published in:
Annals of Clinical Biochemistry, 2011, v. 48, n. 3, p. 256, doi. 10.1258/acb.2010.010171
By:
- Wedatilake, Yehani N.;
- Scanlon, Mike J.;
- Barnes, Sophie C.
Publication type:
Article
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 865, doi. 10.1007/s10545-018-0147-6
By:
- Chesher, Douglas;
- Oddy, Michael;
- Darbar, Ulpee;
- Sayal, Parag;
- Casey, Adrian;
- Ryan, Aidan;
- Sechi, Annalisa;
- Simister, Charlotte;
- Waters, Aoife;
- Wedatilake, Yehani;
- Lachmann, Robin H.;
- Murphy, Elaine
Publication type:
Article
Pregnancy and its management in women with GSD type III - a single centre experience.
Published in:
Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 245, doi. 10.1007/s10545-011-9384-7
By:
- Ramachandran, Radha;
- Wedatilake, Yehani;
- Coats, Caroline;
- Walker, Fiona;
- Elliott, Perry;
- Lee, Philip;
- Lachmann, Robin;
- Murphy, Elaine
Publication type:
Article

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