LMA Gastro: A paediatric experience von Taylor, Charlotte L, Wilson, Steven R, Burgoyne, Laura L, Endlich, Yasmin

Volltext

Primary structure and variation of the T-cell receptor δ-chain from a marsupial, Macropus eugenii von Harrison, Gavan A., Taylor, Charlotte L., Miller, Robert D., Deane, Elizabeth M.

Volltext

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines von Mavraki, Eleni, Labrum, Robyn, Sergeant, Kate, Alston, Charlotte L, Woodward, Cathy, Smith, Conrad, Knowles, Charlotte V Y, Patel, Yogen, Hodsdon, Philip, Baines, Jack P, Blakely, Emma L, Polke, James, Taylor, Robert W, Fratter, Carl

Volltext

Recent Advances in Mitochondrial Disease von Craven, Lyndsey, Alston, Charlotte L, Taylor, Robert W, Turnbull, Doug M

Volltext

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease von Gorman, Gráinne S., Schaefer, Andrew M., Ng, Yi, Gomez, Nicholas, Blakely, Emma L., Alston, Charlotte L., Feeney, Catherine, Horvath, Rita, Yu-Wai-Man, Patrick, Chinnery, Patrick F., Taylor, Robert W., Turnbull, Douglass M., McFarland, Robert

Volltext

Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele von Middleton, Peter G, Mall, Marcus A, Dřevínek, Pavel, Lands, Larry C, McKone, Edward F, Polineni, Deepika, Ramsey, Bonnie W, Taylor-Cousar, Jennifer L, Tullis, Elizabeth, Vermeulen, François, Marigowda, Gautham, McKee, Charlotte M, Moskowitz, Samuel M, Nair, Nitin, Savage, Jessica, Simard, Christopher, Tian, Simon, Waltz, David, Xuan, Fengjuan, Rowe, Steven M, Jain, Raksha

Volltext

The genetics and pathology of mitochondrial disease von Alston, Charlotte L, Rocha, Mariana C, Lax, Nichola Z, Turnbull, Doug M, Taylor, Robert W

Volltext

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease von Grady, John P, Pickett, Sarah J, Ng, Yi Shiau, Alston, Charlotte L, Blakely, Emma L, Hardy, Steven A, Feeney, Catherine L, Bright, Alexandra A, Schaefer, Andrew M, Gorman, Gráinne S, McNally, Richard JQ, Taylor, Robert W, Turnbull, Doug M, McFarland, Robert

Volltext

Dependence of Cardiac Transverse Tubules on the BAR Domain Protein Amphiphysin II (BIN-1) von Caldwell, Jessica L, Smith, Charlotte E.R, Taylor, Rebecca F, Kitmitto, Ashraf, Eisner, David A, Dibb, Katharine M, Trafford, Andrew W

Volltext

Which clinical research questions are the most important? Development and preliminary validation of the Australia & New Zealand Musculoskeletal (ANZMUSC) Clinical Trials Network Re... von Taylor, William J, Willink, Robin, O'Connor, Denise A, Patel, Vinay, Bourne, Allison, Harris, Ian A, Whittle, Samuel L, Richards, Bethan, Clavisi, Ornella, Green, Sally, Hinman, Rana S, Maher, Chris G, Cahill, Ainslie, McPherson, Annie, Hewson, Charlotte, May, Suzie E, Walker, Bruce, Robinson, Philip C, Ghersi, Davina, Fitzpatrick, Jane, Winzenberg, Tania, Fallon, Kieran, Glasziou, Paul, Billot, Laurent, Buchbinder, Rachelle

Volltext

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations von Yarham, John W., Al-Dosary, Mazhor, Blakely, Emma L., Alston, Charlotte L., Taylor, Robert W., Elson, Joanna L., McFarland, Robert

Volltext

The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines von Alston, Charlotte L, Stenton, Sarah L, Hudson, Gavin, Prokisch, Holger, Taylor, Robert W

Volltext

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging von Lujan, Scott A., Longley, Matthew J., Humble, Margaret H., Lavender, Christopher A., Burkholder, Adam, Blakely, Emma L., Alston, Charlotte L., Gorman, Grainne S., Turnbull, Doug M., McFarland, Robert, Taylor, Robert W., Kunkel, Thomas A., Copeland, William C.

Volltext

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies von Metodiev, Metodi D., Thompson, Kyle, Alston, Charlotte L., Morris, Andrew A.M., He, Langping, Assouline, Zarah, Rio, Marlène, Bahi-Buisson, Nadia, Pyle, Angela, Griffin, Helen, Siira, Stefan, Filipovska, Aleksandra, Munnich, Arnold, Chinnery, Patrick F., McFarland, Robert, Rötig, Agnès, Taylor, Robert W.

Volltext

Community transmission and viral load kinetics of the SARS-CoV-2 delta (B.1.617.2) variant in vaccinated and unvaccinated individuals in the UK: a prospective, longitudinal, cohort... von Singanayagam, Anika, Hakki, Seran, Dunning, Jake, Madon, Kieran J, Crone, Michael A, Koycheva, Aleksandra, Derqui-Fernandez, Nieves, Barnett, Jack L, Whitfield, Michael G, Varro, Robert, Charlett, Andre, Kundu, Rhia, Fenn, Joe, Cutajar, Jessica, Quinn, Valerie, Conibear, Emily, Barclay, Wendy, Freemont, Paul S, Taylor, Graham P, Ahmad, Shazaad, Zambon, Maria, Ferguson, Neil M, Lalvani, Ajit, Badhan, Anjna, Dustan, Simon, Tejpal, Chitra, Ketkar, Anjeli V, Narean, Janakan Sam, Hammett, Sarah, McDermott, Eimear, Pillay, Timesh, Houston, Hamish, Luca, Constanta, Samuel, Jada, Bremang, Samuel, Evetts, Samuel, Poh, John, Anderson, Charlotte, Jackson, David, Miah, Shahjahan, Ellis, Joanna, Lackenby, Angie

Volltext

VX-659–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles von Davies, Jane C, Moskowitz, Samuel M, Brown, Cynthia, Horsley, Alexander, Mall, Marcus A, McKone, Edward F, Plant, Barry J, Prais, Dario, Ramsey, Bonnie W, Taylor-Cousar, Jennifer L, Tullis, Elizabeth, Uluer, Ahmet, McKee, Charlotte M, Robertson, Sarah, Shilling, Rebecca A, Simard, Christopher, Van Goor, Fredrick, Waltz, David, Xuan, Fengjuan, Young, Tim, Rowe, Steven M

Volltext

Phylogenetic and geographic distribution of nickel hyperaccumulation in neotropical Psychotria von McCartha, Grace L., Taylor, Charlotte M., Ent, Antony, Echevarria, Guillaume, Navarrete Gutiérrez, Dulce M., Pollard, A. Joseph

Volltext

VX-445–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles von Keating, Dominic, Marigowda, Gautham, Burr, Lucy, Daines, Cori, Mall, Marcus A, McKone, Edward F, Ramsey, Bonnie W, Rowe, Steven M, Sass, Laura A, Tullis, Elizabeth, McKee, Charlotte M, Moskowitz, Samuel M, Robertson, Sarah, Savage, Jessica, Simard, Christopher, Van Goor, Fredrick, Waltz, David, Xuan, Fengjuan, Young, Tim, Taylor-Cousar, Jennifer L

Volltext

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression von Lim, Albert Z., Ng, Yi Shiau, Blain, Alasdair, Jiminez‐Moreno, Cecilia, Alston, Charlotte L., Nesbitt, Victoria, Simmons, Louise, Santra, Saikat, Wassmer, Evangeline, Blakely, Emma L., Turnbull, Doug M., Taylor, Robert W., Gorman, Gráinne S., McFarland, Robert

Volltext

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy von Sommerville, Ewen W, Ng, Yi Shiau, Alston, Charlotte L, Dallabona, Cristina, Gilberti, Micol, He, Langping, Knowles, Charlotte, Chin, Sophie L, Schaefer, Andrew M, Falkous, Gavin, Murdoch, David, Longman, Cheryl, de Visser, Marianne, Bindoff, Laurence A, Rawles, John M, Dean, John C. S, Petty, Richard K, Farrugia, Maria E, Haack, Tobias B, Prokisch, Holger, McFarland, Robert, Turnbull, Douglass M, Donnini, Claudia, Taylor, Robert W, Gorman, Gráinne S

Volltext