Resultats de la cerca - Carl Fratter

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  1. 1
    EMQN best practice guidelines for genetic testing in dystrophinopathies

    EMQN best practice guidelines for genetic testing in dystrophinopathies per Carl Fratter, Raymond Dalgleish, Stephanie Allen, Rosário Santos, Stephen Abbs, Sylvie Tuffery‐Giraud, Alessandra Ferlini

    Publicat 2020
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  2. 2
    Accurate Detection and Quantitation of Heteroplasmic Mitochondrial Point Mutations by Pyrosequencing

    Accurate Detection and Quantitation of Heteroplasmic Mitochondrial Point Mutations by Pyrosequencing per Helen White, V.J. Durston, A Seller, Carl Fratter, John F. Harvey, Nicholas C.P. Cross

    Publicat 2005
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  3. 3
    A Missense<i>Glial Cells Missing Homolog B</i>(<i>GCMB</i>) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism

    A Missense<i>Glial Cells Missing Homolog B</i>(<i>GCMB</i>) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism per Samantha Mirczuk, Michael R. Bowl, M. Andrew Nesbit, Treena Cranston, Carl Fratter, Jeremy Allgrove, Caroline Brain, Rajesh V. Thakker

    Publicat 2010
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  4. 4
    Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

    Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations per Neil Ashley, A O'Rourke, Conrad Smith, Susan M. Adams, Vasantha Gowda, Massimo Zeviani, Garry K. Brown, Carl Fratter, Joanna Poulton

    Publicat 2008
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  5. 5
    Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice

    Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice per Alireza Morovat, Gayani Weerasinghe, Victoria Nesbitt, Monika Hofer, Thomas Agnew, G. Quaghebeur, Kate Sergeant, Carl Fratter, Nishan Guha, Mehdi Mirzazadeh, Joanna Poulton

    Publicat 2017
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  6. 6
    A national perspective on prenatal testing for mitochondrial disease

    A national perspective on prenatal testing for mitochondrial disease per Victoria Nesbitt, Charlotte L. Alston, Emma L. Blakely, Carl Fratter, Catherine Feeney, Joanna Poulton, Garry K. Brown, Douglass M. Turnbull, Robert W. Taylor, Robert McFarland

    Publicat 2014
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  7. 7
    Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

    Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia per Alejandro Horga, Robert D. S. Pitceathly, Julian Blake, Catherine E. Woodward, Pedro Zapater, Carl Fratter, Ese Mudanohwo, Gordon T. Plant, Henry Houlden, Mary G. Sweeney, Michael G. Hanna, Mary M. Reilly

    Publicat 2014
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  8. 8
    Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

    Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease per Alexander Broomfield, Mary G. Sweeney, Cathy E. Woodward, Carl Fratter, Andrew M. Morris, James V. Leonard, Lara Abulhoul, Stephanie Grünewald, Peter T. Clayton, Michael G. Hanna, Joanna Poulton, Shamima Rahman

    Publicat 2014
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  9. 9
    Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy

    Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy per Iulia Blesneac, Andreas C. Themistocleous, Carl Fratter, Linus J. Conrad, Juan D. Ramirez, James J. Cox, Solomon Tesfaye, Pallai Shillo, Andrew S.C. Rice, Stephen J. Tucker, David Bennett

    Publicat 2017
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  10. 10
    Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure

    Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure per Patrick McKiernan, Sarah Ball, Saikat Santra, Katherine Foster, Carl Fratter, Joanna Poulton, Kate Craig, Robert McFarland, Shamima Rahman, Iain P. Hargreaves, Girish Gupte, Khalid Sharif, Robert W. Taylor

    Publicat 2016
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  11. 11
    Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

    Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease per Johanna Uusimaa, Heinz Jungbluth, Carl Fratter, Guido Crisponi, Longhua Feng, Massimo Zeviani, Imelda Hughes, Eileen P. Treacy, Jacqueline Birks, Grace Brown, Caroline A. Sewry, Michael McDermott, F. Muntoni, Joanna Poulton

    Publicat 2011
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  12. 12
    A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

    A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease per Sanjeev Rajakulendran, Robert D. S. Pitceathly, Jan‐Willem Taanman, Harry Costello, Mary G. Sweeney, Cathy E. Woodward, Zane Jaunmuktane, Janice L. Holton, Thomas S. Jacques, Brian Harding, Carl Fratter, Michael G. Hanna, Shamima Rahman

    Publicat 2016
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  13. 13
    The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

    The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations per Omar Hikmat, Charalampos Tzoulis, W.K. Chong, Latifa Chentouf, Claus Klingenberg, Carl Fratter, Lucinda Carr, Prab Prabhakar, N. Kumaraguru, Paul Gissen, J. Helen Cross, Thomas S. Jacques, Jan‐Willem Taanman, Laurence A. Bindoff, Shamima Rahman

    Publicat 2017
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  14. 14
    Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

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

    Publicat 2022
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  15. 15
    OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy

    OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy per Mario K. Shammas, Xiaoping Huang, Beverly P Wu, Evelyn Fessler, Insung Y Song, Nicholas P Randolph, Yan Li, Christopher K. E. Bleck, Danielle Springer, Carl Fratter, Inês A. Barbosa, Andrew F. Powers, Pedro M. Quirós, Carlos López‐Otín, Lucas T. Jae, Joanna Poulton, Derek P. Narendra

    Publicat 2022
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  16. 16
    <i>RRM2B</i> mutations are frequent in familial PEO with multiple mtDNA deletions

    <i>RRM2B</i> mutations are frequent in familial PEO with multiple mtDNA deletions per Carl Fratter, Pravrutha Raman, Charlotte L. Alston, Emma L. Blakely, Kelly Jean Thomas Craig, Conrad Smith, Julie Evans, A Seller, Birgit Czermin, Michael G. Hanna, Joanna Poulton, Charlotte Brierley, T.G. Staunton, Peter D. Turnpenny, Andrew M. Schaefer, Patrick F. Chinnery, Rita Horváth, Douglass M. Turnbull, Gráinne S. Gorman, Rachael W. Taylor

    Publicat 2011
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  17. 17
    The clinical, histochemical, and molecular spectrum of <i>PEO1</i> (Twinkle)-linked adPEO

    The clinical, histochemical, and molecular spectrum of <i>PEO1</i> (Twinkle)-linked adPEO per Carl Fratter, Gráinne S. Gorman, Joanna D. Stewart, M. Buddles, Conrad Smith, Julie Evans, A Seller, Joanna Poulton, M. Roberts, Michael G. Hanna, Shamima Rahman, Salah Omer, Thomas Klopstock, Benedikt Schoser, Cornelia Kornblum, Birgit Czermin, Bryan Lecky, Emma L. Blakely, Kelly Jean Thomas Craig, Patrick F. Chinnery, Douglass M. Turnbull, Rita Horváth, Rachael W. Taylor

    Publicat 2010
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  18. 18
    Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

    Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics per Robert D. S. Pitceathly, Conrad Smith, Carl Fratter, Charlotte L. Alston, Langping He, Kate Craig, Emma L. Blakely, Julie Evans, John M. Taylor, Zarfishan Shabbir, Marcus Deschauer, Ute Pohl, Mark Roberts, Matthew Jackson, Christopher Halfpenny, Peter D. Turnpenny, Peter Lunt, Michael G. Hanna, Andrew M. Schaefer, Robert McFarland, Rita Horváth, Patrick F. Chinnery, Douglass M. Turnbull, Joanna Poulton, Robert W. Taylor, Gráinne S. Gorman

    Publicat 2012
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  19. 19
    Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

    Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites per Fadil Hannan, M. Andrew Nesbit, C. Zhang, Treena Cranston, Alan Curley, Brian Harding, Carl Fratter, Nigel Rust, P. T. Christie, J Turner, Manuel C. Lemos, Michael R. Bowl, R. Bouillon, Caroline Brain, Nicola Bridges, Christine Burren, J. M. C. Connell, Heike Jung, Eileen Marks, D. McCredie, Zulf Mughal, Christine Rodda, Sherida E. Tollefsen, Edward M. Brown, Jing Yang, Rajesh V. Thakker

    Publicat 2012
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  20. 20
    Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

    Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes per Raquel Montero, Manuela Grazina, Ester López‐Gallardo, Julio Montoya, Paz Briones, Aleix Navarro‐Sastre, John M. Land, Iain P. Hargreaves, Rafael Artuch, María del Mar O’Callaghan, Cristina Jou, C. Jimenez‐Mallebrera, Núria Bujan, Mercè Pineda, Àngels García‐Cazorla, A. Nascimento, Belén Pérez‐Dueñas, Eduardo Ruiz‐Pesini, Carl Fratter, Leonardo Salviati, Marta Simões, Cândida Mendes, Maria João Santos, Luísa Diogo, Paula Garcia, Plácido Navas

    Publicat 2013
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