Hasil Pencarian - A. Reghan Foley

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  1. 1
    LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

    LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness oleh Anna Sarkozy, A. Reghan Foley, Alberto A. Zambon, Carsten G. Bönnemann, Francesco Muntoni, Francesco Muntoni

    Diterbitkan 2020-08-01
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  2. 2
    Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management

    Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management oleh Kristin L. Fraser, Scott Wong, A. Reghan Foley, Sameer Chhibber, Carsten G. Bönnemann, Daniel J. Lesser, Carla Grosmann, Anne Rutkowski

    Diterbitkan 2017-06-01
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  3. 3
    Hypoglycemia in patients with congenital muscle disease

    Hypoglycemia in patients with congenital muscle disease oleh Leslie H. Hayes, Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, Meganne E. Leach, Rachel Alvarez, Anne Rutkowski, Natalie D. Shaw, A. Reghan Foley, Carsten G. Bönnemann

    Diterbitkan 2020-02-01
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  4. 4
    Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies

    Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies oleh Eleonora Guadagnin, Payam Mohassel, Kory R. Johnson, Lin Yang, Mariarita Santi, Prech Uapinyoying, Jahannaz Dastgir, Ying Hu, Allissa Dillmann, Mark R. Cookson, A. Reghan Foley, Carsten G. Bönnemann

    Diterbitkan 2021-11-01
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  5. 5
    A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

    A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report oleh Nirmala Dushyanthi Sirisena, U. M. Jayami Eshana Samaranayake, Osorio Lopes Abath Neto, A. Reghan Foley, B. A. P. Sajeewani Pathirana, Nilaksha Neththikumara, C. Sampath Paththinige, Pyara Rathnayake, Sandra Donkervoort, Carsten G. Bönnemann, Vajira H. W. Dissanayake

    Diterbitkan 2021-03-01
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  6. 6
    Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

    Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications oleh Janelle Geist Hauserman, Chamindra G. Laverty, Sandra Donkervoort, Ying Hu, Sarah Silverstein, Sarah B. Neuhaus, Dimah Saade, Gabrielle Vaughn, Denise Malicki, Rupleen Kaur, Yuesheng Li, Yan Luo, Poching Liu, Patrick Burr, A. Reghan Foley, Payam Mohassel, Carsten G. Bönnemann

    Diterbitkan 2024-04-01
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  7. 7
    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease oleh 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

    Diterbitkan 2013-06-01
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  8. 8
    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease oleh 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

    Diterbitkan 2013-07-01
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  9. 9
    A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy

    A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy oleh Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort, Soledad Monges, Julie S. Cohen, Doris G. Leung, Francina Munell, Carlos Ortez, Angel Sánchez‐Montáñez, Peter Karachunski, John Brandsema, Livija Medne, Vinay Chaudhry, Giorgio Tasca, A. Reghan Foley, Bjarne Udd, Andrew E. Arai, Glenn A. Walter, Carsten G. Bönnemann

    Diterbitkan 2023-08-01
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  10. 10
    Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

    Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans oleh Laura K. Case, Jaquette Liljencrantz, Nicholas Madian, Aaron Necaise, Justin Tubbs, Micaela McCall, Megan L. Bradson, Marcin Szczot, Mark H. Pitcher, Nima Ghitani, Eleni Frangos, Jonathan Cole, Diana Bharucha-Goebel, Dimah Saade, Tracy Ogata, Sandra Donkervoort, A. Reghan Foley, Carsten G. Bönnemann, Håkan Olausson, M. Catherine Bushnell, Alexander T. Chesler

    Diterbitkan 2021-01-01
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  11. 11
    Dominant collagen XII mutations cause a distal myopathy

    Dominant collagen XII mutations cause a distal myopathy oleh Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J. Sumner, P. James B. Dyck, Klaas J. Wierenga, Gihan Tennekoon, Richard S. Finkel, Jiani Chen, Thomas L. Winder, Nathan P. Staff, A. Reghan Foley, Manuel Koch, Carsten G. Bönnemann

    Diterbitkan 2019-10-01
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  12. 12
    Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trialResearch in context

    Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trialResearch in context oleh Joshua J. Todd, Tokunbor A. Lawal, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Minal S. Jain, Melissa R. Waite, Victoria Biancavilla, Shavonne Pocock, Kia Brooks, Christopher J. Mendoza, Gina Norato, Ken Cheung, Willa Riekhof, Pooja Varma, Claudia Colina-Prisco, Magalie Emile-Backer, Katherine G. Meilleur, Andrew R. Marks, Yael Webb, Eugene E. Marcantonio, A. Reghan Foley, Carsten G. Bönnemann, Payam Mohassel

    Diterbitkan 2024-02-01
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  13. 13
    Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

    Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy oleh Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network, Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann

    Diterbitkan 2024-03-01
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  14. 14
    BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

    BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy oleh Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake

    Diterbitkan 2021-12-01
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  15. 15
    Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

    Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy oleh Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor

    Diterbitkan 2022-04-01
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