Resultats de la cerca - Gerald Pfeffer

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  1. 1
    Diagnosis and treatment of mitochondrial myopathies

    Diagnosis and treatment of mitochondrial myopathies per Gerald Pfeffer, Patrick F. Chinnery

    Publicat 2011
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  2. 2
    The Role of Vitamin D in Neuroprotection in Multiple Sclerosis: An Update

    The Role of Vitamin D in Neuroprotection in Multiple Sclerosis: An Update per Amarpreet Sangha, Michaela Quon, Gerald Pfeffer, Sarah-Michelle Orton

    Publicat 2023
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  3. 3
    Diagnosis of muscle diseases presenting with early respiratory failure

    Diagnosis of muscle diseases presenting with early respiratory failure per Gerald Pfeffer, Marcus Povitz, G J Gibson, Patrick F. Chinnery

    Publicat 2014
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  4. 4
    Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia

    Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia per Gerald Pfeffer, Sandra Sirrs, N. Kevin Wade, Michelle M. Mezei

    Publicat 2011
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  5. 5
    Emerging therapies for mitochondrial disorders

    Emerging therapies for mitochondrial disorders per Helen Nightingale, Gerald Pfeffer, David Bargiela, Rita Horváth, Patrick F. Chinnery

    Publicat 2016
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  6. 6
    Treatment for mitochondrial disorders

    Treatment for mitochondrial disorders per Gerald Pfeffer, Kari Majamaa, Douglass M. Turnbull, David R. Thorburn, Patrick F. Chinnery

    Publicat 2012
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  7. 7
    Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations

    Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations per Gerald Pfeffer, Ailbhe Burke, Patrick Yu‐Wai‐Man, D. A. S. Compston, Patrick F. Chinnery

    Publicat 2013
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  8. 8
    Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis

    Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis per Gerald Pfeffer, Grace Lee, Carly Sabine Pontifex, Roberto D. Fanganiello, Allison Peck, Conrad C. Weihl, Virginia Kimonis

    Publicat 2022
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  9. 9
    Fibroblast Growth Factor (FGF) 18 Signals through FGF Receptor 3 to Promote Chondrogenesis

    Fibroblast Growth Factor (FGF) 18 Signals through FGF Receptor 3 to Promote Chondrogenesis per David Davidson, Antoine Blanc, Dominic Filion, Huifen Wang, Paul Plut, Gerald Pfeffer, Michael D. Buschmann, Janet E. Henderson

    Publicat 2005
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  10. 10
    Longitudinal analysis of glymphatic function in amyotrophic lateral sclerosis and primary lateral sclerosis

    Longitudinal analysis of glymphatic function in amyotrophic lateral sclerosis and primary lateral sclerosis per Rachel Sharkey, Filomeno Cortese, Bradley G. Goodyear, Lawrence Korngut, Sarah Jacob, Keith A. Sharkey, Sanjay Kalra, Minh Dang Nguyen, Richard Frayne, Gerald Pfeffer

    Publicat 2024
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  11. 11
    The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation

    The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation per Mashiat Zaman, Govinda Sharma, Walaa Almutawa, Tyler Soule, Rasha Sabouny, Matthew Joel, A Mohan, Cole Chute, Jeffrey T. Joseph, Gerald Pfeffer, Timothy E. Shutt

    Publicat 2025
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  12. 12
    <i>SPG7</i> mutations are a common cause of undiagnosed ataxia

    <i>SPG7</i> mutations are a common cause of undiagnosed ataxia per Gerald Pfeffer, Angela Pyle, Helen Griffin, Jack W. Miller, Valerie Wilson, Lisa Turnbull, Katherine A. Fawcett, David Sims, Gail Eglon, Marios Hadjivassiliou, Rita Horváth, Andrea H. Németh, Patrick F. Chinnery

    Publicat 2015
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  13. 13
    Identification of a mosaic <i>MTOR</i> variant in purified neuronal <scp>DNA</scp> in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique

    Identification of a mosaic <i>MTOR</i> variant in purified neuronal <scp>DNA</scp> in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique per Karl Martin Klein, Rumika Mascarenhas, Daria Merrikh, Maryam Khanbabaei, Tatiana Maroilley, Navprabhjot Kaur, Yiping Liu, Tyler Soule, Minette Manalo, Goichiro Tamura, Julia Jacobs, Walter Hader, Gerald Pfeffer, Maja Tarailo‐Graovac

    Publicat 2024
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  14. 14
    Exome sequencing in undiagnosed inherited and sporadic ataxias

    Exome sequencing in undiagnosed inherited and sporadic ataxias per Angela Pyle, Tania Smertenko, David Bargiela, Helen Griffin, Jennifer Duff, Marie Appleton, Konstantinos Douroudis, Gerald Pfeffer, Mauro Santibanez‐Koref, Gail Eglon, Patrick Yu‐Wai‐Man, Venkateswaran Ramesh, Rita Horváth, Patrick F. Chinnery

    Publicat 2014
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  15. 15
    Detecting somatic variants in purified brain <scp>DNA</scp> obtained from surgically implanted depth electrodes in epilepsy

    Detecting somatic variants in purified brain <scp>DNA</scp> obtained from surgically implanted depth electrodes in epilepsy per Rumika Mascarenhas, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Navid Ghaderi, Tatiana Maroilley, Yiping Liu, Tyler Soule, Juan Pablo Appendino, Julia Jacobs, Samuel Wiebe, Walter Hader, Gerald Pfeffer, Maja Tarailo‐Graovac, Karl Martin Klein

    Publicat 2025
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  16. 16
    Titin mutation segregates with hereditary myopathy with early respiratory failure

    Titin mutation segregates with hereditary myopathy with early respiratory failure per Gerald Pfeffer, Hannah R. Elliott, Helen Griffin, Rita Barresi, James Miller, Julie Marsh, Anni Evilä, Anna Vihola, Peter Hackman, Volker Straub, D J Dick, Rita Horváth, Mauro Santibanez‐Koref, Bjarne Udd, Patrick F. Chinnery

    Publicat 2012
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  17. 17
    Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28

    Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28 per Gráinne S. Gorman, Gerald Pfeffer, Helen Griffin, Emma L. Blakely, Marzena Kurzawa‐Akanbi, Jessica Gabriel, Kamil S. Sitarz, M. Roberts, Benedikt Schoser, Angela Pyle, Andrew M. Schaefer, Robert McFarland, Douglass M. Turnbull, Rita Horváth, Patrick F. Chinnery, Robert W. Taylor

    Publicat 2014
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  18. 18
    The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy

    The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy per Walaa Almutawa, Christopher Smith, Rasha Sabouny, Ryan B. Smit, Tian Zhao, Rachel Wong, Laurie Lee-Glover, Justine Desrochers-Goyette, Hema Saranya Ilamathi, Oksana Suchowersky, Marc Germain, Paul E. Mains, Jillian S. Parboosingh, Gerald Pfeffer, A. Micheil Innes, Timothy E. Shutt

    Publicat 2019
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  19. 19
    New treatments for mitochondrial disease—no time to drop our standards

    New treatments for mitochondrial disease—no time to drop our standards per Gerald Pfeffer, Rita Horváth, Thomas Klopstock, Vamsi K. Mootha, Anu Suomalainen, Saskia Koene, Michio Hirano, Massimo Zeviani, Laurence A. Bindoff, Patrick Yu‐Wai‐Man, Michael G. Hanna, Valério Carelli, Robert McFarland, Kari Majamaa, Douglass M. Turnbull, Jan Smeitink, Patrick F. Chinnery

    Publicat 2013
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  20. 20
    Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

    Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure per Gerald Pfeffer, Rita Barresi, Ian Wilson, Steven Hardy, Helen Griffin, Judith A. Hudson, Hannah R. Elliott, Aravind Ramesh, Aleksandar Radunović, J. Winer, S. Vaidya, Ayush T. Raman, Mark Busby, Maria Elena Farrugia, and Xie Ming, C. M. Everett, Hedley Emsley, Rita Horváth, Volker Straub, K. Bushby, Hanns Lochmüller, Patrick F. Chinnery, Andrea Sarkozy

    Publicat 2013
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