Rezultati - Gerald Pfeffer

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  1. 1
    Diagnosis and treatment of mitochondrial myopathies

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

    Izdano 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 od Amarpreet Sangha, Michaela Quon, Gerald Pfeffer, Sarah-Michelle Orton

    Izdano 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 od Gerald Pfeffer, Marcus Povitz, G J Gibson, Patrick F. Chinnery

    Izdano 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 od Gerald Pfeffer, Sandra Sirrs, N. Kevin Wade, Michelle M. Mezei

    Izdano 2011
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  5. 5
    Emerging therapies for mitochondrial disorders

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

    Izdano 2016
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  6. 6
    Treatment for mitochondrial disorders

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

    Izdano 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 od Gerald Pfeffer, Ailbhe Burke, Patrick Yu‐Wai‐Man, D. A. S. Compston, Patrick F. Chinnery

    Izdano 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 od Gerald Pfeffer, Grace Lee, Carly Sabine Pontifex, Roberto D. Fanganiello, Allison Peck, Conrad C. Weihl, Virginia Kimonis

    Izdano 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 od David Davidson, Antoine Blanc, Dominic Filion, Huifen Wang, Paul Plut, Gerald Pfeffer, Michael D. Buschmann, Janet E. Henderson

    Izdano 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 od Rachel Sharkey, Filomeno Cortese, Bradley G. Goodyear, Lawrence Korngut, Sarah Jacob, Keith A. Sharkey, Sanjay Kalra, Minh Dang Nguyen, Richard Frayne, Gerald Pfeffer

    Izdano 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 od Mashiat Zaman, Govinda Sharma, Walaa Almutawa, Tyler Soule, Rasha Sabouny, Matthew Joel, A Mohan, Cole Chute, Jeffrey T. Joseph, Gerald Pfeffer, Timothy E. Shutt

    Izdano 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 od 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

    Izdano 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 od 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

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

    Exome sequencing in undiagnosed inherited and sporadic ataxias od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 2013
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