Ngā hua rapu - Gerald Pfeffer

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  1. 1
    Diagnosis and treatment of mitochondrial myopathies

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

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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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 mā Amarpreet Sangha, Michaela Quon, Gerald Pfeffer, Sarah-Michelle Orton

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  3. 3
    Diagnosis of muscle diseases presenting with early respiratory failure

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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  4. 4
    Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia

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

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Emerging therapies for mitochondrial disorders

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

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
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  6. 6
    Treatment for mitochondrial disorders

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

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
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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 mā Gerald Pfeffer, Ailbhe Burke, Patrick Yu‐Wai‐Man, D. A. S. Compston, Patrick F. Chinnery

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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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 mā Gerald Pfeffer, Grace Lee, Carly Sabine Pontifex, Roberto D. Fanganiello, Allison Peck, Conrad C. Weihl, Virginia Kimonis

    I whakaputaina 2022
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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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 mā David Davidson, Antoine Blanc, Dominic Filion, Huifen Wang, Paul Plut, Gerald Pfeffer, Michael D. Buschmann, Janet E. Henderson

    I whakaputaina 2005
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Rachel Sharkey, Filomeno Cortese, Bradley G. Goodyear, Lawrence Korngut, Sarah Jacob, Keith A. Sharkey, Sanjay Kalra, Minh Dang Nguyen, Richard Frayne, Gerald Pfeffer

    I whakaputaina 2024
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Mashiat Zaman, Govinda Sharma, Walaa Almutawa, Tyler Soule, Rasha Sabouny, Matthew Joel, A Mohan, Cole Chute, Jeffrey T. Joseph, Gerald Pfeffer, Timothy E. Shutt

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Exome sequencing in undiagnosed inherited and sporadic ataxias

    Exome sequencing in undiagnosed inherited and sporadic ataxias mā 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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Revisão
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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 mā 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

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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