Hasil Pencarian - Kenneth H. Fischbeck

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  1. 1
    Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics

    Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics oleh Barrington G. Burnett, Jaime Andrews, Srikanth Ranganathan, Kenneth H. Fischbeck, Nicholas A. Di Prospero

    Diterbitkan 2008-06-01
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  2. 2
    Connexin32 and X-linked Charcot–Marie–Tooth Disease

    Connexin32 and X-linked Charcot–Marie–Tooth Disease oleh Linda Jo Bone, Suzanne M. Deschênes, Rita J. Balice-Gordon, Kenneth H. Fischbeck, Steven S. Scherer

    Diterbitkan 1997-01-01
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  3. 3
    Safety and Tolerability of Strength Training in Spinal and Bulbar Muscular Atrophy: A Case Report

    Safety and Tolerability of Strength Training in Spinal and Bulbar Muscular Atrophy: A Case Report oleh Vincent Shieh, Cris Zampieri, Paul Stout, Galen O. Joe, Angela Kokkinis, Kenneth H. Fischbeck, Christopher Grunseich, Joseph A. Shrader

    Diterbitkan 2022-08-01
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  4. 4
    CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy

    CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy oleh Emily Foran, Deborah Y. Kwon, Jonathan H. Nofziger, Eveline S. Arnold, Matthew D. Hall, Kenneth H. Fischbeck, Barrington G. Burnett

    Diterbitkan 2016-04-01
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  5. 5
    Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease

    Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease oleh Naemeh Pourshafie, Ester Masati, Amber Lopez, Eric Bunker, Allison Snyder, Nancy A. Edwards, Audrey M. Winkelsas, Kenneth H. Fischbeck, Christopher Grunseich

    Diterbitkan 2022-10-01
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  6. 6
    Characterization of an Expanded Glutamine Repeat Androgen Receptor in a Neuronal Cell Culture System

    Characterization of an Expanded Glutamine Repeat Androgen Receptor in a Neuronal Cell Culture System oleh Brian P. Brooks, Henry L. Paulson, Diane E. Merry, Edgar F. Salazar-Grueso, Albert O. Brinkmann, Elizabeth M. Wilson, Kenneth H. Fischbeck

    Diterbitkan 1997-01-01
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  7. 7
    Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients

    Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients oleh Christopher Grunseich, Kristen Zukosky, Ilona R. Kats, Laboni Ghosh, George G. Harmison, Laura C. Bott, Carlo Rinaldi, Ke-lian Chen, Guibin Chen, Manfred Boehm, Kenneth H. Fischbeck

    Diterbitkan 2014-10-01
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  8. 8
    Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick Turn

    Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick Turn oleh Joseph A. Shrader, Ashwini Sansare, Vincent Shieh, Joshua G. Woolstenhulme, Julie Rekant, Rafael Jiménez-Silva, Galen O. Joe, Angela Kokkinis, Kenneth H. Fischbeck, Christopher Grunseich, Cristiane Zampieri

    Diterbitkan 2021-01-01
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  9. 9
    Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy

    Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy oleh Audrey M. Winkelsas, Christopher Grunseich, George G. Harmison, Katarzyna Chwalenia, Carlo Rinaldi, Suzan M. Hammond, Kory Johnson, Melissa Bowerman, Sukrat Arya, Kevin Talbot, Matthew J. Wood, Kenneth H. Fischbeck

    Diterbitkan 2021-03-01
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  10. 10
    Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.

    Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. oleh William W Motley, Kevin L Seburn, Mir Hussain Nawaz, Kathy E Miers, Jun Cheng, Anthony Antonellis, Eric D Green, Kevin Talbot, Xiang-Lei Yang, Kenneth H Fischbeck, Robert W Burgess

    Diterbitkan 2011-12-01
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  11. 11
    CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila

    CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila oleh Biljana Ermanoska, William W. Motley, Ricardo Leitão-Gonçalves, Bob Asselbergh, LaTasha H. Lee, Peter De Rijk, Kristel Sleegers, Tinne Ooms, Tanja A. Godenschwege, Vincent Timmerman, Kenneth H. Fischbeck, Albena Jordanova

    Diterbitkan 2014-08-01
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  12. 12
    Assessing Function and Endurance in Adults with Spinal and Bulbar Muscular Atrophy: Validity of the Adult Myopathy Assessment Tool

    Assessing Function and Endurance in Adults with Spinal and Bulbar Muscular Atrophy: Validity of the Adult Myopathy Assessment Tool oleh Michael O. Harris-Love, Lindsay Fernandez-Rhodes, Galen Joe, Joseph A. Shrader, Angela Kokkinis, Alison La Pean Kirschner, Sungyoung Auh, Cheunju Chen, Li Li, Ellen Levy, Todd E. Davenport, Nicholas A. Di Prospero, Kenneth H. Fischbeck

    Diterbitkan 2014-01-01
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  13. 13
    Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family

    Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family oleh Cheick A. K. Cissé, Lassana Cissé, Hamidou O. Ba, Oumar Samassékou, Assiatou Simaga, Abdoulaye Taméga, Salimata Diarra, Seybou H. Diallo, Thomas Coulibaly, Salimata Diallo, Abdoulaye Yalcouyé, Alassane B. Maiga, Mohamed Keita, Kenneth H. Fischbeck, Sékou F. Traoré, Cheick O. Guinto, Guida Landouré, from the H3Africa Consortium

    Diterbitkan 2021-05-01
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  14. 14
    AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia

    AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia oleh Salimata Diarra, Saikat Ghosh, Lassana Cissé, Thomas Coulibaly, Abdoulaye Yalcouyé, George Harmison, Salimata Diallo, Seybou H. Diallo, Oumar Coulibaly, Alice Schindler, Cheick A.K. Cissé, Alassane B. Maiga, Salia Bamba, Oumar Samassekou, Mustafa K. Khokha, Emily K. Mis, Saquib A. Lakhani, Frank X. Donovan, Steve Jacobson, Craig Blackstone, Cheick O. Guinto, Guida Landouré, Juan S. Bonifacino, Kenneth H. Fischbeck, Christopher Grunseich

    Diterbitkan 2024-08-01
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  15. 15
    Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings

    Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings oleh Lassana Cissé, Lassana Cissé, Salia Bamba, Salia Bamba, Seybou H. Diallo, Seybou H. Diallo, Weizhen Ji, Mohamed Emile Dembélé, Abdoulaye Yalcouyé, Abdoulaye Yalcouyé, Toumany Coulibaly, Ibrahima Traoré, Lauren Jeffries, Salimata Diarra, Salimata Diarra, Alassane Dit Baneye Maiga, Salimata Diallo, Karamoko Nimaga, Amadou Touré, Oumou Traoré, Mahamadou Kotioumbé, Emily Kathryn Mis, Cheick Abdel Kader Cissé, Cheick Oumar Guinto, Cheick Oumar Guinto, Kenneth H. Fischbeck, Mustafa K. Khokha, Saquib A. Lakhani, Guida Landouré, Guida Landouré

    Diterbitkan 2024-09-01
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  16. 16
    Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

    Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians? oleh Modibo Sangare, Ilo Dicko, Cheick Oumar Guinto, Adama Sissoko, Kekouta Dembele, Youlouza Coulibaly, Siaka Y. Coulibaly, Guida Landoure, Abdallah Diallo, Mamadou Dolo, Housseini Dolo, Boubacar Maiga, Moussa Traore, Mamadou Karembe, Kadiatou Traore, Amadou Toure, Mariam Sylla, Arouna Togora, Souleymane Coulibaly, Sékou Fantamady Traore, Brant Hendrickson, Katherine Bricceno, Alice B. Schindler, Angela Kokkinis, Katherine G. Meilleur, Hammadoun Ali Sangho, Brehima Diakite, Yaya Kassogue, Yaya Ibrahim Coulibaly, Barrington Burnett, Youssoufa Maiga, Seydou Doumbia, Kenneth H. Fischbeck

    Diterbitkan 2016-06-01
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