檢索結果 - Kishore R. Kumar

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  1. 1
    Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

    Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome 由 Stephen Tisch, Kishore R. Kumar

    出版 2021
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  2. 2
    Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia

    Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia 由 Lydia Saputra, Kishore R. Kumar

    出版 2021
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  3. 3
    Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing

    Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing 由 Fangzhi Jia, Avi Fellner, Kishore R. Kumar

    出版 2022
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  4. 4
    Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia

    Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia 由 Thomas Wirth, Kishore R. Kumar, Michael Zech

    出版 2025
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  5. 5
    New insights into the complex role of mitochondria in Parkinson’s disease

    New insights into the complex role of mitochondria in Parkinson’s disease 由 Anne Grünewald, Kishore R. Kumar, Carolyn M. Sue

    出版 2018
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  6. 6
    Targeting Mitochondrial Impairment in Parkinson's Disease: Challenges and Opportunities

    Targeting Mitochondrial Impairment in Parkinson's Disease: Challenges and Opportunities 由 Jannik Prasuhn, Ryan L. Davis, Kishore R. Kumar

    出版 2021
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  7. 7
    Next-Generation Sequencing and Emerging Technologies

    Next-Generation Sequencing and Emerging Technologies 由 Kishore R. Kumar, Mark J. Cowley, Ryan L. Davis

    出版 2019
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  8. 8
    An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

    An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics 由 Sanjog R. Chintalaphani, Sandy S. Pineda, Ira W. Deveson, Kishore R. Kumar

    出版 2021
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  9. 9
    Genetic Testing of Movements Disorders: A Review of Clinical Utility

    Genetic Testing of Movements Disorders: A Review of Clinical Utility 由 Dennis Yeow, Laura Ivete Rudaks, Sue‐Faye Siow, Ryan L. Davis, Kishore R. Kumar

    出版 2024
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  10. 10
    An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches

    An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches 由 Laura Ivete Rudaks, Dennis Yeow, Karl Ng, Ira W. Deveson, Marina Kennerson, Kishore R. Kumar

    出版 2024
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  11. 11
    Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia

    Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia 由 Nimeshan Geevasinga, Parvathi Menon, Carolyn M. Sue, Kishore R. Kumar, Karl Ng, Con Yiannikas, Matthew C. Kiernan, Steve Vucic

    出版 2015
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  12. 12
    Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

    Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders 由 Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L. M. Reis, Sanjog R. Chintalaphani, Pak Leng Cheong, Hasindu Gamaarachchi, Lisa Worgan, Kate Ahmad, Mike Hayes, Andrew Hannaford, Samuel Kim, Victor S.C. Fung, G. Michael Halmágyi, Andrew J. Martin, David Manser, Michel Tchan, Kishore R. Kumar, Marina Kennerson, Ira W. Deveson, Kishore R. Kumar

    出版 2025
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  13. 13
    Age Cutoff for Early‐Onset Parkinson's Disease: Recommendations from the International Parkinson and Movement Disorder Society Task Force on Early Onset Parkinson's Disease

    Age Cutoff for Early‐Onset Parkinson's Disease: Recommendations from the International Parkinson and Movement Disorder Society Task Force on Early Onset Parkinson's Disease 由 Raja Mehanna, Katarzyna Śmiłowska, Jori Fleisher, Bart Post, Taku Hatano, Maria Elisa Pimentel Piemonte, Kishore R. Kumar, Victor McConvey, Baorong Zhang, Eng‐King Tan, Rodolfo Savica

    出版 2022
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  14. 14
    mity: A Highly Sensitive Mitochondrial Variant Analysis Pipeline for Whole Genome Sequencing Data

    mity: A Highly Sensitive Mitochondrial Variant Analysis Pipeline for Whole Genome Sequencing Data 由 Clare Puttick, Ryan L. Davis, Kishore R. Kumar, Julian M.W. Quinn, Trent Zeng, Christian Fares, Mark Pinese, David M. Thomas, Marcel E. Dinger, Carolyn M. Sue, Mark J. Cowley

    出版 2024
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  15. 15
    Unmet Need in Early-Onset Parkinson’s Disease: Deep Brain Stimulation and Pregnancy

    Unmet Need in Early-Onset Parkinson’s Disease: Deep Brain Stimulation and Pregnancy 由 Katarzyna Śmiłowska, Raja Mehanna, Jori Fleisher, Roy N. Alcalay, Kishore R. Kumar, Connie Marras, Annelien M. Oosterbaan, Bart Post, Owen A. Ross, Maria Elisa Pimentel Piemonte, Valérie Fraix, Elena Moro, Eng‐King Tan, Rodolfo Savica

    出版 2024
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  16. 16
    Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

    Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis 由 Ryan L. Davis, Kishore R. Kumar, Clare Puttick, Christina Liang, Kate Ahmad, Fabienne Edema‐Hildebrand, Jin‐Sung Park, André E. Minoche, Velimir Gayevskiy, Amali Mallawaarachchi, John Christodoulou, Deborah Schofield, Marcel E. Dinger, Mark J. Cowley, Carolyn M. Sue

    出版 2022
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  17. 17
    Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

    Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update 由 Lara M. Lange, Paulina González-Latapí, Rajasumi Rajalingam, Marina A.J. Tijssen, Darius Ebrahimi‐Fakhari, Carolin Gabbert, Christos Ganos, Rhia Ghosh, Kishore R. Kumar, Anthony E. Lang, Malco Rossi, Sterre van der Veen, Bart P.C. van de Warrenburg, Thomas T. Warner, Katja Lohmann, Christine Klein, Connie Marras

    出版 2022
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  18. 18
    Global Perspectives on Returning Genetic Research Results in Parkinson's Disease

    Global Perspectives on Returning Genetic Research Results in Parkinson's Disease 由 Ai Huey Tan, Paula Saffie Awad, Artur Francisco Schumacher Schuh, Shen‐Yang Lim, Harutyun Madoev, Azlina Ahmad, Justin Solle, Claire Wegel, Maria Leila M. Doquenia, Sumit Dey, María Teresa Periñán, Mary B. Makarious, Brian P. Fiske, Huw R. Morris, Alastair Noyce, Roy N. Alcalay, Kishore R. Kumar, Christine Klein

    出版 2024
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  19. 19
    Mutations in<i>GNAL</i>

    Mutations in<i>GNAL</i> 由 Kishore R. Kumar, Katja Lohmann, Ikuo Masuho, Ryosuke Miyamoto, A. Ferbert, Thora Lohnau, Meike Kasten, Johann Hagenah, Norbert Brüggemann, Julia Gräf, Alexander Münchau, Vladimir Kostić, Carolyn M. Sue, Aloysius Domingo, Raymond L. Rosales, Lilian V. Lee, Karen Freimann, Ana Westenberger, Youhei Mukai, Toshitaka Kawarai, Ryuji Kaji, Christine Klein, Kirill A. Martemyanov, Alexander Schmidt

    出版 2014
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  20. 20
    Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

    Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing 由 Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, James M. Ferguson, Sandy S. Pineda, Carolin K. Scriba, Michel Tchan, Victor S.C. Fung, Karl Ng, Andrea Cortese, Henry Houlden, Carol Dobson‐Stone, Lauren Fitzpatrick, Glenda M. Halliday, Gianina Ravenscroft, Mark R. Davis, Nigel G. Laing, Avi Fellner, Marina Kennerson, Kishore R. Kumar, Ira W. Deveson

    出版 2022
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