檢索結果 - Justin Kinsella
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Redefining the phenotype of ALSP and <i>AARS2</i> mutation–related leukodystrophy 由 Rahul Lakshmanan, Matthew Adams, David S. Lynch, Justin Kinsella, Rahul Phadke, Jonathan M. Schott, Elaine Murphy, Jonathan D. Rohrer, Jeremy Chataway, Henry Houlden, Nick C. Fox, Indran Davagnanam
出版 2017Revisão -
2
Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era 由 David S. Lynch, Charles Wade, Anderson Rodrigues Brandão de Paiva, Nevin John, Justin Kinsella, Áine Merwick, Rebekah M. Ahmed, Jason D. Warren, Catherine J. Mummery, Jonathan M. Schott, Nick C. Fox, Henry Houlden, Matthew Adams, Indran Davagnanam, Elaine Murphy, Jeremy Chataway
出版 2018Revisão -
3
Analysis of Mutations in <i>AARS2</i> in a Series of <i>CSF1R</i>-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia 由 David S. Lynch, Wei Jia Zhang, Rahul Lakshmanan, Justin Kinsella, Güneş Altıokka Uzun, Merih Karbay, Zeynep Tüfekçıoğlu, Haşmet Hanağası, Georgina Burke, Nicola Foulds, Simon Hammans, Anupam Bhattacharjee, Heather Wilson, Matthew Adams, Mark Walker, James A. R. Nicoll, Jeremy Chataway, Nick C. Fox, Indran Davagnanam, Rahul Phadke, Henry Houlden
出版 2016Artigo -
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Clinical and genetic characterization of leukoencephalopathies in adults 由 David S. Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, Enrico Bugiardini, Fernando Freua, Leandro Tavares Lucato, Lúcia Inês Macedo‐Souza, Rahul Lakshmanan, Justin Kinsella, Áine Merwick, Alexander M. Rossor, Nin Bajaj, Brian Herron, Paul McMonagle, Patrick J. Morrison, Deborah Hughes, Alan Pittman, Matilde Laurá, Mary M. Reilly, Jason D. Warren, Catherine J. Mummery, Jonathan M. Schott, Matthew Adams, Nick C. Fox, Elaine Murphy, Indran Davagnanam, Fernando Kok, Jeremy Chataway, Henry Houlden
出版 2017Artigo
相關主題
Disease
Leukoencephalopathy
Medicine
Pathology
Leukodystrophy
Biology
Exome sequencing
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Genetic testing
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Internal medicine
Magnetic resonance imaging
Mutation
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White matter
Ataxia
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Corpus callosum
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