Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Chelsea, Bacon"'
Autor:
Hongge Wang, Matthew Davison, Kathryn Wang, Tai‐He Xia, Martin Kramer, Katherine Call, Jun Luo, Xingyao Wu, Riccardo Zuccarino, Chelsea Bacon, Yunhong Bai, John J. Moran, Laurie Gutmann, Shawna M. E. Feely, Tiffany Grider, Alexander M. Rossor, Mary M. Reilly, John Svaren, Michael E. Shy
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 69-82 (2020)
Abstract Objective Development of biomarkers for Charcot‐Marie‐Tooth (CMT) disease is critical for implementing effective clinical trials. The most common form of CMT, type 1A, is caused by a genomic duplication surrounding the PMP22 gene. A rece
Externí odkaz:
https://doaj.org/article/dc9e0a2aa18948ce9654a875eb019133
Autor:
Vera, Fridman, Stefan, Sillau, Jacob, Bockhorst, Kaitlin, Smith, Isabella, Moroni, Emanuela, Pagliano, Chiara, Pisciotta, Guiseppe, Piscosquito, Matilde, Laurá, Francesco, Muntoni, Chelsea, Bacon, Shawna, Feely, Tiffany, Grider, Laurie, Gutmann, Rosemary, Shy, Janel, Wilcox, David N, Herrmann, Jun, Li, Sindhu, Ramchandren, Charlotte J, Sumner, Thomas E, Lloyd, John, Day, Carly E, Siskind, Sabrina W, Yum, Reza, Sadjadi, Richard S, Finkel, Steven S, Scherer, Davide, Pareyson, Mary M, Reilly, Michael E, Shy
Publikováno v:
Annals of Neurology. 93:563-576
The paucity of longitudinal natural history studies in MPZ neuropathy remains a barrier to clinical trials. We have completed a longitudinal natural history study in patients with MPZ neuropathies across 13 sites of the Inherited Neuropathies Consort
Autor:
Diana Castro, Mary M. Reilly, Steve Courel, Amit Abraham, Lisa Abreu, Chelsea Bacon, Gal Shner, Ramin Shiekhattar, Yael Eshed-Eisenbach, Anna Vainshtein, Andrea Cortese, Elior Peles, Michael E. Shy, Elena Buglo, Yunhong Bai, Gabriel Gaidosh, Stephan Züchner, Adriana P. Rebelo, Vladimir Camarena, Dennis K. Burns, Shawna M. E. Feely
Publikováno v:
Brain. 144:1197-1213
The CADM family of proteins consists of four neuronal specific adhesion molecules (CADM1, CADM2, CADM3 and CADM4) that mediate the direct contact and interaction between axons and glia. In the peripheral nerve, axon-Schwann cell interaction is essent
Autor:
Diana C. Lee, Rebecca Meyer-Schuman, Steven S. Scherer, Michael E. Shy, Chelsea Bacon, Anthony Antonellis
Publikováno v:
J Peripher Nerv Syst
We found a p.Gly327Arg mutation in GARS in two unrelated women, both of whom had a similar phenotype - motor weakness that began in late childhood, distal weakness in the arms and legs, a motor greater than sensory neuropathy with slowing of motor an
Autor:
Vladimir Camarena, Yunhong Bai, Diana Castro, Chelsea Bacon, Andrea Cortese, Anna Vainshtein, Lisa Abreu, Gabriel Gaidosh, Gal Shner, Adriana P. Rebelo, Amit Abraham, Elena Buglo, Dennis K. Burns, Elior Peles, Shawna M. E. Feely, Stephan Züchner, Yael Eshed-Eisenbach, Michael E. Shy, Mary M. Reilly, Steve Courel, Ramin Shiekhattar
Publikováno v:
Brain
The CADM family of proteins consists of four neuronal specific adhesion molecules (CADM1, CADM2, CADM3 and CADM4) that mediate the direct contact and interaction between axons and glia. In the peripheral nerve, axon-Schwann cell interaction is essent
Autor:
Enrico Bugiardini, Matt C. Danzi, Nourelhoda A Haridy, Ruxu Zhang, Lisa Abreu, Thierry Maisonobe, Dana M. Bis-Brewer, Fiore Manganelli, Davide Pareyson, Yunhong Bai, Enrico Marchioni, Adriana P. Rebelo, Andrea Cortese, Yi Zhu, Matthis Synofzik, Sherifa A. Hamed, Michael E. Shy, Tanya Stojkovic, Zhiqiang Lin, Alaa Khan, Mohamed A. Abdelhamed, Michaela Auer-Grumbach, Stefania Magri, Stefano Tozza, Chelsea Bacon, Matilde Laura, Alkyoni Athanasiou-Fragkouli, Alexander M. Rossor, Chiara Pisciotta, R. Grace Zhai, Janet E. Sowden, Mary M. Reilly, Abdullah Al-Ajmi, Rebecca Schüle, Shawna M. E. Feely, Stephan Züchner, David N. Herrmann, Steve Courel, Steven S. Scherer, Beisha Tang, Julia E. Dallman, Paola Saveri, Franco Taroni, Jana Vandrovcova, Lucio Santoro, Eric Powell, Menelaos Pipis, Elena Buglo, Sara Negri, Henry Houlden, Elena Grignani, Rosario Isasi
Publikováno v:
Nature genetics 52(6), 640 (2020). doi:10.1038/s41588-020-0649-7
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92142d06c986e6a8c25c3a661e777559
https://pub.dzne.de/record/163921
https://pub.dzne.de/record/163921
Autor:
Janet E. Sowden, Katy Eichinger, R Shy, Mary Lohse Shepherd, David N. Herrmann, Kayla M.D. Cornett, Joshua Burns, Joan M. Mountain, Chelsea Bacon, Michael E. Shy
Publikováno v:
Neurology. 91:e1381-e1384
ObjectiveThe purpose of this study was to examine the feasibility, reliability, and convergent validity of the Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM), a new performance-based measure assessing functional ability in adults with CMT d
Autor:
Franco Taroni, Enrico Marchioni, Thierry Maisonobe, Mary M. Reilly, Enrico Bugiardini, Jana Vandrovcova, Steve Courel, Alkyoni Athanasiou-Fragkouli, Chiara Pisciotta, Fiore Manganelli, Janet E. Sowden, Davide Pareyson, Matthis Synofzik, Abdullah Al-Ajmi, Rebecca Schüle, Matt C. Danzi, Sherifa A. Hamed, Adriana P. Rebelo, R. Grace Zhai, Chelsea Bacon, Zhiqiang Lin, Michaela Auer-Grumbach, Eric Powell, Shawna M. E. Feely, Alaa Khan, Steven S. Scherer, Tanya Stojkovic, Julia E. Dallman, Yunhong Bai, Dana M. Bis-Brewer, Paola Saveri, Henry Houlden, Stefano Tozza, Lucio Santoro, Stephan Züchner, Elena Grignani, David N. Herrmann, Michael E. Shy, Mohamed A. Abdelhamed, Stefania Magri, Andrea Cortese, Menelaos Pipis, Yi Zhu, Beisha Tang, Matilde Laura, Alexander M. Rossor, Nourelhoda A Haridy, Ruxu Zhang, Lisa Abreu, Elena Buglo, Sara Negri, Rosario Isasi
Publikováno v:
Nature genetics 52(5), 473-481 (2020). doi:10.1038/s41588-020-0615-4
Nature Genetics
Nat Genet
Nature Genetics
Nat Genet
Here we demonstrate biallelic mutations in sorbitol dehydrogenase (SORD) as the most frequent recessive form of hereditary neuropathies. We identified 45 cases from 38 families across multiple ethnicities, carrying a particular nonsense mutation in S
Autor:
Dana Šafka Brožková, Rene Barro-Soria, H. Peter Larsson, Petra Laššuthová, Shawna M. E. Feely, Pavel Seeman, Eric Powell, Yi-Chung Lee, Elena Buglo, Daniel G. Isom, Cima Saghira, Feifei Tao, Royston Ong, Yunhong Bai, Steven S. Scherer, Lorna Marns, Chelsea Bacon, Gianina Ravenscroft, Megan F. Baxter, Lisa Abreu, Stephan Züchner, Jana Haberlová, Phillipa J. Lamont, Adriana P. Rebelo, Fiore Manganelli, Mark R. Davis, Lucio Santoro, Steve Courel, Ki Wha Chung, Dana M. Bis, Radim Mazanec, Michael E. Shy, Byung Ok Choi, Nigel G. Laing
Publikováno v:
The American Journal of Human Genetics. 102:505-514
Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in more than 50% of affected individuals. The discovery of additional genes that harbor CMT2-causing mutations increasingly depends o
Autor:
Hongge Wang, Katherine M. Call, Alexander M. Rossor, Chelsea Bacon, Mary M. Reilly, Kathryn Wang, Tai-he Xia, Martin Kramer, Michael E. Shy, Yunhong Bai, Laurie Gutmann, Tiffany Grider, Jun Luo, Matthew Davison, John J. Moran, Riccardo Zuccarino, Xingyao Wu, Shawna M. E. Feely, John Svaren
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 69-82 (2020)
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 69-82 (2020)
Objective Development of biomarkers for Charcot‐Marie‐Tooth (CMT) disease is critical for implementing effective clinical trials. The most common form of CMT, type 1A, is caused by a genomic duplication surrounding the PMP22 gene. A recent report