Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor
Rinaldi, Carlo, Grunseich, Christopher, Sevrioukova, Irina F., Schindler, Alice, Horkayne-Szakaly, Iren, Lamperti, Costanza, Landouré, Guida, Kennerson, Marina L., Burnett, Barrington G., Bönnemann, Carsten, Biesecker, Leslie G., Ghezzi, Daniele, Zeviani, Massimo, Fischbeck, Kenneth H.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
Tsai, Pei-Chien, Soong, Bing-Wen, Mademan, Inès, Huang, Yen-Hua, Liu, Chia-Rung, Hsiao, Cheng-Tsung, Wu, Hung-Ta, Liu, Tze-Tze, Liu, Yo-Tsen, Tseng, Yen-Ting, Lin, Kon-Ping, Yang, Ueng-Cheng, Chung, Ki Wha, Choi, Byung-Ok, Nicholson, Garth A, Kennerson, Marina L, Chan, Chih-Chiang, De Jonghe, Peter, Cheng, Tzu-Hao, Liao, Yi-Chu, Züchner, Stephan, Baets, Jonathan, Lee, Yi-Chung
Published in Brain (London, England : 1878) (01.05.2017)
Published in Brain (London, England : 1878) (01.05.2017)
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Advances and challenges in modeling inherited peripheral neuropathies using iPSCs
Van Lent, Jonas, Prior, Robert, Pérez Siles, Gonzalo, Cutrupi, Anthony N., Kennerson, Marina L., Vangansewinkel, Tim, Wolfs, Esther, Mukherjee-Clavin, Bipasha, Nevin, Zachary, Judge, Luke, Conklin, Bruce, Tyynismaa, Henna, Clark, Alex J., Bennett, David L., Van Den Bosch, Ludo, Saporta, Mario, Timmerman, Vincent
Published in Experimental & molecular medicine (01.06.2024)
Published in Experimental & molecular medicine (01.06.2024)
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Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy
Kennerson, Marina L., Nicholson, Garth A., Kaler, Stephen G., Kowalski, Bartosz, Mercer, Julian F.B., Tang, Jingrong, Llanos, Roxana M., Chu, Shannon, Takata, Reinaldo I., Speck-Martins, Carlos E., Baets, Jonathan, Almeida-Souza, Leonardo, Fischer, Dirk, Timmerman, Vincent, Taylor, Philip E., Scherer, Steven S., Ferguson, Toby A., Bird, Thomas D., De Jonghe, Peter, Feely, Shawna M.E., Shy, Michael E., Garbern, James Y.
Published in American journal of human genetics (12.03.2010)
Published in American journal of human genetics (12.03.2010)
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Journal Article
DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)
Chen, Ying-Zhang, Bennett, Craig L., Huynh, Huy M., Blair, Ian P., Puls, Imke, Irobi, Joy, Dierick, Ines, Abel, Annette, Kennerson, Marina L., Rabin, Bruce A., Nicholson, Garth A., Auer-Grumbach, Michaela, Wagner, Klaus, De Jonghe, Peter, Griffin, John W., Fischbeck, Kenneth H., Timmerman, Vincent, Cornblath, David R., Chance, Phillip F.
Published in American journal of human genetics (01.06.2004)
Published in American journal of human genetics (01.06.2004)
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C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement
Narayanan, Ramesh K., Perez-siles, Gonzalo, Marzec, Kamila A., Boyling, Alexandra, Neumann, Brent, Menezes, Manoj P., Kennerson, Marina L.
Published in Genes & diseases (01.07.2024)
Published in Genes & diseases (01.07.2024)
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Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation
Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.
Published in Molecular genetics & genomic medicine (01.05.2018)
Published in Molecular genetics & genomic medicine (01.05.2018)
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Journal Article
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy
LING YI, DONSANTE, Anthony, KENNERSON, Marina L, MERCER, Julian F. B, GARBERN, James Y, KALER, Stephen G
Published in Human molecular genetics (15.04.2012)
Published in Human molecular genetics (15.04.2012)
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Journal Article
Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
Perez-Siles, Gonzalo, Cutrupi, Anthony, Ellis, Melina, Kuriakose, Jakob, La Fontaine, Sharon, Mao, Di, Uesugi, Motonari, Takata, Reinaldo I, Speck-Martins, Carlos E, Nicholson, Garth, Kennerson, Marina L
Published in Disease models & mechanisms (01.02.2020)
Published in Disease models & mechanisms (01.02.2020)
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Pathogenic mechanisms underlying X-linked Charcot-Marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation
Perez-Siles, Gonzalo, Ly, Carolyn, Grant, Adrienne, Drew, Alexander P, Yiu, Eppie M, Ryan, Monique M, Chuang, David T, Tso, Shih-Chia, Nicholson, Garth A, Kennerson, Marina L
Published in Neurobiology of disease (01.10.2016)
Published in Neurobiology of disease (01.10.2016)
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Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
Brewer, Megan H, Chaudhry, Rabia, Qi, Jessica, Kidambi, Aditi, Drew, Alexander P, Menezes, Manoj P, Ryan, Monique M, Farrar, Michelle A, Mowat, David, Subramanian, Gopinath M, Young, Helen K, Zuchner, Stephan, Reddel, Stephen W, Nicholson, Garth A, Kennerson, Marina L
Published in PLoS genetics (01.07.2016)
Published in PLoS genetics (01.07.2016)
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CD300f epitopes are specific targets for acute myeloid leukemia with monocytic differentiation
Abadir, Edward, Gasiorowski, Robin E., Lai, Kaitao, Kupresanin, Fiona, Romano, Adelina, Silveira, Pablo A., Lo, Tsun‐Ho, Fromm, Phillip D., Kennerson, Marina L., Iland, Harry J., Ho, P. Joy, Hogarth, P. Mark, Bradstock, Kenneth, Hart, Derek N.J., Clark, Georgina J.
Published in Molecular oncology (01.10.2019)
Published in Molecular oncology (01.10.2019)
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Improved inherited peripheral neuropathy genetic diagnosis by whole‐exome sequencing
Drew, Alexander P., Zhu, Danqing, Kidambi, Aditi, Ly, Carolyn, Tey, Shelisa, Brewer, Megan H., Ahmad‐Annuar, Azlina, Nicholson, Garth A., Kennerson, Marina L.
Published in Molecular genetics & genomic medicine (01.03.2015)
Published in Molecular genetics & genomic medicine (01.03.2015)
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A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing
Grosz, Bianca R., Tisch, Stephen, Tchan, Michel C., Fung, Victor S. C., Darveniza, Paul, Fellner, Avi, Kurian, Manju A., McLean, Alison, Tomlinson, Susan E., Smyth, Renee, Devery, Sophie, Wu, Kathy H. C., Kennerson, Marina L., Kumar, Kishore R.
Published in Molecular genetics & genomic medicine (01.05.2022)
Published in Molecular genetics & genomic medicine (01.05.2022)
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Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS)
Edgar, Suzanna, Ellis, Melina, Abdul-Aziz, Nur Adilah, Goh, Khean-Jin, Shahrizaila, Nortina, Kennerson, Marina L., Ahmad-Annuar, Azlina
Published in Neurobiology of aging (01.12.2021)
Published in Neurobiology of aging (01.12.2021)
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Upper and lower limb tremor in Charcot–Marie–Tooth neuropathy type 1A and the implications for standing balance
Silsby, Matthew, Yiannikas, Con, Fois, Alessandro F., Kennerson, Marina L., Kiernan, Matthew C., Fung, Victor S. C., Vucic, Steve
Published in Journal of neurology (01.04.2024)
Published in Journal of neurology (01.04.2024)
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