Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Rafehi, Haloom, Szmulewicz, David J., Bennett, Mark F., Sobreira, Nara L.M., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A., Barcina, María García, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R.D., Wilson, Michael A., Zee, David S., Valle, David, Amor, David J., Bahlo, Melanie, Lockhart, Paul J.
Published in American journal of human genetics (03.07.2019)
Published in American journal of human genetics (03.07.2019)
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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis
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Published in Annals of the New York Academy of Sciences (01.09.2011)
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447: Remyelination is extensive in a subset of multiple sclerosis patients
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Published in Journal of clinical neuroscience (01.03.2008)
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Remyelination is extensive in a subset of multiple sclerosis patients
Patrikios, Peter, Stadelmann, Christine, Kutzelnigg, Alexandra, Rauschka, Helmut, Schmidbauer, Manfred, Laursen, Henning, Sorensen, Per Soelberg, Brück, Wolfgang, Lucchinetti, Claudia, Lassmann, Hans
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Published in Brain (London, England : 1878) (01.12.2006)
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Adjunctive Transdermal Cannabidiol for Adults With Focal Epilepsy: A Randomized Clinical Trial
O'Brien, Terence J, Berkovic, Samuel F, French, Jacqueline A, Messenheimer, John A, Sebree, Terri B, Bonn-Miller, Marcel O, Gutterman, Donna L
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Published in JAMA network open (01.07.2022)
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Dual pathology of corticobasal degeneration and Parkinson's disease in a patient with clinical features of progressive supranuclear palsy
Mooney, Tomin, Tampiyappa, Anthony, Robertson, Thomas, Grimley, Rohan, Burke, Chris, Ng, Kenneth, Patrikios, Peter
Published in Neurology India (01.11.2011)
Published in Neurology India (01.11.2011)
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Dual pathology of corticobasal degeneration and Parkinson′s disease in a patient with clinical features of progressive supranuclear palsy
Mooney, Tomin, Tampiyappa, Anthony, Robertson, Thomas, Grimley, Rohan, Burke, Chris, Ng, Kenneth, Patrikios, Peter
Published in Neurology India (2011)
Published in Neurology India (2011)
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Remyelination is extensive in a subset of multiple sclerosis patients. Commentary
SMITH, Kenneth J, PATRIKIOS, Peter, LASSMANN, Hans, STADELMANN, Christine, KUTZELNIGG, Alexandra, RAUSCHKA, Helmut, SCHMIDBAUER, Manfred, LAURSEN, Henning, SORENSEN, Per Soelberg, BRÜCK, Wolfgang, LUCCHINETTI, Claudia
Published in Brain (London, England : 1878) (2006)
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Published in Brain (London, England : 1878) (2006)
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Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS
Rafehi, Haloom, Szmulewicz, David, Bennett, Mark, Sobreira, Nara, Pope, Kate, Smith, Katherine, Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Mike, Maria Garcia Barcina, Breen, David, Chancellor, Andrew, Cremer, Phillip, Delatycki, Martin, Fogel, Brent, Hackett, Anna, Halmagyi, G Michael, Kapetanovic, Solange, Lang, Anthony, Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan, Rosemargy, Ian, Storey, Elsdon, Watson, Shaun, Wilson, Michael, Zee, David, Valle, David, Amor, David, Bahlo, Melanie, Lockhart, Paul J
Published in bioRxiv (19.04.2019)
Published in bioRxiv (19.04.2019)
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