Endocrine and growth abnormalities in 4H leukodystrophy caused by variants in POLR3A, POLR3B, and POLR1C
- Creator: Pelletier, Félixe , Perrier, Stefanie , Cayami, Ferdy K. , Mirchi, Amytice , Saikali, Sstephan , Tran, Luan T. , Ulrick, N , Guerrero, Kether , Rampakakis, Emmanouil , van Spaendonk, Rosalina M. L. , Naidu, Sakkubai , Pohl, Daniela , Gibson, William T. , Demos, Michelle , Goizet, Cyril , Tejera-Martin, Ingrid , Potic, Ana , Fogel, Brent L. , Brais, Bernard , Sylvain, Michel , Ronan, Anne , Van Spaendonk, RML
- Resource Type: journal article
- Date: 2021
Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS
- Creator: Rafehi, Haloom , Szmulewicz, David J. , Barcina, Maria Garcia , Breen, David P. , Chancellor, Andrew M. , Cremer, Phillip D. , Delatycki, Martin B. , Fogel, Brent L. , Hackett, Anna , Halmagyi, G. Michael , Kapetanovic, Solange , Lang, Anthony , Bennett, Mark F. , 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 , Sobreira, Nara L. M. , Amor, David J. , Bahlo, Melanie , Lockhart, Paul J. , Pope, Kate , Smith, Katherine R. , Gillies, Greta , Diakumis, Peter , Dolzhenko, Egor , Eberle, Michael A.
- Resource Type: journal article
- Date: 2019
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
- Creator: Zambonin, Jessica L. , Bellomo, Allison , Koenig, Mary Kay , Lines, Matthew , Palmer, Elizabeth Emma , Richardson, Randal , Segel, Reeval , Tarnopolsky, Mark , Vanstone, Jason R. , Gibbons, Melissa , Collins, Abigail , Fogel, Brent L. , Ben-Pazi, Hilla , Dudding-Byth, Tracy , Boycott, Kym M. , Everman, David B. , Frazer, Lee M. , Geraghty, Michael T. , Harper, Amy D. , Jones, Julie R. , Kamien, Benjamin , Kernohan, Kristin
- Resource Type: journal article
- Date: 2017