Rupleen Kaur


MD/PhD Student | Case Western Reserve University

Publications


Giant axonal neuropathy: cross sectional analysis of a large natural history cohort.


D. Bharucha-Goebel, G. Norato, D. Saade, E. Paredes, Victoria Biancavilla, S. Donkervoort, R. Kaur, T. Lehky, M. Fink, D. Armao, S. Gray, M. Waite, S. Debs, G. Averion, Ying Hu, W. Zein, A. Foley, M. Jain, C. Bönnemann


Brain : a journal of neurology, 2021


Phenotypic Spectrum of PNPT1: Interferonopathy or Not?


D. Schorling, R. Kaur, S. Donkervoort, C. Bönnemann, A. Lee-Kirsch, J. Kirschner, M. Eckenweiler, W. Janzarik


Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics, 2021


Differential gene expression identifies a transcriptional regulatory network involving ER-alpha and PITX1 in invasive epithelial ovarian cancer


Yichao Li, S. Jaiswal, Rupleen Kaur, D. Alsaadi, Xiaoyu Liang, F. Drews, J. Deloia, T. Krivak, H. Petrykowska, Valer Gotea, L. Welch, L. Elnitski


BMC cancer, 2021


Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs


V. Bolduc, K. Minor, Ying Hu, R. Kaur, S. Friedenberg, S. V. Buren, Ling T Guo, Joseph C. Glennon, K. Marioni-Henry, J. Mickelson, C. Bönnemann, G. Shelton


Neuromuscular Disorders, 2020


MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement


S. Donkervoort, R. Sabouny, P. Yun, L. Gauquelin, K. Chao, Y. Hu, I. Al Khatib, A. Töpf, P. Mohassel, B. Cummings, R. Kaur, D. Saade, S. Moore, L. Waddell, M. Farrar, J. Goodrich, P. Uapinyoying, S. Chan, A. Javed, M. Leach, P. Karachunski, J. Dalton, L. Medne, A. Harper, C. Thompson, I. Thiffault, S. Specht, R. Lamont, C. Saunders, H. Racher, F. Bernier, D. Mowat, N. Witting, J. Vissing, R. Hanson, K. Coffman, M. Hainlen, J. Parboosingh, A. Carnevale, G. Yoon, R. Schnur, K. Boycott, J. Mah, V. Straub, A. Foley, A. Innes, C. Bönnemann, T. Shutt


Acta Neuropathologica, 2019


CMT AND NEUROGENIC DISEASE P.337Giant axonal neuropathy presenting as CMT2: results from the NIH natural history study


D. Saade, D. Bharucha-Goebel, G. Norato, A. Foley, M. Waite, M. Jain, S. Debs, R. Vasavada, C. Nichols, R. Kaur, S. Donkervoort, S. Neuhaus, Y. Hu, T. Lehky, S. Gray, M. Fink


Neuromuscular Disorders, 2018


NEW GENES, FUNCTIONS AND BIOMARKERS O.1Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsy


S. Donkervoort, Y. Hu, P. Shieh, J. Koliwer, L. Tsai, B. Cummings, M. Snyder, K. Chao, R. Kaur, D. Bharucha-Goebel, S. Iannaccone, D. Macarthur, A. Foley, M. Schwake, C. Bönnemann


Neuromuscular Disorders, 2018


Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration


V. Shashi, M. Magiera, D. Klein, M. Zaki, K. Schoch, S. Rudnik-Schöneborn, A. Norman, O. Lopes Abath Neto, M. Dusl, Xidi Yuan, Luca Bartesaghi, P. De Marco, A. Alfares, R. Marom, S. Arold, Francisco J. Guzmán-Vega, L. Pena, E. Smith, M. Steinlin, Mohamed O E Babiker, P. Mohassel, A. Foley, S. Donkervoort, R. Kaur, P. Ghosh, Valentina Stanley, D. Musaev, C. Nava, C. Mignot, B. Keren, M. Scala, E. Tassano, P. Picco, P. Doneda, C. Fiorillo, M. Issa, A. Alassiri, A. Alahmad, A. Gerard, P. Liu, Yaping Yang, B. Ertl-Wagner, P. Kranz, I. Wentzensen, R. Stucka, N. Stong, A. Allen, D. Goldstein, B. Schoser, K. Rösler, M. Alfadhel, V. Capra, R. Chrast, T. Strom, E. Kamsteeg, C. Bönnemann, J. Gleeson, R. Martini, C. Janke, J. Senderek


The EMBO journal, 2018

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