Molecular Organization of Sarcoglycan Complex in Mouse Myotubes in Culture

by Chan, Yiu-mo, Bönnemann, Carsten G., Lidov, Hart G.W., Kunkel, Louis M.
Published 1998

Primary calcified rhabdoid meningioma of the cranio-cervical junction: A case report and review of literature

by Abolfotoh, Mohammad, Tavanaiepour, Daryoush, Hong, Changki, Dunn, Ian F., lidov, Hart, Al-Mefty, Ossama
Published 2012

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

by Boyden, Steven E, Duncan, Anna R, Estrella, Elicia A, Lidov, Hart GW, Mahoney, Lane J, Katz, Jonathan S, Kunkel, Louis M, Kang, Peter B
Published 2011

Filamin 2 (Fln2): A Muscle-Specific Sarcoglycan Interacting Protein

by Thompson, Terri G., Chan, Yiu-Mo, Hack, Andrew A., Brosius, Melissa, Rajala, Michael, Lidov, Hart G.W., McNally, Elizabeth M., Watkins, Simon, Kunkel, Louis M.
Published 2000

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease

by Joshi, Mugdha, Anselm, Irina, Shi, Jiahai, Bale, Tejus A., Towne, Meghan, Schmitz-Abe, Klaus, Crowley, Laura, Giani, Felix C., Kazerounian, Shideh, Markianos, Kyriacos, Lidov, Hart G., Folkerth, Rebecca, Sankaran, Vijay G., Agrawal, Pankaj B.
Published 2016

Sonic Hedgehog promotes proliferation of Notch-dependent monociliated choroid plexus tumour cells

by Li, Li, Grausam, Katie B., Wang, Jun, Lun, Melody P., Ohli, Jasmin, Lidov, Hart G. W., Calicchio, Monica L., Zeng, Erliang, Salisbury, Jeffrey L., Wechsler-Reya, Robert J., Lehtinen, Maria K., Schüller, Ulrich, Zhao, Haotian
Published 2016

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

by Boyden, Steven E., Mahoney, Lane J., Kawahara, Genri, Myers, Jennifer A., Mitsuhashi, Satomi, Estrella, Elicia A., Duncan, Anna R., Dey, Friederike, DeChene, Elizabeth T., Blasko-Goehringer, Jessica M., Bönnemann, Carsten G., Darras, Basil T., Mendell, Jerry R., Lidov, Hart G. W., Nishino, Ichizo, Beggs, Alan H., Kunkel, Louis M., Kang, Peter B.
Published 2012

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

by Boisson, Bertrand, Laplantine, Emmanuel, Dobbs, Kerry, Cobat, Aurélie, Tarantino, Nadine, Hazen, Melissa, Lidov, Hart G.W., Hopkins, Gregory, Du, Likun, Belkadi, Aziz, Chrabieh, Maya, Itan, Yuval, Picard, Capucine, Fournet, Jean-Christophe, Eibel, Hermann, Tsitsikov, Erdyni, Pai, Sung-Yun, Abel, Laurent, Al-Herz, Waleed, Casanova, Jean-Laurent, Israel, Alain, Notarangelo, Luigi D.
Published 2015

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations

by Mangum, Joshua E., Hardee, Justin P., Fix, Dennis K., Puppa, Melissa J., Elkes, Johnathon, Altomare, Diego, Bykhovskaya, Yelena, Campagna, Dean R., Schmidt, Paul J., Sendamarai, Anoop K., Lidov, Hart G. W., Barlow, Shayne C., Fischel-Ghodsian, Nathan, Fleming, Mark D., Carson, James A., Patton, Jeffrey R.
Published 2016

Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas

by Brastianos, Priscilla K., Taylor-Weiner, Amaro, Manley, Peter E., Jones, Robert T., Dias-Santagata, Dora, Thorner, Aaron R., Rodriguez, Fausto J., Bernardo, Lindsay A., Schubert, Laura, Sunkavalli, Ashwini, Shillingford, Nick, Calicchio, Monica L., Lidov, Hart G.W., Taha, Hala, Martinez-Lage, Maria, Santi, Mariarita, Storm, Phillip B., Lee, John Y. K., Palmer, James N., Adappa, Nithin D., Scott, R. Michael, Dunn, Ian F., Laws, Edward R., Stewart, Chip, Ligon, Keith L., Hoang, Mai P., Van Hummelen, Paul, Hahn, William C., Louis, David N., Resnick, Adam C., Kieran, Mark W., Getz, Gad, Santagata, Sandro
Published 2014

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

by Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M., Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Manchester, David, Boyer, Philip J., Manzur, Adnan Y., Lourenco, Charles Marques, Pilz, Daniela T., Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K., Rogers, R. Curtis, Ryan, Monique M., Brown, Natasha J., McLean, Catriona A., Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A., Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz
Published 2016