Distinctive patterns of microRNA expression in primary muscular disorders
Eisenberg, Iris, Eran, Alal, Nishino, Ichizo, Moggio, Maurizio, Lamperti, Costanza, Amato, Anthony A, Lidov, Hart G, Kang, Peter B, North, Kathryn N, Mitrani-Rosenbaum, Stella, Flanigan, Kevin M, Neely, Lori A, Whitney, Duncan, Beggs, Alan H, Kohane, Isaac S, Kunkel, Louis M
Published in Proceedings of the National Academy of Sciences - PNAS (23.10.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (23.10.2007)
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Disruption of GMNC-MCIDAS multiciliogenesis program is critical in choroid plexus carcinoma development
Li, Qun, Han, Zhiyuan, Singh, Navleen, Terré, Berta, Fame, Ryann M, Arif, Uzayr, Page, Thomas D, Zahran, Tasneem, Abdeltawab, Ahmed, Huang, Yuan, Cao, Ping, Wang, Jun, Lu, Hao, Lidov, Hart G W, Surendran, Kameswaran, Wu, Lizhao, Virga, James Q, Zhao, Ying-Tao, Schüller, Ulrich, Wechsler-Reya, Robert J, Lehtinen, Maria K, Roy, Sudipto, Liu, Zhongmin, Stracker, Travis H, Zhao, Haotian
Published in Cell death and differentiation (01.08.2022)
Published in Cell death and differentiation (01.08.2022)
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Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia
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 in The Journal of experimental medicine (01.06.2015)
Published in The Journal of experimental medicine (01.06.2015)
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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
Nascimento, Andres, Bruels, Christine C., Donkervoort, Sandra, Foley, A. Reghan, Codina, Anna, Milisenda, Jose C., Estrella, Elicia A., Li, Chengcheng, Pijuan, Jordi, Draper, Isabelle, Hu, Ying, Stafki, Seth A., Pais, Lynn S., Ganesh, Vijay S., O’Donnell-Luria, Anne, Syeda, Safoora B., Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Martorell, Loreto, Pinal-Fernandez, Iago, Lidov, Hart G. W., Mammen, Andrew L., Grau-Junyent, Josep M., Ortez, Carlos, Palau, Francesc, Ghosh, Partha S., Darras, Basil T., Jou, Cristina, Kunkel, Louis M., Hoenicka, Janet, Bönnemann, Carsten G., Kang, Peter B., Natera-de Benito, Daniel
Published in Acta neuropathologica (01.04.2023)
Published in Acta neuropathologica (01.04.2023)
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Somatic variants in diverse genes leads to a spectrum of focal cortical malformations
Lai, Dulcie, Gade, Meethila, Yang, Edward, Koh, Hyun Yong, Lu, Jinfeng, Walley, Nicole M, Buckley, Anne F, Sands, Tristan T, Akman, Cigdem I, Mikati, Mohamad A, McKhann, Guy M, Goldman, James E, Canoll, Peter, Alexander, Allyson L, Park, Kristen L, Von Allmen, Gretchen K, Rodziyevska, Olga, Bhattacharjee, Meenakshi B, Lidov, Hart G W, Vogel, Hannes, Grant, Gerald A, Porter, Brenda E, Poduri, Annapurna H, Crino, Peter B, Heinzen, Erin L
Published in Brain (London, England : 1878) (27.08.2022)
Published in Brain (London, England : 1878) (27.08.2022)
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Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies
Chan, Yiumo Michael, Keramaris-Vrantsis, Elizabeth, Lidov, Hart G., Norton, James H., Zinchenko, Natalia, Gruber, Helen E., Thresher, Randy, Blake, Derek J., Ashar, Jignya, Rosenfeld, Jeffrey, Lu, Qi L.
Published in Human molecular genetics (15.10.2010)
Published in Human molecular genetics (15.10.2010)
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OTX2 Represses Myogenic and Neuronal Differentiation in Medulloblastoma Cells
BAI, Ren-Yuan, STAEDTKE, Verena, LIDOV, Hart G, EBERHART, Charles G, RIGGINS, Gregory J
Published in Cancer research (Chicago, Ill.) (15.11.2012)
Published in Cancer research (Chicago, Ill.) (15.11.2012)
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Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
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 in Neurogenetics (01.05.2012)
Published in Neurogenetics (01.05.2012)
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A novel GIT2-BRAF fusion in pilocytic astrocytoma
Helgager, Jeffrey, Lidov, Hart G, Mahadevan, Navin R, Kieran, Mark W, Ligon, Keith L, Alexandrescu, Sanda
Published in Diagnostic pathology (15.11.2017)
Published in Diagnostic pathology (15.11.2017)
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Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation
Gussoni, Emanuela, Bennett, Richard R, Muskiewicz, Kristina R, Meyerrose, Todd, Nolta, Jan A, Gilgoff, Irene, Stein, James, Chan, Yiu-Mo, Lidov, Hart G, Bönnemann, Carsten G, Von Moers, Arpad, Morris, Glenn E, Den Dunnen, Johan T, Chamberlain, Jeffrey S, Kunkel, Louis M, Weinberg, Kenneth
Published in The Journal of clinical investigation (01.09.2002)
Published in The Journal of clinical investigation (01.09.2002)
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Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency
Ho, Mengfatt, Post, Cristina M., Donahue, Leah R., Lidov, Hart G.W., Bronson, Roderick T., Goolsby, Holly, Watkins, Simon C., Cox, Gregory A., Brown, Robert H.
Published in Human molecular genetics (15.09.2004)
Published in Human molecular genetics (15.09.2004)
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The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States
Reddy, Hemakumar M, Cho, Kyung-Ah, Lek, Monkol, Estrella, Elicia, Valkanas, Elise, Jones, Michael D, Mitsuhashi, Satomi, Darras, Basil T, Amato, Anthony A, Lidov, Hart Gw, Brownstein, Catherine A, Margulies, David M, Yu, Timothy W, Salih, Mustafa A, Kunkel, Louis M, MacArthur, Daniel G, Kang, Peter B
Published in Journal of human genetics (01.02.2017)
Published in Journal of human genetics (01.02.2017)
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Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas
Brastianos, Priscilla K, Taylor-Weiner, Amaro, Manley, Peter E, Jones, Robert T, Dias-Santagata, Dora, Thorner, Aaron R, Lawrence, Michael S, 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, Jr, 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 in Nature genetics (01.02.2014)
Published in Nature genetics (01.02.2014)
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H3K27-altered diffuse midline gliomas with MAPK pathway alterations: Prognostic and therapeutic implications
Gestrich, Catherine, Grieco, Kristina, Lidov, Hart G, Baird, Lissa C, Fehnel, Katie P, Yeo, Kee Kiat, Meredith, David M, Alexandrescu, Sanda
Published in Journal of neuropathology and experimental neurology (22.12.2023)
Published in Journal of neuropathology and experimental neurology (22.12.2023)
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Optimal dose of aprotinin for neuroprotection and renal function in a piglet survival model
Iwata, Yusuke, MD, Okamura, Toru, MD, Ishibashi, Nobuyuki, MD, Zurakowski, David, PhD, Lidov, Hart G.W., MD, Jonas, Richard A., MD
Published in Journal of thoracic and cardiovascular surgery (Print) (01.06.2009)
Published in Journal of thoracic and cardiovascular surgery (Print) (01.06.2009)
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Conference Proceeding
Aprotinin improves cerebral protection: Evidence from a survival porcine model
Anttila, Vesa, Hagino, Ikuo, Iwata, Yusuke, Mettler, Bret A., Lidov, Hart G.W., Zurakowski, David, Jonas, Richard A.
Published in The Journal of thoracic and cardiovascular surgery (01.10.2006)
Published in The Journal of thoracic and cardiovascular surgery (01.10.2006)
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Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin‐like enhancer 1 in primary intracranial sarcoma, DICER1‐mutant
Alexandrescu, Sanda, Meredith, David M, Lidov, Hart G, Alaggio, Rita, Novello, Mariangela, Ligon, Keith L, Vargas, Sara O
Published in Histopathology (01.01.2021)
Published in Histopathology (01.01.2021)
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PHOX2B is a reliable immunomarker in distinguishing peripheral neuroblastic tumours from CNS embryonal tumours
Alexandrescu, Sanda, Paulson, Vera, Dubuc, Adrian, Ligon, Azra, Lidov, Hart G
Published in Histopathology (01.09.2018)
Published in Histopathology (01.09.2018)
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Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy
Winawer, Melodie R., Griffin, Nicole G., Samanamud, Jorge, Baugh, Evan H., Rathakrishnan, Dinesh, Ramalingam, Senthilmurugan, Zagzag, David, Schevon, Catherine A., Dugan, Patricia, Hegde, Manu, Sheth, Sameer A., McKhann, Guy M., Doyle, Werner K., Grant, Gerald A., Porter, Brenda E., Mikati, Mohamad A., Muh, Carrie R., Malone, Colin D., Bergin, Ann Marie R., Peters, Jurriaan M., McBrian, Danielle K., Pack, Alison M., Akman, Cigdem I., LaCoursiere, Christopher M., Keever, Katherine M., Madsen, Joseph R., Yang, Edward, Lidov, Hart G. W., Shain, Catherine, Allen, Andrew S., Canoll, Peter D., Crino, Peter B., Poduri, Annapurna H., Heinzen, Erin L.
Published in Annals of neurology (01.06.2018)
Published in Annals of neurology (01.06.2018)
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Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE
Boyden, Steven E, Duncan, Anna R, Estrella, Elicia A, Lidov, Hart G W, Mahoney, Lane J, Katz, Jonathan S, Kunkel, Louis M, Kang, Peter B
Published in BMC medical genetics (28.06.2011)
Published in BMC medical genetics (28.06.2011)
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