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Early onset epileptic encephalopathy caused by de novo SCN8A mutations
Ohba, Chihiro, Kato, Mitsuhiro, Takahashi, Satoru, Lerman‐Sagie, Tally, Lev, Dorit, Terashima, Hiroshi, Kubota, Masaya, Kawawaki, Hisashi, Matsufuji, Mayumi, Kojima, Yasuko, Tateno, Akihiko, Goldberg‐Stern, Hadassa, Straussberg, Rachel, Marom, Dafna, Leshinsky‐Silver, Esther, Nakashima, Mitsuko, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Miyake, Noriko, Tanaka, Fumiaki, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in Epilepsia (Copenhagen) (01.07.2014)
Published in Epilepsia (Copenhagen) (01.07.2014)
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Journal Article
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
Esmaeeli Nieh, Sahar, Madou, Maura R. Z., Sirajuddin, Minhajuddin, Fregeau, Brieana, McKnight, Dianalee, Lexa, Katrina, Strober, Jonathan, Spaeth, Christine, Hallinan, Barbara E., Smaoui, Nizar, Pappas, John G., Burrow, Thomas A., McDonald, Marie T., Latibashvili, Mariam, Leshinsky‐Silver, Esther, Lev, Dorit, Blumkin, Luba, Vale, Ronald D., Barkovich, Anthony James, Sherr, Elliott H.
Published in Annals of clinical and translational neurology (01.06.2015)
Published in Annals of clinical and translational neurology (01.06.2015)
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Journal Article
Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region
Michelson, Marina, Ben-Sasson, Anat, Vinkler, Chana, Leshinsky-Silver, Esther, Netzer, Ifat, Frumkin, Ayala, Kivity, Sara, Lerman-Sagie, Tally, Lev, Dorit
Published in American journal of medical genetics. Part A (01.06.2012)
Published in American journal of medical genetics. Part A (01.06.2012)
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Journal Article
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
Esmaeeli Nieh, Sahar, Madou, Maura R. Z., Sirajuddin, Minhajuddin, Fregeau, Brieana, McKnight, Dianalee, Lexa, Katrina, Strober, Jonathan, Spaeth, Christine, Hallinan, Barbara E., Smaoui, Nizar, Pappas, John G., Burrow, Thomas A., McDonald, Marie T., Latibashvili, Mariam, Leshinsky‐Silver, Esther, Lev, Dorit, Blumkin, Luba, Vale, Ronald D., Barkovich, Anthony James, Sherr, Elliott H.
Published in Annals of clinical and translational neurology (01.06.2015)
Published in Annals of clinical and translational neurology (01.06.2015)
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Journal Article
EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO
Skopkova, Martina, Hennig, Friederike, Shin, Byung‐Sik, Turner, Clesson E., Stanikova, Daniela, Brennerova, Katarina, Stanik, Juraj, Fischer, Ute, Henden, Lyndal, Müller, Ulrich, Steinberger, Daniela, Leshinsky‐Silver, Esther, Bottani, Armand, Kurdiova, Timea, Ukropec, Jozef, Nyitrayova, Olga, Kolnikova, Miriam, Klimes, Iwar, Borck, Guntram, Bahlo, Melanie, Haas, Stefan A., Kim, Joo‐Ran, Lotspeich‐Cole, Leda E., Gasperikova, Daniela, Dever, Thomas E., Kalscheuer, Vera M.
Published in Human mutation (01.04.2017)
Published in Human mutation (01.04.2017)
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Journal Article
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect
Metz, Kyle A., Teng, Xinchen, Coppens, Isabelle, Lamb, Heather M., Wagner, Bart E., Rosenfeld, Jill A., Chen, Xianghui, Zhang, Yu, Kim, Hee Jong, Meadow, Michael E., Wang, Tim Sen, Haberlandt, Edda D., Anderson, Glenn W., Leshinsky‐Silver, Esther, Bi, Weimin, Markello, Thomas C., Pratt, Marsha, Makhseed, Nawal, Garnica, Adolfo, Danylchuk, Noelle R., Burrow, Thomas A., Jayakar, Parul, McKnight, Dianalee, Agadi, Satish, Gbedawo, Hatha, Stanley, Christine, Alber, Michael, Prehl, Isabelle, Peariso, Katrina, Ong, Min Tsui, Mordekar, Santosh R., Parker, Michael J., Crooks, Daniel, Agrawal, Pankaj B., Berry, Gerard T., Loddenkemper, Tobias, Yang, Yaping, Maegawa, Gustavo H. B., Aouacheria, Abdel, Markle, Janet G., Wohlschlegel, James A., Hartman, Adam L., Hardwick, J. Marie
Published in Annals of neurology (01.11.2018)
Published in Annals of neurology (01.11.2018)
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Journal Article
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
Ruzzo, Elizabeth K., Capo-Chichi, José-Mario, Ben-Zeev, Bruria, Chitayat, David, Mao, Hanqian, Pappas, Andrea L., Hitomi, Yuki, Lu, Yi-Fan, Yao, Xiaodi, Hamdan, Fadi F., Pelak, Kimberly, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Oz-Levi, Danit, Lev, Dorit, Lerman-Sagie, Tally, Leshinsky-Silver, Esther, Anikster, Yair, Ben-Asher, Edna, Olender, Tsviya, Colleaux, Laurence, Décarie, Jean-Claude, Blaser, Susan, Banwell, Brenda, Joshi, Rasesh B., He, Xiao-Ping, Patry, Lysanne, Silver, Rachel J., Dobrzeniecka, Sylvia, Islam, Mohammad S., Hasnat, Abul, Samuels, Mark E., Aryal, Dipendra K., Rodriguiz, Ramona M., Jiang, Yong-hui, Wetsel, William C., McNamara, James O., Rouleau, Guy A., Silver, Debra L., Lancet, Doron, Pras, Elon, Mitchell, Grant A., Michaud, Jacques L., Goldstein, David B.
Published in Neuron (Cambridge, Mass.) (16.10.2013)
Published in Neuron (Cambridge, Mass.) (16.10.2013)
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Journal Article
The molecular and phenotypic spectrum of IQSEC2‐related epilepsy
Zerem, Ayelet, Haginoya, Kazuhiro, Lev, Dorit, Blumkin, Lubov, Kivity, Sara, Linder, Ilan, Shoubridge, Cheryl, Palmer, Elizabeth Emma, Field, Michael, Boyle, Jackie, Chitayat, David, Gaillard, William D., Kossoff, Eric H., Willems, Marjolaine, Geneviève, David, Tran‐Mau‐Them, Frederic, Epstein, Orna, Heyman, Eli, Dugan, Sarah, Masurel‐Paulet, Alice, Piton, Ame'lie, Kleefstra, Tjitske, Pfundt, Rolph, Sato, Ryo, Tzschach, Andreas, Matsumoto, Naomichi, Saitsu, Hirotomo, Leshinsky‐Silver, Esther, Lerman‐Sagie, Tally
Published in Epilepsia (Copenhagen) (01.11.2016)
Published in Epilepsia (Copenhagen) (01.11.2016)
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Journal Article
Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy
Agamy, Orly, Ben Zeev, Bruria, Lev, Dorit, Marcus, Barak, Fine, Dina, Su, Dan, Narkis, Ginat, Ofir, Rivka, Hoffmann, Chen, Leshinsky-Silver, Esther, Flusser, Hagit, Sivan, Sara, Söll, Dieter, Lerman-Sagie, Tally, Birk, Ohad S.
Published in American journal of human genetics (08.10.2010)
Published in American journal of human genetics (08.10.2010)
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Journal Article
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia
Nishri, Daniella, Goldberg-Stern, Hadassa, Noyman, Iris, Blumkin, Lubov, Kivity, Sara, Saitsu, Hirotomo, Nakashima, Mitsuko, Matsumoto, Naomichi, Leshinsky-Silver, Esther, Lerman-Sagie, Tally, Lev, Dorit
Published in European journal of paediatric neurology (01.05.2016)
Published in European journal of paediatric neurology (01.05.2016)
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Journal Article
Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings
Zerem, Ayelet, Lev, Dorit, Blumkin, Lubov, Goldberg-Stern, Hadassa, Michaeli-Yossef, Yael, Halevy, Ayelet, Kivity, Sara, Nakamura, Kazuyuki, Matsumoto, Naomichi, Leshinsky-Silver, Esther, Saitsu, Hirotomo, Lerman-Sagie, Tally
Published in European journal of paediatric neurology (01.09.2014)
Published in European journal of paediatric neurology (01.09.2014)
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Journal Article
Chronic non-paroxysmal neuropathic pain — Novel phenotype of mutation in the sodium channel SCN9A gene
Dabby, Ron, Sadeh, Menachem, Gilad, Ronit, Lampl, Yair, Cohen, Sarit, Inbar, Shani, Leshinsky-Silver, Esther
Published in Journal of the neurological sciences (15.02.2011)
Published in Journal of the neurological sciences (15.02.2011)
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Journal Article
Myotonia in DNM2-related centronuclear myopathy
Dabby, Ron, Sadeh, Menachem, Gilad, Ronit, Jurkat-Rott, Karin, Lehmann-Horn, Frank, Leshinsky-Silver, Esther
Published in Journal of Neural Transmission (01.05.2014)
Published in Journal of Neural Transmission (01.05.2014)
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Journal Article
Pediatric onset Crohn's colitis is characterized by genotype-dependent age-related susceptibility
Levine, Arie, Kugathasan, Subra, Annese, Vito, Biank, Vincent, Leshinsky-Silver, Esther, Davidovich, Ofir, Kimmel, Gad, Shamir, Ron, Orazio, Palmieri, Karban, Amir, Broeckel, Ulrich, Cucchiara, Salvatore
Published in Inflammatory bowel diseases (01.12.2007)
Published in Inflammatory bowel diseases (01.12.2007)
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Journal Article
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation
Böhm, Johann, Leshinsky-Silver, Esther, Vassilopoulos, Stéphane, Le Gras, Stéphanie, Lerman-Sagie, Tally, Ginzberg, Mira, Jost, Bernard, Lev, Dorit, Laporte, Jocelyn
Published in Acta neuropathologica (01.10.2012)
Published in Acta neuropathologica (01.10.2012)
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Journal Article
Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia
Zerem, Ayelet, Vinkler, Chana, Michelson, Marina, Leshinsky-Silver, Esther, Lerman-Sagie, Tally, Lev, Dorit
Published in American journal of medical genetics. Part A (01.12.2011)
Published in American journal of medical genetics. Part A (01.12.2011)
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Journal Article
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA–ND3
Leshinsky-Silver, Esther, Lev, Dorit, Malinger, Gustavo, Shapira, Daniel, Cohen, Sarit, Lerman-Sagie, Tally, Saada, Ann
Published in Molecular genetics and metabolism (01.05.2010)
Published in Molecular genetics and metabolism (01.05.2010)
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Journal Article
IL-10RA truncation mutations and semite populations
Gasche, Christoph, Reinisch, Walter, Huber, Wolf-Dietrich, Leshinsky-Silver, Esther, Levine, Arie, Abdul-Baki, Heitham, Sharara, Ala I., Ajlouni, Yousef, Sefiani, Abdelaziz
Published in Inflammatory bowel diseases (01.06.2011)
Published in Inflammatory bowel diseases (01.06.2011)
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Journal Article
Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother
Michelson, Marina, Eden, Avi, Vinkler, Chana, Leshinsky-Silver, Esther, Kremer, Uri, Lerman-Sagie, Tally, Lev, Dorit
Published in European journal of paediatric neurology (01.05.2011)
Published in European journal of paediatric neurology (01.05.2011)
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Journal Article