Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Yuval, Salzberg"'
Autor:
Carlos H. Vieira-Vieira, Ajay Taranath, Achim Dickmanns, Ramona Jühlen, Sylvie Picker-Minh, Nuno Martins, Yuval Salzberg, Hamish S. Scott, Peer Arts, Thuong Ha, Paraskevi Bessa, Ethiraj Ravindran, Na Li, Gisela Stoltenburg-Didinger, Matilda R. Jackson, Boris Fichtman, Angela M. Kaindl, Birthe Fahrenkrog, Amnon Harel, Benjamin Kamien, Lena Luise-Becker, Hao Hu, Matthias Selbach, Victor Tarabykin, Christopher Barnett
Publikováno v:
Human Molecular Genetics.
Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) include a heterogeneous group of autosomal recessive inherited diseases characterized by primary (congenital) microcephaly, the absence of visceral abnormalit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc21b12d915fc61434d361bca0460169
https://doi.org/10.1093/hmg/ddab160
https://doi.org/10.1093/hmg/ddab160
Autor:
Hannah Trost, Dhruv Sareen, Clive N. Svendsen, Kelly Bowen, Amnon Harel, Alyssa N. Coyne, Jeffrey D. Rothstein, Yuval Salzberg, Boris Fitchman, Benjamin L. Zaepfel, Frank Rigo, Lindsey R. Hayes
Nucleocytoplasmic transport, controlled by the nuclear pore complex, has recently emerged as a pathomechanism underlying neurodegenerative diseases including C9orf72 ALS/FTD. However, little is known about the underlying molecular events and the unde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caf8b7adb736c81e44d001d547a68087
https://doi.org/10.1101/2020.02.13.947721
https://doi.org/10.1101/2020.02.13.947721
Autor:
Alyssa N, Coyne, Benjamin L, Zaepfel, Lindsey, Hayes, Boris, Fitchman, Yuval, Salzberg, En-Ching, Luo, Kelly, Bowen, Hannah, Trost, Stefan, Aigner, Frank, Rigo, Gene W, Yeo, Amnon, Harel, Clive N, Svendsen, Dhruv, Sareen, Jeffrey D, Rothstein
Publikováno v:
Neuron
Through mechanisms that remain poorly defined, defects in nucleocytoplasmic transport and accumulations of specific nuclear-pore-complex-associated proteins have been reported in multiple neurodegenerative diseases, including C9orf72 Amyotrophic Late
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8ad4f799bb0c747ac0c6d23c60551eb0
https://pubmed.ncbi.nlm.nih.gov/32673563
https://pubmed.ncbi.nlm.nih.gov/32673563
Autor:
Frank Rigo, Yuval Salzberg, Gene W. Yeo, Amnon Harel, Jeffrey D. Rothstein, Alyssa N. Coyne, Lindsey R. Hayes, Stefan Aigner, Boris Fitchman, En-Ching Luo, Benjamin L. Zaepfel, Clive N. Svendsen, Dhruv Sareen, Kelly Bowen, Hannah Trost
Publikováno v:
Neuron, vol 107, iss 6
Through mechanisms that remain poorly defined, defects in nucleocytoplasmic transport and accumulations of specific nuclear-pore-complex-associated proteins have been reported in multiple neurodegenerative diseases, including C9orf72 Amyotrophic Late
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb655329ab7326eca0202909f362ffb6
https://doi.org/10.1016/j.neuron.2020.06.027
https://doi.org/10.1016/j.neuron.2020.06.027
Pathogenic Variants in NUP214 Cause 'Plugged' Nuclear Pore Channels and Acute Febrile Encephalopathy
Autor:
Nitzan Biran, Ciro Leonardo Pierri, Somaya Salah, Carolyn D. Applegate, Orly Elpeleg, Boris Fichtman, Tal Gilboa, Giuseppe Punzi, Avraham Shaag, Yuval Salzberg, Ada Hamosh, Nara Sobreira, Houriya Ayoubieh, Amnon Harel, Natalia Simanovsky, Fadia Zagairy, Tamar Harel, Simon Edvardson
Publikováno v:
American journal of human genetics. 105(1)
We report biallelic missense and frameshift pathogenic variants in the gene encoding human nucleoporin NUP214 causing acute febrile encephalopathy. Clinical symptoms include neurodevelopmental regression, seizures, myoclonic jerks, progressive microc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43bf946d8302cef3220cdfe7dda6ebde
https://pubmed.ncbi.nlm.nih.gov/31178128
https://pubmed.ncbi.nlm.nih.gov/31178128