De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Manole, Andreea; Efthymiou, Stephanie; O'Connor, Emer; Mendes, Marisa, I; Jennings, Matthew; Maroofian, Reza; Davagnanam, Indran; Mankad, Kshitij; Lopez, Maria Rodriguez; Salpietro, Vincenzo; Harripaul, Ricardo; Badalato, Lauren; Walia, Jagdeep; Francklyn, Christopher S.; Athanasiou-Fragkouli, Alkyoni; Sullivan, Roisin; Desai, Sonal; Baranano, Kristin; Zafar, Faisal; Rana, Nuzhat; Ilyas, Muhammed; Horga, Alejandro; Kara, Majdi; Mattioli, Francesca; Goldenberg, Alice; Griffin, Helen; Piton, Amelie; Henderson, Lindsay B.; Kara, Benyekhlef; Aslanger, Ayca Dilruba; Raaphorst, Joost; Pfundt, Rolph; Portier, Ruben; Shinawi, Marwan; Kirby, Amelia; Christensen, Katherine M.; Wang, Lu; Rosti, Rasim O.; Paracha, Sohail A.; Sarwar, Muhammad T.; Jenkins, Dagan; Ahmed, Jawad; Santoni, Federico A.; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Cytrynbaum, Cheryl; Weksberg, Rosanna; Wentzensen, Ingrid M.; Sacoto, Maria J. Guillen; Si, Yue; Telegrafi, Aida; Andrews, Marisa, V; Baldridge, Dustin; Gabriel, Heinz; Mohr, Julia; Oehl-Jaschkowitz, Barbara; Debard, Sylvain; Senger, Bruno; Fischer, Frederic; van Ravenwaaij, Conny; Fock, Annemarie J. M.; Stevens, Servi J. C.; Bahler, Jurg; Nasar, Amina; Mantovani, John F.; Manzur, Adnan; Sarkozy, Anna; Smith, Desiree E. C.; Salomons, Gajja S.; Ahmed, Zubair M.; Riazuddin, Shaikh; Riazuddin, Saima; Usmani, Muhammad A.; Seibt, Annette; Ansar, Muhammad; Antonarakis, Stylianos E.; Vincent, John B.; Ayub, Muhammad; Grimmel, Mona; Jelsig, Anne Marie; Hjortshoj, Tina Duelund; Karstensen, Helena Gasdal; Hummel, Marybeth; Haack, Tobias B.; Jamshidi, Yalda; Distelmaier, Felix; Horvath, Rita; Gleeson, Joseph G.; Becker, Hubert; Mandel, Jean-Louis; Koolen, David A.; Houlden, Henry

dc.contributor.author	Grimmel, Mona
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2020-12-07T10:00:42Z
dc.date.available	2020-12-07T10:00:42Z
dc.date.issued	2020
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/110328
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2020.06.016	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects	de_DE
dc.type	Article	de_DE
utue.quellen.id	20200929220116_00282
utue.publikation.seiten	311-324	de_DE
utue.personen.roh	Manole, Andreea
utue.personen.roh	Efthymiou, Stephanie
utue.personen.roh	O'Connor, Emer
utue.personen.roh	Mendes, Marisa, I
utue.personen.roh	Jennings, Matthew
utue.personen.roh	Maroofian, Reza
utue.personen.roh	Davagnanam, Indran
utue.personen.roh	Mankad, Kshitij
utue.personen.roh	Lopez, Maria Rodriguez
utue.personen.roh	Salpietro, Vincenzo
utue.personen.roh	Harripaul, Ricardo
utue.personen.roh	Badalato, Lauren
utue.personen.roh	Walia, Jagdeep
utue.personen.roh	Francklyn, Christopher S.
utue.personen.roh	Athanasiou-Fragkouli, Alkyoni
utue.personen.roh	Sullivan, Roisin
utue.personen.roh	Desai, Sonal
utue.personen.roh	Baranano, Kristin
utue.personen.roh	Zafar, Faisal
utue.personen.roh	Rana, Nuzhat
utue.personen.roh	Ilyas, Muhammed
utue.personen.roh	Horga, Alejandro
utue.personen.roh	Kara, Majdi
utue.personen.roh	Mattioli, Francesca
utue.personen.roh	Goldenberg, Alice
utue.personen.roh	Griffin, Helen
utue.personen.roh	Piton, Amelie
utue.personen.roh	Henderson, Lindsay B.
utue.personen.roh	Kara, Benyekhlef
utue.personen.roh	Aslanger, Ayca Dilruba
utue.personen.roh	Raaphorst, Joost
utue.personen.roh	Pfundt, Rolph
utue.personen.roh	Portier, Ruben
utue.personen.roh	Shinawi, Marwan
utue.personen.roh	Kirby, Amelia
utue.personen.roh	Christensen, Katherine M.
utue.personen.roh	Wang, Lu
utue.personen.roh	Rosti, Rasim O.
utue.personen.roh	Paracha, Sohail A.
utue.personen.roh	Sarwar, Muhammad T.
utue.personen.roh	Jenkins, Dagan
utue.personen.roh	Ahmed, Jawad
utue.personen.roh	Santoni, Federico A.
utue.personen.roh	Ranza, Emmanuelle
utue.personen.roh	Iwaszkiewicz, Justyna
utue.personen.roh	Cytrynbaum, Cheryl
utue.personen.roh	Weksberg, Rosanna
utue.personen.roh	Wentzensen, Ingrid M.
utue.personen.roh	Sacoto, Maria J. Guillen
utue.personen.roh	Si, Yue
utue.personen.roh	Telegrafi, Aida
utue.personen.roh	Andrews, Marisa, V
utue.personen.roh	Baldridge, Dustin
utue.personen.roh	Gabriel, Heinz
utue.personen.roh	Mohr, Julia
utue.personen.roh	Oehl-Jaschkowitz, Barbara
utue.personen.roh	Debard, Sylvain
utue.personen.roh	Senger, Bruno
utue.personen.roh	Fischer, Frederic
utue.personen.roh	van Ravenwaaij, Conny
utue.personen.roh	Fock, Annemarie J. M.
utue.personen.roh	Stevens, Servi J. C.
utue.personen.roh	Bahler, Jurg
utue.personen.roh	Nasar, Amina
utue.personen.roh	Mantovani, John F.
utue.personen.roh	Manzur, Adnan
utue.personen.roh	Sarkozy, Anna
utue.personen.roh	Smith, Desiree E. C.
utue.personen.roh	Salomons, Gajja S.
utue.personen.roh	Ahmed, Zubair M.
utue.personen.roh	Riazuddin, Shaikh
utue.personen.roh	Riazuddin, Saima
utue.personen.roh	Usmani, Muhammad A.
utue.personen.roh	Seibt, Annette
utue.personen.roh	Ansar, Muhammad
utue.personen.roh	Antonarakis, Stylianos E.
utue.personen.roh	Vincent, John B.
utue.personen.roh	Ayub, Muhammad
utue.personen.roh	Grimmel, Mona
utue.personen.roh	Jelsig, Anne Marie
utue.personen.roh	Hjortshoj, Tina Duelund
utue.personen.roh	Karstensen, Helena Gasdal
utue.personen.roh	Hummel, Marybeth
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Jamshidi, Yalda
utue.personen.roh	Distelmaier, Felix
utue.personen.roh	Horvath, Rita
utue.personen.roh	Gleeson, Joseph G.
utue.personen.roh	Becker, Hubert
utue.personen.roh	Mandel, Jean-Louis
utue.personen.roh	Koolen, David A.
utue.personen.roh	Houlden, Henry
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	107	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE