Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R.; Foley, A. Reghan; Fare, Charlotte M.; Ford, Alice F.; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G.; Buchert, Rebecca; Grimmel, Mona; Topf, Ana; Zaharieva, Irina T.; Brady, Lauren; Hu, Ying; Lloyd, Thomas E.; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Pereon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E.; Shatillo, Andriy; Raymond, F. Lucy; Haack, Tobias; Quijano-Roy, Susana; Bohm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B.; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A.; Shorter, James; Bonnemann, Carsten G.; Taylor, J. Paul

dc.contributor.author	Buchert, Rebecca
dc.contributor.author	Grimmel, Mona
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2022-12-19T11:50:22Z
dc.date.available	2022-12-19T11:50:22Z
dc.date.issued	2022
dc.identifier.issn	2041-1723
dc.identifier.uri	http://hdl.handle.net/10900/134298
dc.language.iso	en	de_DE
dc.publisher	Nature Portfolio	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41467-022-30015-1	de_DE
dc.subject.ddc	500	de_DE
dc.title	Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20220728000000_01064
utue.personen.roh	Kim, Hong Joo
utue.personen.roh	Mohassel, Payam
utue.personen.roh	Donkervoort, Sandra
utue.personen.roh	Guo, Lin
utue.personen.roh	O'Donovan, Kevin
utue.personen.roh	Coughlin, Maura
utue.personen.roh	Lornage, Xaviere
utue.personen.roh	Foulds, Nicola
utue.personen.roh	Hammans, Simon R.
utue.personen.roh	Foley, A. Reghan
utue.personen.roh	Fare, Charlotte M.
utue.personen.roh	Ford, Alice F.
utue.personen.roh	Ogasawara, Masashi
utue.personen.roh	Sato, Aki
utue.personen.roh	Iida, Aritoshi
utue.personen.roh	Munot, Pinki
utue.personen.roh	Ambegaonkar, Gautam
utue.personen.roh	Phadke, Rahul
utue.personen.roh	O'Donovan, Dominic G.
utue.personen.roh	Buchert, Rebecca
utue.personen.roh	Grimmel, Mona
utue.personen.roh	Topf, Ana
utue.personen.roh	Zaharieva, Irina T.
utue.personen.roh	Brady, Lauren
utue.personen.roh	Hu, Ying
utue.personen.roh	Lloyd, Thomas E.
utue.personen.roh	Klein, Andrea
utue.personen.roh	Steinlin, Maja
utue.personen.roh	Kuster, Alice
utue.personen.roh	Mercier, Sandra
utue.personen.roh	Marcorelles, Pascale
utue.personen.roh	Pereon, Yann
utue.personen.roh	Fleurence, Emmanuelle
utue.personen.roh	Manzur, Adnan
utue.personen.roh	Ennis, Sarah
utue.personen.roh	Upstill-Goddard, Rosanna
utue.personen.roh	Bello, Luca
utue.personen.roh	Bertolin, Cinzia
utue.personen.roh	Pegoraro, Elena
utue.personen.roh	Salviati, Leonardo
utue.personen.roh	French, Courtney E.
utue.personen.roh	Shatillo, Andriy
utue.personen.roh	Raymond, F. Lucy
utue.personen.roh	Haack, Tobias
utue.personen.roh	Quijano-Roy, Susana
utue.personen.roh	Bohm, Johann
utue.personen.roh	Nelson, Isabelle
utue.personen.roh	Stojkovic, Tanya
utue.personen.roh	Evangelista, Teresinha
utue.personen.roh	Straub, Volker
utue.personen.roh	Romero, Norma B.
utue.personen.roh	Laporte, Jocelyn
utue.personen.roh	Muntoni, Francesco
utue.personen.roh	Nishino, Ichizo
utue.personen.roh	Tarnopolsky, Mark A.
utue.personen.roh	Shorter, James
utue.personen.roh	Bonnemann, Carsten G.
utue.personen.roh	Taylor, J. Paul
dcterms.isPartOf.ZSTitelID	Nature Communications	de_DE
dcterms.isPartOf.ZS-Issue	Article 2306	de_DE
dcterms.isPartOf.ZS-Volume	13 (1)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE