Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W.; Godwin, Annie; Zaki, Maha S.; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A.; Rudnik-Schoeneborn, Sabine; Schatz, Ulrich A.; Baggelaar, Marc P.; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Basto, Jorge Pinto; Kortuem, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A.; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenco, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W.; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R.; Zaman, Mashaya; Schrader, Tina A.; Chung, Wendy K.; Guerrini, Renzo; Lupski, James R.; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P.; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W.; Varshney, Gaurav K.; Houlden, Henry; Maroofian, Reza

dc.contributor.author	Rad, Aboulfazl
dc.contributor.author	Vona, Barbara
dc.contributor.author	Varshney, Gaurav K.
dc.date.accessioned	2024-10-14T10:50:00Z
dc.date.available	2024-10-14T10:50:00Z
dc.date.issued	2024
dc.identifier.issn	0006-8950
dc.identifier.uri	http://hdl.handle.net/10900/158249
dc.language.iso	en	en
dc.publisher	Oxford : Oxford Univ Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1093/brain/awad380
dc.subject.ddc	610	de_DE
dc.subject.ddc	570	de_DE
dc.title	Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders	de_DE
dc.type	Article	de_DE
utue.quellen.id	20240730000000_00632
utue.publikation.seiten	1436-1456	de_DE
utue.personen.roh	Kaiyrzhanov, Rauan
utue.personen.roh	Rad, Aboulfazl
utue.personen.roh	Lin, Sheng-Jia
utue.personen.roh	Bertoli-Avella, Aida
utue.personen.roh	Kallemeijn, Wouter W.
utue.personen.roh	Godwin, Annie
utue.personen.roh	Zaki, Maha S.
utue.personen.roh	Huang, Kevin
utue.personen.roh	Lau, Tracy
utue.personen.roh	Petree, Cassidy
utue.personen.roh	Efthymiou, Stephanie
utue.personen.roh	Karimiani, Ehsan Ghayoor
utue.personen.roh	Hempel, Maja
utue.personen.roh	Normand, Elizabeth A.
utue.personen.roh	Rudnik-Schoeneborn, Sabine
utue.personen.roh	Schatz, Ulrich A.
utue.personen.roh	Baggelaar, Marc P.
utue.personen.roh	Ilyas, Muhammad
utue.personen.roh	Sultan, Tipu
utue.personen.roh	Alvi, Javeria Raza
utue.personen.roh	Ganieva, Manizha
utue.personen.roh	Fowler, Ben
utue.personen.roh	Aanicai, Ruxandra
utue.personen.roh	Tayfun, Gulsen Akay
utue.personen.roh	Al Saman, Abdulaziz
utue.personen.roh	Alswaid, Abdulrahman
utue.personen.roh	Amiri, Nafise
utue.personen.roh	Asilova, Nilufar
utue.personen.roh	Shotelersuk, Vorasuk
utue.personen.roh	Yeetong, Patra
utue.personen.roh	Azam, Matloob
utue.personen.roh	Babaei, Meisam
utue.personen.roh	Monajemi, Gholamreza Bahrami
utue.personen.roh	Mohammadi, Pouria
utue.personen.roh	Samie, Saeed
utue.personen.roh	Banu, Selina Husna
utue.personen.roh	Basto, Jorge Pinto
utue.personen.roh	Kortuem, Fanny
utue.personen.roh	Bauer, Mislen
utue.personen.roh	Bauer, Peter
utue.personen.roh	Beetz, Christian
utue.personen.roh	Garshasbi, Masoud
utue.personen.roh	Issa, Awatif Hameed
utue.personen.roh	Eyaid, Wafaa
utue.personen.roh	Ahmed, Hind
utue.personen.roh	Hashemi, Narges
utue.personen.roh	Hassanpour, Kazem
utue.personen.roh	Herman, Isabella
utue.personen.roh	Ibrohimov, Sherozjon
utue.personen.roh	Abdul-Majeed, Ban A.
utue.personen.roh	Imdad, Maria
utue.personen.roh	Isrofilov, Maksudjon
utue.personen.roh	Kaiyal, Qassem
utue.personen.roh	Khan, Suliman
utue.personen.roh	Kirmse, Brian
utue.personen.roh	Koster, Janet
utue.personen.roh	Lourenco, Charles Marques
utue.personen.roh	Mitani, Tadahiro
utue.personen.roh	Moldovan, Oana
utue.personen.roh	Murphy, David
utue.personen.roh	Najafi, Maryam
utue.personen.roh	Pehlivan, Davut
utue.personen.roh	Rocha, Maria Eugenia
utue.personen.roh	Salpietro, Vincenzo
utue.personen.roh	Schmidts, Miriam
utue.personen.roh	Shalata, Adel
utue.personen.roh	Mahroum, Mohammad
utue.personen.roh	Talbeya, Jawabreh Kassem
utue.personen.roh	Taylor, Robert W.
utue.personen.roh	Vazquez, Dayana
utue.personen.roh	Vetro, Annalisa
utue.personen.roh	Waterham, Hans R.
utue.personen.roh	Zaman, Mashaya
utue.personen.roh	Schrader, Tina A.
utue.personen.roh	Chung, Wendy K.
utue.personen.roh	Guerrini, Renzo
utue.personen.roh	Lupski, James R.
utue.personen.roh	Gleeson, Joseph
utue.personen.roh	Suri, Mohnish
utue.personen.roh	Jamshidi, Yalda
utue.personen.roh	Bhatia, Kailash P.
utue.personen.roh	Vona, Barbara
utue.personen.roh	Schrader, Michael
utue.personen.roh	Severino, Mariasavina
utue.personen.roh	Guille, Matthew
utue.personen.roh	Tate, Edward W.
utue.personen.roh	Varshney, Gaurav K.
utue.personen.roh	Houlden, Henry
utue.personen.roh	Maroofian, Reza
dcterms.isPartOf.ZSTitelID	Brain	de_DE
dcterms.isPartOf.ZS-Issue	4	de_DE
dcterms.isPartOf.ZS-Volume	147	de_DE
utue.fakultaet	04 Medizinische Fakultät