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Bi-allelic ACBD6 Variants Lead to a Neurodevelopmental Syndrome with Progressive and Complex Movement Disorders.

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

Brain（2023）

Cited 0|Views59
Key words
ACBD6,neurodegeneration,dystonia,ataxia,parkinsonism,N-myristoylation
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