Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance

被引:24
作者
Peeters-Scholte, Cacha M. P. C. D. [1 ]
van Scheltema, Phebe N. Adama [2 ]
Klumper, Frans J. C. M. [2 ]
Everwijn, Sheila M. P. [2 ]
Koopmans, Marije [3 ]
Hoffer, Mariette J. V. [3 ]
Koopmann, Tamara T. [3 ]
Ruivenkamp, Claudia A. L. [3 ]
Steggerda, Sylke J. [4 ]
van der Knaap, Marjo S. [5 ]
Santen, Gijs W. E. [3 ]
机构
[1] Leiden Univ, Dept Neurol, Med Ctr, Leiden, Netherlands
[2] Leiden Univ, Med Ctr, Dept Obstet & Fetal Diag, Leiden, Netherlands
[3] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands
[4] Leiden Univ, Med Ctr, Dept Neonatol, Leiden, Netherlands
[5] Vrije Univ Amsterdam, Med Ctr, Dept Pediat Child Neurol, Amsterdam Neurosci, Amsterdam, Netherlands
关键词
D O I
10.1093/brain/awx239
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页数:4
相关论文
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[1]   ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism [J].
Desai, Radha ;
Frazier, Ann E. ;
Durigon, Romina ;
Patel, Harshil ;
Jones, Aleck W. ;
Rosa, Ilaria Dalla ;
Lake, Nicole J. ;
Compton, Alison G. ;
Mountford, Hayley S. ;
Tucker, Elena J. ;
Mitchell, Alice L. R. ;
Jackson, Deborah ;
Sesay, Abdul ;
Di Re, Miriam ;
van den Heuvel, Lambert P. ;
Burke, Derek ;
Francis, David ;
Lunke, Sebastian ;
McGillivray, George ;
Mandelstam, Simone ;
Mochel, Fanny ;
Keren, Boris ;
Jardel, Claude ;
Turner, Anne M. ;
Andrews, P. Ian ;
Smeitink, Jan ;
Spelbrink, Johannes N. ;
Heales, Simon J. ;
Kohda, Masakazu ;
Ohtake, Akira ;
Murayama, Kei ;
Okazaki, Yasushi ;
Lombes, Anne ;
Holt, Ian J. ;
Thorburn, David R. ;
Spinazzola, Antonella .
BRAIN, 2017, 140 :1595-1610
[2]   Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes [J].
Harel, Tamar ;
Yoon, Wan Hee ;
Garone, Caterina ;
Gu, Shen ;
Coban-Akdemir, Zeynep ;
Eldomery, Mohammad K. ;
Posey, Jennifer E. ;
Jhangiani, Shalini N. ;
Rosenfeld, Jill A. ;
Cho, Megan T. ;
Fox, Stephanie ;
Withers, Marjorie ;
Brooks, Stephanie M. ;
Chiang, Theodore ;
Duraine, Lita ;
Erdin, Serkan ;
Yuan, Bo ;
Shao, Yunru ;
Moussallem, Elie ;
Lamperti, Costanza ;
Donati, Maria A. ;
Smith, Joshua D. ;
McLaughlin, Heather M. ;
Eng, Christine M. ;
Walkiewicz, Magdalena ;
Xia, Fan ;
Pippucci, Tommaso ;
Magini, Pamela ;
Seri, Marco ;
Zeviani, Massimo ;
Hirano, Michio ;
Hunter, Jill V. ;
Srour, Myriam ;
Zanigni, Stefano ;
Lewis, Richard Alan ;
Muzny, Donna M. ;
Lotze, Timothy E. ;
Boerwinkle, Eric ;
Gibbs, Richard A. ;
Hickey, Scott E. ;
Graham, Brett H. ;
Yang, Yaping ;
Buhas, Daniela ;
Martin, Donna M. ;
Potocki, Lorraine ;
Graziano, Claudio ;
Bellen, Hugo J. ;
Lupski, James R. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (04) :831-845