Mitochondrial diagnosis revisited

被引:3
作者
Lagan, N. C. [1 ]
Gorman, K. M. [1 ]
King, M. D. [1 ,2 ]
机构
[1] Childrens Univ Hosp, Dept Neurol & Clin Neurophysiol, Temple St, Dublin 1, Ireland
[2] Univ Coll Dublin, Sch Med & Med Sci, Acad Ctr Rare Dis, Dublin, Ireland
关键词
Mitochondrial; DOORS; TBC1D24; Whole exome sequencing; DEFICIENCY;
D O I
10.1016/j.ejpn.2017.03.004
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
页码:685 / 686
页数:2
相关论文
共 50 条
[31]   Mitochondrial interaction with the endosomal compartment in endocytosis and mitochondrial transfer [J].
Todkar, Kiran ;
Chikhi, Lilia ;
Germain, Marc .
MITOCHONDRION, 2019, 49 :284-288
[32]   Mitochondrial ribosomal proteins: Candidate genes for mitochondrial disease [J].
Sylvester, JE ;
Fischel-Ghodsian, N ;
Mougey, EB ;
O'Brien, TW .
GENETICS IN MEDICINE, 2004, 6 (02) :73-80
[33]   Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy [J].
Hannah-Shmouni, Fady ;
MacNeil, Lauren ;
Brady, Lauren ;
Nilsson, Mats, I ;
Tarnopolsky, Mark .
FRONTIERS IN NEUROLOGY, 2019, 10
[34]   Mitochondrial encephalopathy [J].
Longo, N .
NEUROLOGIC CLINICS, 2003, 21 (04) :817-+
[35]   Mitochondrial diseases [J].
Gorman, Grainne S. ;
Chinnery, Patrick F. ;
DiMauro, Salvatore ;
Hirano, Michio ;
Koga, Yasutoshi ;
McFarland, Robert ;
Suomalainen, Anu ;
Thorburn, David R. ;
Zeviani, Massimo ;
Turnbull, Douglass M. .
NATURE REVIEWS DISEASE PRIMERS, 2016, 2 :1-22
[36]   Mitochondrial myopathies [J].
Larsson, NG ;
Oldfors, A .
ACTA PHYSIOLOGICA SCANDINAVICA, 2001, 171 (03) :385-393
[37]   Mitochondrial diseases [J].
Radelfahr, Florentine ;
Klopstock, Thomas .
NERVENARZT, 2019, 90 (02) :121-130
[38]   Mitochondrial disorders [J].
Munnich, Arnold ;
de Lonlay, Pascale ;
Roetig, Agnes ;
Rustin, Pierre .
BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE, 2009, 193 (01) :19-41
[39]   Mitochondrial cytopathies [J].
El-Hattab, Ayman W. ;
Scaglia, Fernando .
CELL CALCIUM, 2016, 60 (03) :199-206
[40]   Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function [J].
Panneman, D. M. ;
Smeitink, J. A. ;
Rodenburg, R. J. .
CLINICAL GENETICS, 2018, 93 (05) :943-951