Contribution of polg1 mutations to nuclear-mitochondrial intergenomic communication disorders

被引:0
|
作者
Ferreira, M. [1 ]
Evangelista, T. [2 ]
Rosas, M. J. [3 ]
Macario, M. C. [4 ]
Guimaraes, A. [5 ]
Santorelli, F. M.
Vilarinho, L. [1 ]
机构
[1] Hosp Sta Maria, Lisbon, Portugal
[2] Hosp Sao Joao, Oporto, Portugal
[3] HUC, Coimbra, Portugal
[4] HGSA, Oporto, Portugal
[5] Osped Bambino Gesu, Rome, Italy
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
235
引用
收藏
页码:60 / 60
页数:1
相关论文
共 50 条
  • [21] POLG1 MUTATIONS: LESSONS LEARNED.
    Malla, I.
    Selzer, E.
    Sanchez, F.
    Donato, M.
    Flesler, S.
    Lagues, C.
    Amartino, H.
    PEDIATRIC TRANSPLANTATION, 2017, 21 : 49 - 49
  • [22] Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)
    Poulton, J.
    Hirano, M.
    Spinazzola, A.
    Hernandez, M. Arenas
    Jardel, C.
    Lombes, A.
    Czermin, B.
    Horvath, R.
    Taanman, J. W.
    Rotig, A.
    Zeviani, M.
    Fratter, C.
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2009, 1792 (12): : 1109 - 1112
  • [23] Screening for POLG1 mutations in a Southern Italian population
    Criscuolo, Chiara
    Ammendola, Sarah
    Cicala, Domenico
    Banfi, Sandro
    Filla, Alessandro
    NEUROLOGY, 2008, 70 (11) : A483 - A483
  • [24] SANDO: Two novel mutations in POLG1 gene
    Gago, Miguel Fernandes
    Rosas, M. J.
    Guirnaraes, Joana
    Ferreira, Mariana
    Vilarinho, Laura
    Castro, Ligia
    Carpenter, Stirling
    NEUROMUSCULAR DISORDERS, 2006, 16 (08) : 507 - 509
  • [25] Phenotypic Variations in 3 Children With POLG1 Mutations
    Burusnukul, Prinyarat
    de los Reyes, Emily C.
    JOURNAL OF CHILD NEUROLOGY, 2009, 24 (04) : 482 - 486
  • [26] POLG1 mutations associated with progressive encephalopathy in childhood
    Kollberg, Gittan
    Moslemi, Ali-Reza
    Darin, Niklds
    Nennesmo, Inger
    Bjamadottir, Ingibjorg
    Uvebrant, Paul
    Holme, Elisabeth
    Melberg, Atle
    Tulinius, Mar
    Oldfors, Anders
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2006, 65 (08): : 758 - 768
  • [27] STROKE IN PATIENTS WITH POLYMERASE GAMMA 1 (POLG1) MUTATIONS
    Gavrilova, R. H.
    Zabel, C. A.
    Swanson, J. W.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S87 - S87
  • [28] Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy
    Gramstad, Arne
    Bindoff, Laurence A.
    Lillebo, Atle
    Tzoulis, Charalampos
    Engelsen, Bernt A.
    EPILEPSY & BEHAVIOR, 2009, 16 (01) : 172 - 174
  • [29] Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations
    Ashley, Neil
    O'Rourke, Anthony
    Smith, Conrad
    Adams, Susan
    Gowda, Vasantha
    Zeviani, Massimo
    Brown, Garry K.
    Fratter, Carl
    Poulton, Joanna
    HUMAN MOLECULAR GENETICS, 2008, 17 (16) : 2496 - 2506
  • [30] Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations
    Sha Tang
    Elliot L. Dimberg
    Margherita Milone
    Lee-Jun C. Wong
    Journal of Neurology, 2012, 259 : 862 - 868