相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum
Virginia Kimonis et al.
JOURNAL OF MEDICAL GENETICS (2021)
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement
Margherita Protasoni et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement
Marisa W. Friederich et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency
Peggy S. Eis et al.
FRONTIERS IN NEUROLOGY (2020)
Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy
B. Balint et al.
EUROPEAN JOURNAL OF NEUROLOGY (2019)
Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica
Andrew E. Maclean et al.
HUMAN MOLECULAR GENETICS (2018)
Placentation defects are highly prevalent in embryonic lethal mouse mutants
Vicente Perez-Garcia et al.
NATURE (2018)
Structure and function of mitochondrial complex I
Christophe Wirth et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2016)
Novel gene function revealed by mouse mutagenesis screens for models of age-related disease
Paul K. Potter et al.
NATURE COMMUNICATIONS (2016)
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern
Sietske H. Kevelam et al.
NEUROLOGY (2013)
Understanding mitochondrial complex I assembly in health and disease
Masakazu Mimaki et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2012)
Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations
Estelle Valerie Tenisch et al.
NEUROLOGY (2012)
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Sarah E. Calvo et al.
NATURE GENETICS (2010)