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138 Double strand break repair in human mitochondrial extracts

Mitochondrion, 2010-03, Vol.10 (2), p.239

2010

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600: NEW-ONSET ACUTE NEUROLOGIC DEFICITS IN A PATIENT WITH AUTOIMMUNE DISEASE

Critical care medicine, 2018-01, Vol.46 (1 Suppl 1), p.286-286

2018

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Case of a novel genotypic homozygous missense mutation that disrupts oligomerization of SMN protein and causes severe SMA Type 0 (P17-5.002)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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DNA Adducts of Decarbamoyl Mitomycin C Efficiently Kill Cells without Wild-Type p53 Resulting from Proteasome-Mediated Degradation of Checkpoint Protein 1

Chemical research in toxicology, 2010-07, Vol.23 (7), p.1151-1162

2010

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Effects of mutagenesis of residue 221 on the properties of bacterial and mitochondrial elongation factor EF-Tu

Biochimica et biophysica acta, 2004-06, Vol.1699 (1), p.173-182

2004

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eP404 - Re-analysis of exome sequencing data for patients with epilepsy in the NCGENES cohort

Molecular genetics and metabolism, 2021-04, Vol.132, p.S262-S262

2021

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Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment

Therapeutic advances in rare disease, 2024-01, Vol.5, p.26330040241254123-26330040241254123

2024

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A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

Frontiers in cellular neuroscience, 2023-09, Vol.17, p.1259380

2023

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A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

Frontiers in cellular neuroscience, 2023, Vol.17, p.1259380-1259380

2023

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Initiation and Elongation Factors in Mammalian Mitochondrial Protein Biosynthesis

Progress in Nucleic Acid Research and Molecular Biology, 2004, Vol.77, p.211-261

2004

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Interaction of mitochondrial elongation factor Tu with aminoacyl-tRNAs

Mitochondrion, 2004-06, Vol.4 (1), p.21-29

2004

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Mitochondrial DNA damage induced autophagy, cell death, and disease

Frontiers in bioscience, 2016-01, Vol.21 (1), p.42-54, Article 4375

2016

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Mitochondrial studies in NUBPL associated mitochondrial Complex I deficiency in a family with global developmental delays, ataxia, and cerebellar and pons hypoplasia

Mitochondrion, 2015-09, Vol.24, p.S43

2015

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MRI predictors of long-term outcomes of neonatal hypoxic ischaemic encephalopathy: a primer for radiologists

British journal of radiology, 2024-05, Vol.97 (1158), p.1067-1077

2024

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A Multicenter Training and Interrater Reliability Study of the BASED Score for Infantile Epileptic Spasms Syndrome

Journal of clinical neurophysiology, 2024-07

2024

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Mutagenesis of Arg335 in Bovine Mitochondrial Elongation Factor Tu and the Corresponding Residue in the Escherichia coli Factor Affects Interactions with Mitochondrial Aminoacyl-tRNAs

RNA biology, 2004-07, Vol.1 (2), p.95-102

2004

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Mutagenesis of Glutamine 290 in Escherichia coli and Mitochondrial Elongation Factor Tu Affects Interactions with Mitochondrial Aminoacyl-tRNAs and GTPase Activity

Biochemistry (Easton), 2004-06, Vol.43 (22), p.6917-6927

2004

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Patient Factors Predictive of the Use of Genetic Testing in Infantile Spasms (P1-1.Virtual)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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The QPCR assay for analysis of mitochondrial DNA damage, repair, and relative copy number

Methods (San Diego, Calif.), 2010-08, Vol.51 (4), p.444-451

2010

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Re-analysis of exome sequencing data for patients with epilepsy in the NCGENES cohort

Molecular genetics and metabolism, 2021-04, Vol.132, p.S262

2021

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Recurrent acute hemorrhagic necrotizing encephalopathy associated with RAN-binding protein-2 gene mutation in a pediatric patient

BJR case reports, 2022, Vol.8 (6), p.20220019-20220019

2022

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Recurrent acute hemorrhagic necrotizing encephalopathy associated with RAN-binding protein-2 gene mutation in a pediatric patient

BJR case reports, 2022-11, Vol.8 (6), p.20220019

2022

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Resting-State Functional Magnetic Resonance Imaging Network Association With Mortality, Epilepsy, Cognition, and Motor Two-Year Outcomes in Suspected Severe Neonatal Acute Brain Injury

Pediatric neurology, 2024-03, Vol.152, p.41-55

2024

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Role of residues in domain II of elongation factor Tu in protein synthesis

Hunter, Senyene Amajak Eyo

2003

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In vivo repair of alkylating and oxidative DNA damage in the mitochondrial and nuclear genomes of wild-type and glycosylase-deficient Caenorhabditis elegans

DNA repair, 2012-11, Vol.11 (11), p.857-863

2012

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138 Double strand break repair in human mitochondrial extracts

600: NEW-ONSET ACUTE NEUROLOGIC DEFICITS IN A PATIENT WITH AUTOIMMUNE DISEASE

Case of a novel genotypic homozygous missense mutation that disrupts oligomerization of SMN protein and causes severe SMA Type 0 (P17-5.002)

DNA Adducts of Decarbamoyl Mitomycin C Efficiently Kill Cells without Wild-Type p53 Resulting from Proteasome-Mediated Degradation of Checkpoint Protein 1

Effects of mutagenesis of residue 221 on the properties of bacterial and mitochondrial elongation factor EF-Tu

eP404 - Re-analysis of exome sequencing data for patients with epilepsy in the NCGENES cohort

Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

Initiation and Elongation Factors in Mammalian Mitochondrial Protein Biosynthesis

Interaction of mitochondrial elongation factor Tu with aminoacyl-tRNAs

Mitochondrial DNA damage induced autophagy, cell death, and disease

Mitochondrial studies in NUBPL associated mitochondrial Complex I deficiency in a family with global developmental delays, ataxia, and cerebellar and pons hypoplasia

MRI predictors of long-term outcomes of neonatal hypoxic ischaemic encephalopathy: a primer for radiologists

A Multicenter Training and Interrater Reliability Study of the BASED Score for Infantile Epileptic Spasms Syndrome

Mutagenesis of Arg335 in Bovine Mitochondrial Elongation Factor Tu and the Corresponding Residue in the Escherichia coli Factor Affects Interactions with Mitochondrial Aminoacyl-tRNAs

Mutagenesis of Glutamine 290 in Escherichia coli and Mitochondrial Elongation Factor Tu Affects Interactions with Mitochondrial Aminoacyl-tRNAs and GTPase Activity

Patient Factors Predictive of the Use of Genetic Testing in Infantile Spasms (P1-1.Virtual)

The QPCR assay for analysis of mitochondrial DNA damage, repair, and relative copy number

Re-analysis of exome sequencing data for patients with epilepsy in the NCGENES cohort

Recurrent acute hemorrhagic necrotizing encephalopathy associated with RAN-binding protein-2 gene mutation in a pediatric patient

Recurrent acute hemorrhagic necrotizing encephalopathy associated with RAN-binding protein-2 gene mutation in a pediatric patient

Resting-State Functional Magnetic Resonance Imaging Network Association With Mortality, Epilepsy, Cognition, and Motor Two-Year Outcomes in Suspected Severe Neonatal Acute Brain Injury

Role of residues in domain II of elongation factor Tu in protein synthesis

In vivo repair of alkylating and oxidative DNA damage in the mitochondrial and nuclear genomes of wild-type and glycosylase-deficient Caenorhabditis elegans

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