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Growth arrest specific protein (GAS) 6: a role in the regulation of proliferation and functional capacity of the perinatal rat beta cell

Diabetologia, 2013-04, Vol.56 (4), p.763-773

2013

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Ultra-High Total Ionizing Dose Effects in a Highly Integrated and RF-Agile Transceiver

2020 IEEE Radiation Effects Data Workshop (in conjunction with 2020 NSREC), 2020, p.1-4

2020

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Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

Journal of neurology, neurosurgery and psychiatry, 2006-01, Vol.77 (1), p.74-76

2006

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Identification of expandable human hepatic progenitors which differentiate into mature hepatic cells in vivo

Gut, 2005-07, Vol.54 (7), p.972-979

2005

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The Pathophysiology of Acute Graft‐Versus‐Host Disease

Scandinavian journal of immunology, 2005-05, Vol.61 (5), p.398-409

2005

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Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

Human molecular genetics, 2000-03, Vol.9 (5), p.795-801

2000

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Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy

Neuromuscular disorders : NMD, 2005-12, Vol.15 (12), p.851-857

2005

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Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: Is there a potential effect of copper?

Journal of inherited metabolic disease, 2004-01, Vol.27 (1), p.67-79

2004

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Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts

Human molecular genetics, 2001-12, Vol.10 (26), p.3025-3035

2001

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Population Genetics and Disease Susceptibility: Characterization of Central European Haplogroups By mtDNA Gene Mutations, Correlation with D Loop Variants and Association With Disease

Human molecular genetics, 1997-10, Vol.6 (11), p.1835-1846

1997

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Phenotype variability in 130 adult patients with respiratory chain disorders

Journal of inherited metabolic disease, 2001-10, Vol.24 (5), p.560-576

2001

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A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

Journal of medical genetics, 2000-09, Vol.37 (9), p.669-673

2000

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Debugging Xilinx Zynq-7000 SoC Processor Caches during Linux System Execution under Proton Irradiation

2022 IEEE Radiation Effects Data Workshop (REDW) (in conjunction with 2022 NSREC), 2022, p.1-4

2022

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Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency

Annals of neurology, 1999-08, Vol.46 (2), p.161-166

1999

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Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

Neurology, 2001-10, Vol.57 (8), p.1440

2001

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MITOP, the mitochondrial proteome database: 2000 update

Nucleic acids research, 2000-01, Vol.28 (1), p.155

2000

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Two families with autosomal dominant progressive external ophthalmoplegia

Journal of neurology, neurosurgery and psychiatry, 2004-08, Vol.75 (8), p.1125-1128

2004

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Biliary Epithelial Cell Antibodies Link Adaptive and Innate Immune Responses in Primary Sclerosing Cholangitis

Gastroenterology (New York, N.Y. 1943), 2007-04, Vol.132 (4), p.1504-1514

2007

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Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism

Journal of inherited metabolic disease, 2005-08, Vol.28 (4), p.479-492

2005

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A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract

Neurology, 2001-11, Vol.57 (10), p.1930

2001

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Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase

Human molecular genetics, 2004-09, Vol.13 (17), p.1839-1848

2004

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Increased levels of immune transcript in patients with acute GVHD after allogeneic stem cell transplantation

Bone marrow transplantation (Basingstoke), 2003-02, Vol.31 (3), p.183-190

2003

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Ischemia-reperfusion injury and pregnancy initiate time-dependent and robust signs of up-regulation of cardiac progenitor cells

PloS one, 2012-05, Vol.7 (5), p.e36804-e36804

2012

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Different clinical aspects of debrancher deficiency myopathy

Journal of Neurology, Neurosurgery and Psychiatry, 1999-09, Vol.67 (3), p.364-368

1999

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Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene

Journal of medical genetics, 2004-06, Vol.41 (6), p.e75-e75

2004

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Growth arrest specific protein (GAS) 6: a role in the regulation of proliferation and functional capacity of the perinatal rat beta cell

Ultra-High Total Ionizing Dose Effects in a Highly Integrated and RF-Agile Transceiver

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

Identification of expandable human hepatic progenitors which differentiate into mature hepatic cells in vivo

The Pathophysiology of Acute Graft‐Versus‐Host Disease

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: Is there a potential effect of copper?

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts

Population Genetics and Disease Susceptibility: Characterization of Central European Haplogroups By mtDNA Gene Mutations, Correlation with D Loop Variants and Association With Disease

Phenotype variability in 130 adult patients with respiratory chain disorders

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

Debugging Xilinx Zynq-7000 SoC Processor Caches during Linux System Execution under Proton Irradiation

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

MITOP, the mitochondrial proteome database: 2000 update

Two families with autosomal dominant progressive external ophthalmoplegia

Biliary Epithelial Cell Antibodies Link Adaptive and Innate Immune Responses in Primary Sclerosing Cholangitis

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism

A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract

Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase

Increased levels of immune transcript in patients with acute GVHD after allogeneic stem cell transplantation

Ischemia-reperfusion injury and pregnancy initiate time-dependent and robust signs of up-regulation of cardiac progenitor cells

Different clinical aspects of debrancher deficiency myopathy

Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene

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