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A Microservices-Based Control Plane for Time-Sensitive Networking

Future internet, 2024-04, Vol.16 (4), p.120

2024

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Hereditary optic neuropathies share a common mitochondrial coupling defect

Annals of neurology, 2008-06, Vol.63 (6), p.794-798

2008

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Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration

BMC research notes, 2011-12, Vol.4 (1), p.557-557, Article 557

2011

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OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Orphanet journal of rare diseases, 2019-09, Vol.14 (1), p.214-214, Article 214

2019

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Genetic susceptibility to optic neuropathy in patients with alcohol use disorder

Journal of translational medicine, 2024-05, Vol.22 (1), p.495-495, Article 495

2024

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Neurotoxicity of Insecticides

Current medicinal chemistry, 2017-08, Vol.24 (27), p.2988

2017

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Endogenous IL-1 receptor antagonist restricts healthy and malignant myeloproliferation

Nature communications, 2023-01, Vol.14 (1), p.12-12, Article 12

2023

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Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

American journal of human genetics, 2014-12, Vol.95 (6), p.637-648

2014

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Resveratrol Induces a Mitochondrial Complex I-dependent Increase in NADH Oxidation Responsible for Sirtuin Activation in Liver Cells

The Journal of biological chemistry, 2013-12, Vol.288 (51), p.36662-36675

2013

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The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

Brain (London, England : 1878), 2023-02, Vol.146 (2), p.455-460

2023

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NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome

Human mutation, 2022-02, Vol.43 (2), p.128-142

2022

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OPA1 -related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Neurobiology of disease, 2016-06, Vol.90, p.20-26

2016

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Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Brain (London, England : 1878), 2014-10, Vol.137 (Pt 10), p.e301-e301

2014

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OPA1-associated disorders: Phenotypes and pathophysiology

The international journal of biochemistry & cell biology, 2009-10, Vol.41 (10), p.1855-1865

2009

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Dominant Optic Atrophy: How to Determine the Pathogenicity of Novel Variants?

Journal of neuro-ophthalmology, 2022-06, Vol.42 (2), p.149-153

2022

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A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders

Investigative ophthalmology & visual science, 2018-01, Vol.59 (1), p.185-195

2018

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Improved Locus-Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data

Human mutation, 2015-01, Vol.36 (1), p.20-25

2015

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Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

Human mutation, 2009-07, Vol.30 (7), p.E692-E705

2009

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Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

Mitochondrion, 2011-01, Vol.11 (1), p.70-75

2011

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The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

Brain (London, England : 1878), 2016-11, Vol.139 (11), p.2864-2876

2016

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Achieving Expert-Level Interpretation of Serum Protein Electrophoresis through Deep Learning Driven by Human Reasoning

Clinical chemistry (Baltimore, Md.), 2021-10, Vol.67 (10), p.1406-1414

2021

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Author Correction: Endogenous IL-1 receptor antagonist restricts healthy and malignant myeloproliferation

Nature communications, 2023-06, Vol.14 (1), p.3874-3874, Article 3874

2023

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ACO2 clinicobiological dataset with extensive phenotype ontology annotation

Scientific data, 2021-08, Vol.8 (1), p.205-205, Article 205

2021

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Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function

The international journal of biochemistry & cell biology, 2012-06, Vol.44 (6), p.980-988

2012

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eOPA1: An online database for OPA1 mutations

Human mutation, 2005-05, Vol.25 (5), p.423-428

2005

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A Microservices-Based Control Plane for Time-Sensitive Networking

Hereditary optic neuropathies share a common mitochondrial coupling defect

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Genetic susceptibility to optic neuropathy in patients with alcohol use disorder

Neurotoxicity of Insecticides

Endogenous IL-1 receptor antagonist restricts healthy and malignant myeloproliferation

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

Resveratrol Induces a Mitochondrial Complex I-dependent Increase in NADH Oxidation Responsible for Sirtuin Activation in Liver Cells

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome

OPA1 -related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

OPA1-associated disorders: Phenotypes and pathophysiology

Dominant Optic Atrophy: How to Determine the Pathogenicity of Novel Variants?

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders

Improved Locus-Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

Achieving Expert-Level Interpretation of Serum Protein Electrophoresis through Deep Learning Driven by Human Reasoning

Author Correction: Endogenous IL-1 receptor antagonist restricts healthy and malignant myeloproliferation

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function

eOPA1: An online database for OPA1 mutations

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