Mitochondrial Diseases

Calcium Release from Intra-Axonal Endoplasmic Reticulum Leads to Axon Degeneration through Mitochondrial Dysfunction

Neuroscience / Calcium / Transmission Electron Microscopy / Pregnancy / Reactive Oxygen Species / Mice / Female / Animals / Male / Endoplasmic Reticulum / Three Dimensional Imaging / Mitochondrial Diseases / Rats / Sciatic Nerve / Axons / Mice / Female / Animals / Male / Endoplasmic Reticulum / Three Dimensional Imaging / Mitochondrial Diseases / Rats / Sciatic Nerve / Axons

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¿Se esconde la Miopatía Mitocondrial debajo de pacientes diagnosticados de Fibromialgia o de Síndrome de fatiga crónica? Investigaciones recientes los confirman.

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Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

Genetics / Ethics / Human Genetics / Informed Consent / Molecular Genetics / Genetic counseling / Cytogenetics / Clinical Practice / Pregnancy / Mitochondrial DNA / Humans / Genetic Testing / Mutation / Female / Feasibility Studies / Clinical Genetics / Preimplantation genetic diagnosis / Embryo Research / Mitochondrial Diseases / Scientific Research / Minor / Health risk / Embryos / Clinical Application / Good Clinical Practice in Clinical Trials / Genetic counseling / Cytogenetics / Clinical Practice / Pregnancy / Mitochondrial DNA / Humans / Genetic Testing / Mutation / Female / Feasibility Studies / Clinical Genetics / Preimplantation genetic diagnosis / Embryo Research / Mitochondrial Diseases / Scientific Research / Minor / Health risk / Embryos / Clinical Application / Good Clinical Practice in Clinical Trials

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A primigravida with very-long-chain acyl-CoA dehydrogenase deficiency

Heart Failure / Humans / Mutation / Female / Differential Diagnosis / Mitochondrial Diseases / Adult / Cardiomyopathies / Mitochondrial Diseases / Adult / Cardiomyopathies

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Case 28-2008

Magnetic Resonance Imaging / England / Cerebrospinal Fluid / Hypothermia / Brain / Humans / Mutation / Male / Differential Diagnosis / Newborn Infant / Mitochondrial Diseases / New England Journalof Medicine / Brain Diseases / Lethargy / Humans / Mutation / Male / Differential Diagnosis / Newborn Infant / Mitochondrial Diseases / New England Journalof Medicine / Brain Diseases / Lethargy

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Mitochondrial diseases Part I: Mouse models of oxphos deficiencies caused by defects on respiratory complex subunits or assembly factors

Genetics / Humans / Mice / Animals / Mitochondrial Diseases / Oxidative phosphorylation

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Mitochondrial diseases Part I: Mouse models of oxphos deficiencies caused by defects on respiratory complex subunits or assembly factors

Genetics / Humans / Mice / Animals / Mitochondrial Diseases / Oxidative phosphorylation

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Cytochrome c oxidase deficiency: Patients and animal models

Mitochondria / Biological Sciences / Humans / Animals / Physical sciences / Neurons / Behavioral Animal Models / Clinical Sciences / Mitochondrial Diseases / Oxidative phosphorylation / Biochemistry and cell biology / Neurons / Behavioral Animal Models / Clinical Sciences / Mitochondrial Diseases / Oxidative phosphorylation / Biochemistry and cell biology

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Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

Magnetic Resonance Imaging / Epilepsy / Electroencephalography / Magnetic Resonance Spectroscopy / Energy Metabolism / Stroke / Brain / Mitochondrial DNA / Humans / Cerebellum / Thalamus / Mutation / Mitochondrial Diseases / Neocortex / Arginine / Disease Progression / Cysteine / Glycine / Sensitivity and Specificity / X ray Computed Tomography / Syndrome / DNA Polymerase / Brain Diseases / Magnetic resonance angiography / Stroke / Brain / Mitochondrial DNA / Humans / Cerebellum / Thalamus / Mutation / Mitochondrial Diseases / Neocortex / Arginine / Disease Progression / Cysteine / Glycine / Sensitivity and Specificity / X ray Computed Tomography / Syndrome / DNA Polymerase / Brain Diseases / Magnetic resonance angiography

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Complex I deficiency and dopaminergic neuronal cell loss in parkin-deficient zebrafish (Danio rerio)

Genetics / Electron Microscopy / Motor neuron / Swimming / Brain development / Danio rerio / Neuronal cell death / Dopamine / Brain / Animals / Drug Screening / Animal Model / Mitochondrial Respiratory Chain / Substantia nigra / Neurons / Mitochondrial Diseases / Embryonic Development / Very high throughput / Zebrafish / Embryos / Parkinson Disease / Danio rerio / Neuronal cell death / Dopamine / Brain / Animals / Drug Screening / Animal Model / Mitochondrial Respiratory Chain / Substantia nigra / Neurons / Mitochondrial Diseases / Embryonic Development / Very high throughput / Zebrafish / Embryos / Parkinson Disease

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Complimentary Contributor Copy: Muscular Dystrophy Causes and Management

Mitochondrial Diseases

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Normal Serum Alanine Concentration Differentiates Transient Neonatal Lactic Acidemia from an Inborn Error of Energy Metabolism

Decision Making / Energy Metabolism / Mitochondrial DNA / Humans / Mutation / Inborn errors of metabolism / Differential Diagnosis / Clinical Sciences / Newborn Infant / Mitochondrial dysfunction / Mitochondrial Diseases / Pilot study / Oxidative phosphorylation / Alanine / Pilot Projects / Lactic Acid / Inborn errors of metabolism / Differential Diagnosis / Clinical Sciences / Newborn Infant / Mitochondrial dysfunction / Mitochondrial Diseases / Pilot study / Oxidative phosphorylation / Alanine / Pilot Projects / Lactic Acid

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DÓNDE SITUAR LA FIBROMIALGIA? Quisiera poner en su contexto actual el síndrome de la Fibromialgia

Mitochondrial Diseases

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Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging

Aging / Mitochondria / Mitochondrial DNA / Mice / Animals / Mitochondrial Diseases / Cardiac Arrhythmias / Oxygen / Biochemistry and cell biology / Mitochondrial Diseases / Cardiac Arrhythmias / Oxygen / Biochemistry and cell biology

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Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency

Mitochondria / Medicine / Mitochondrial DNA / Humans / Mutation / Microcephaly / Female / Male / Infant / Newborn Infant / Mitochondrial Diseases / New England / Guanosine Triphosphate / Oxidative phosphorylation / Deficiency / Liver Failure / Deficit / New England Journalof Medicine / Protein Biosynthesis / Mitochondrial Proteins / Microcephaly / Female / Male / Infant / Newborn Infant / Mitochondrial Diseases / New England / Guanosine Triphosphate / Oxidative phosphorylation / Deficiency / Liver Failure / Deficit / New England Journalof Medicine / Protein Biosynthesis / Mitochondrial Proteins

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Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

Endocrinology / Genetics / Functional Analysis / Cardiology / Hematology / Nephrology / Neurology / Oncology / Pediatrics / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Magnetic Resonance Imaging / Mitochondria / Public Health / Liver diseases / Brain / Allergy / Mitochondrial DNA / Humans / Sensorineural Hearing Loss / Mutation / Female / Infant / Pediatric / Respiratory Failure / Newborn Infant / Mitochondrial Diseases / Deficiency / Enzyme activity / Amino Acid Profile / Fetus / Liver Failure / Amino Acid Sequence / Base Sequence / Deficit / Laboratory Tests / Glutamic Acid / Translation initiation / Organic Acid / Molecular Sequence Data / DNA mutational analysis / Nephrology / Neurology / Oncology / Pediatrics / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Magnetic Resonance Imaging / Mitochondria / Public Health / Liver diseases / Brain / Allergy / Mitochondrial DNA / Humans / Sensorineural Hearing Loss / Mutation / Female / Infant / Pediatric / Respiratory Failure / Newborn Infant / Mitochondrial Diseases / Deficiency / Enzyme activity / Amino Acid Profile / Fetus / Liver Failure / Amino Acid Sequence / Base Sequence / Deficit / Laboratory Tests / Glutamic Acid / Translation initiation / Organic Acid / Molecular Sequence Data / DNA mutational analysis

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