Clinical aspects of mitochondrial disorders (original) (raw)

Clinicopathological findings in mitochondrial disorders

Harvey Sarnat

Journal of pediatric neurology, 2015

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Advancement in the diagnosis of mitochondrial diseases

Siti Aishah Sulaiman

Journal of Translational Genetics and Genomics

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Adult-onset mitochondrial myopathy

Enric Pedrol

Postgraduate Medical Journal, 1992

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Mitochondrial dynamics and disease, OPA1

Pascale Belenguer

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2006

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Mitochondrial Dysfunction and Cancer

Myeong-Eun Jegal

Journal of Life Science, 2019

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Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Anne-sophie Lebre

Journal of Medical Genetics, 2013

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Looking Back to the Future of Mitochondrial Research

Paolo Bernardi

Frontiers in Physiology

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Mitochondrial dysfunction in heart failure

Charles Hoppel

Heart Failure Reviews, 2013

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Targeting mitochondrial phenotypes for non-communicable diseases

Shuzhe Ding

Journal of Sport and Health Science, 2016

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Genomic Medicine and Endocrine Autoimmunity as Key to Mitochondrial Disease

Ian J Martins

Global Journal of Endocrinological Metabolism, 2018

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Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders

Corrado I Angelini

European Journal of Neurology, 2006

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Mitochondrial medicine arrives to prime time in clinical care: nutritional biochemistry and mitochondrial hyperpermeability ("leaky mitochondria") meet disease pathogenesis and clinical interventions

Alex Vasquez

Alternative therapies in health and medicine, 2014

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Zellweger syndrome and secondary mitochondrial myopathy

Rahul Phadke

European Journal of Pediatrics, 2014

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Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases

Jan-Willem Taanman

Journal of Bioenergetics and Biomembranes, 2008

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Mitochondrial respiratory abnormalities in patients with end-stage congenital heart disease

Jan Quaegebeur

Journal of Heart and Lung Transplantation, 2004

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Mitochondrial biogenesis in the metabolic syndrome and cardiovascular disease

Lakshmi Pulakat

Journal of Molecular Medicine, 2010

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Mitochondrial Dysfunction Increases Allergic Airway Inflammation

Istvan Boldogh

The Journal of Immunology, 2009

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Mitochondrial respiratory states and rates

J. Haendeler

2019

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Liver failure associated with mitochondrial DNA depletion

Jan-Willem Taanman

Journal of Hepatology, 1998

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Mitochondrial function in muscle from elderly athletes

Feisal Subhan

Annals of Neurology, 1997

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Mitochondrial dysfunction in a family with psychosis and chronic fatigue syndrome

Marc Catalan

Mitochondrion, 2017

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Mitochondrial HMG–CoA Synthase Deficiency

Juan Pié

Advances in the Study of Genetic Disorders, 2011

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Mitochondrial and Two Nuclear Gene Regions

Andrew Brower

2014

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Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background

Akira Ohtake

International Journal of Cardiology, 2019

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New aspects of impaired mitochondrial function in heart failure

Charles Hoppel

Journal of Bioenergetics and Biomembranes, 2009

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Potential applications of mitochondrial therapy with a focus on Parkinson's disease and mitochondrial transplantation

Himangi Vig

Advanced Pharmaceutical Bulletin, 2023

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Renal Mitochondrial Cytopathies

Carlo Dionisi Vici

International Journal of Nephrology, 2011

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Mitochondrial Dysfunction in Cardiac Disease: Ischemia–Reperfusion, Aging, and Heart Failure

Charles Hoppel

Journal of Molecular and Cellular Cardiology, 2001

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Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

Corrado Angelini

Neuromuscular Disorders, 2012

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Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency

Gepke Visser

JIMD Reports, 2012

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The study of central nervous system involvement in mithochondrial disorders with mitochondrial DNA mutation

Suely Marie

Arquivos de Neuro-Psiquiatria, 2002

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Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy

Mohammad Mofatteh

BMC Gastroenterology, 2020

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Analyzing mitochondrial function in human peripheral blood mononuclear cells

Charles Hoppel

Analytical Biochemistry

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The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Shanti Balasubramaniam

Genetics in Medicine, 2020

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Mitochondria: More than Mitochondrial DNA in Cancer

Bora Baysal

PLoS Medicine, 2006

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