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Neuropsychiatric Disease and Treatment Volume 13, 2017 - Issue

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Original Research

Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders

Josef Finsterer1 Municipal Hospital Rudolfstiftung, Vienna, AustriaCorrespondence[email protected]

Sinda Zarrouk-Mahjoub2 Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia

Pages 2569-2579 | Published online: 06 Oct 2017

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Cinzia Buccoliero, Manuela Dicarlo, Patrizia Pignataro, Francesco Gaccione, Silvia Colucci, Graziana Colaianni & Maria Grano. (2021) The Novel Role of PGC1α in Bone Metabolism. International Journal of Molecular Sciences 22:9, pages 4670.
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Natalie Witek, Jacob Hawkins & Deborah Hall. (2021) Genetic ataxias: update on classification and diagnostic approaches. Current Neurology and Neuroscience Reports 21:3.
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Kazushi Ichikawa. (2021) Reply to the letter: “Is the variant m.9176T>C in MT‐ATP6 truly responsibly for Leigh syndrome?” . Pediatrics International 63:2, pages 240-240.
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Josef Finsterer. (2021) Diagnosing Myoclonic Epilepsy With Ragged-Red Fibers Syndrome Requires Documentation of a Causative Mutation. A&A Practice 15:9, pages e01525.
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Ritwik Ghosh, Souvik Dubey, Subhankar Chatterjee, Josef Finsterer, Rakesh Biswas, Durjoy Lahiri & Biman Kanti Ray. (2020) Primary hypoparathyroidism and multiple neuraxial involvement in mitochondrial disorder due to the variant m.15043G>A in MT-CYB. Journal of the Neurological Sciences 414, pages 116853.
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Josef Finsterer. (2020) Variant m.1555A>G in MT-RNR1 causes hearing loss and multiorgan mitochondrial disorder. Medicine 99:6, pages e18488.
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J. Finsterer. (2019) MELAS Missed for Years: Stroke-Like Lesions Are No Indication for Brain Biopsy. Case Reports in Neurological Medicine 2019, pages 1-4.
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Josef Finsterer. (2019) Re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre. BJOG: An International Journal of Obstetrics & Gynaecology 126:11, pages 1400-1401.
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Josef Finsterer. (2019) Liability of sepsis is hardly determined by the COXI variant m.6459T>C . Journal of Cellular and Molecular Medicine 23:1, pages 689-690.
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Josef Finsterer. (2018) Features on cerebral imaging suggesting mitochondrial disorder. Neurodegenerative Disease Management 8:4, pages 215-216.
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Josef Finsterer. (2018) Aortic root ectasia as a phenotypic feature of a mitochondrial disorder. Clinical Case Reports 6:8, pages 1501-1503.
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Josef Finsterer & Sinda Zarrouk-Mahjoub. (2018) Polymegathism as a biomarker of mitochondrial disorders. Graefe's Archive for Clinical and Experimental Ophthalmology 256:6, pages 1211-1212.
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Josef Finsterer & Sinda Zarrouk-Mahjoub. (2018) Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants. Neuromuscular Disorders 28:4, pages 373-374.
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Josef Finsterer & Sinda Zarrouk-Mahjoub. (2018) Biomarkers for Detecting Mitochondrial Disorders. Journal of Clinical Medicine 7:2, pages 16.
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Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders

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Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders

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