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Metabolic Brain Disease

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01-02-2018 | Commentary

The cerebellum is a common site of affection in Leigh syndrome

Authors: Josef Finsterer, Sinda Zarrouk-Mahjoub

Published in: Metabolic Brain Disease | Issue 1/2018

Excerpt

Letter to the Editor. …

Kılıç M, Oğuz KK, Kılıç E, Yüksel D, Demirci H, Sağıroğlu MŞ, Yücel-Yılmaz D, Özgül RK (2017) A patient with mitochondrial disorder due to a novel mutation in MRPS22. Metab Brain Dis. https://doi.org/10.1007/s11011-017-0074-5

Picciotti PM, Carfì A, Anzivino R, Paludetti G, Conti G, Brandi V, Bernabei R, Onder G (2017) Audiologic Assessment in Adults With Down Syndrome. Am J Intellect Dev Disabil 122:333–341CrossRefPubMed

Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stüve B, Waltz S, Hattingen E, Thiele H, Nürnberg P, Rüb C, Voos W, Kopatz J, Neumann H, Kunz WS (2016) Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. Brain 139:338–345CrossRefPubMed

Tarnopolsky M, Meaney B, Robinson B, Sheldon K, Boles RG (2013) Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C. Am J Med Genet A 161A:2020–2023CrossRefPubMed

Jurkiewicz E, Chełstowska S, Pakuła-Kościesza I, Malczyk K, Nowak K, Bekiesińska-Figatowska M, Sykut-Cegielska J, Piekutowska-Abramczuk D, Pronicka E (2011) Proton MR Spectroscopy in Patients with Leigh Syndrome. Neuroradiol J 24:424–428CrossRefPubMed

Title: The cerebellum is a common site of affection in Leigh syndrome
Authors: Josef Finsterer
Sinda Zarrouk-Mahjoub
Publication date: 01-02-2018
Publisher: Springer US
Published in: Metabolic Brain Disease / Issue 1/2018
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-017-0115-0

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

The cerebellum is a common site of affection in Leigh syndrome

Excerpt

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Excerpt

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