Orphanet Journal of Rare Diseases

Authors Schröder S, Yigit G, Li Y, Altmüller J, Büttel HM, Fiedler B, Kretzschmar C, Nürnberg P, Seeger J, Serpieri V, Valente EM, Wollnik B, Boltshauser E, Brockmann K Journal Orphanet Journal of Rare Diseases Citation Orphanet J Rare Dis. 2023 May 2;18(1):101. Abstract Background: The term congenital ocular motor

Authors Reinert MC, Pacheu-Grau D, Catarino CB, Klopstock T, Ohlenbusch A, Schittkowski M, Wilichowski E, Rehling P, Brockmann K Journal Orphanet Journal of Rare Diseases Citation Orphanet J Rare Dis. 2021 Feb 4;16(1):64. Abstract Background: Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder and characterized by acute