Bolognini, Ramona

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Journal Article

Gschwind, Markus; Garcia Segarra, Nuria; Schaller, André; Bolognini, Ramona; Nuoffer, Jean-Marc; Hourez, Raphael; Deprez, Manuel; Lhermitte, Benoit; Maeder, Philippe; Tran, Christel; Kuntzer, Thierry (2022). Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient. Annals of Clinical and Translational Neurology, 9(6), pp. 888-892. Wiley 10.1002/acn3.51556

Jackson, Christopher; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human molecular genetics, 28(4), pp. 639-649. Oxford University Press 10.1093/hmg/ddy374

Bolognini, Ramona; Gerth-Kahlert, Christina; Abegg, Mathias; Bartholdi, Deborah; Mathis, Nicolas; Sturm, Veit; Gallati, Sabina; Schaller, André (2017). Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing. BMC medical genetics, 18(1), p. 22. BioMed Central 10.1186/s12881-017-0383-x

Haack, Tobias B; Jackson, Christopher; Murayama, Kei; Kremer, Laura S; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Seila; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; ... (2015). Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of Clinical and Translational Neurology, 2(5), pp. 492-509. Wiley 10.1002/acn3.189

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