Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)

by Minna E. Similä, Mari Auranen, Päivi Liisa Piirilä
Published 2020-02-01

Modified Atkins diet modifies cardiopulmonary exercise characteristics and promotes hyperventilation in healthy subjects

by Nadja Ratia, Kirsi H. Pietiläinen, Mari Auranen, Lauri Saksa, Ritva Luukkonen, Anu Suomalainen, Päivi Piirilä
Published 2021-06-01

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

by Julius Rönkkö, Svetlana Molchanova, Anya Revah‐Politi, Elaine M. Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck, Stéphanie Humblet‐Baron, Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B. Harms, Henna Tyynismaa, Emil Ylikallio
Published 2020-10-01

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

by Emmanuelle C. Genin, Sylvie Bannwarth, Françoise Lespinasse, Bernardo Ortega-Vila, Konstantina Fragaki, Kie Itoh, Elodie Villa, Sandra Lacas-Gervais, Manu Jokela, Mari Auranen, Emil Ylikallio, Alessandra Mauri-Crouzet, Henna Tyynismaa, Anna Vihola, Gaelle Augé, Charlotte Cochaud, Hiromi Sesaki, Jean-Ehrland Ricci, Bjarne Udd, Cristofol Vives-Bauza, Véronique Paquis-Flucklinger
Published 2018-11-01