The Double Mutation <i>DSG2</i>-p.S363X and <i>TBX20</i>-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report

by Roman Myasnikov, Andreas Brodehl, Alexey Meshkov, Olga Kulikova, Anna Kiseleva, Greta Marie Pohl, Evgeniia Sotnikova, Mikhail Divashuk, Marina Klimushina, Anastasia Zharikova, Maria Pokrovskaya, Sergey Koretskiy, Maria Kharlap, Elena Mershina, Valentin Sinitsyn, Elena Basargina, Leila Gandaeva, Vladimir Barskiy, Sergey Boytsov, Hendrik Milting, Oxana Drapkina
Published 2021-06-01

Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset

by Andreas Brodehl, Alexey Meshkov, Roman Myasnikov, Anna Kiseleva, Olga Kulikova, Bärbel Klauke, Evgeniia Sotnikova, Caroline Stanasiuk, Mikhail Divashuk, Greta Marie Pohl, Maria Kudryavtseva, Karin Klingel, Brenda Gerull, Anastasia Zharikova, Jan Gummert, Sergey Koretskiy, Stephan Schubert, Elena Mershina, Anna Gärtner, Polina Pilus, Kai Thorsten Laser, Valentin Sinitsyn, Sergey Boytsov, Oxana Drapkina, Hendrik Milting
Published 2021-04-01

The <i>LDLR</i>, <i>APOB</i>, and <i>PCSK9</i> Variants of Index Patients with Familial Hypercholesterolemia in Russia

by Alexey Meshkov, Alexandra Ershova, Anna Kiseleva, Evgenia Zotova, Evgeniia Sotnikova, Anna Petukhova, Anastasia Zharikova, Pavel Malyshev, Tatyana Rozhkova, Anastasia Blokhina, Alena Limonova, Vasily Ramensky, Mikhail Divashuk, Zukhra Khasanova, Anna Bukaeva, Olga Kurilova, Olga Skirko, Maria Pokrovskaya, Valeriya Mikova, Ekaterina Snigir, Alexsandra Akinshina, Sergey Mitrofanov, Daria Kashtanova, Valentin Makarov, Valeriy Kukharchuk, Sergey Boytsov, Sergey Yudin, Oxana Drapkina
Published 2021-01-01