Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report

por Kozina, Anastasiya Aleksandrovna, Baryshnikova, Natalia Vladimirovna, Ilinskaya, Anna Yurievna, Kim, Anna Alexandrovna, Plotnikov, Nikolay Alekseevich, Pogodina, Nadezhda Andreevna, Surkova, Ekaterina Ivanovna, Shatalov, Peter Alekseevich, Ilinsky, Valery Vladimirovich
Publicado 2022

Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

por Kozina, Anastasiya Aleksandrovna, Okuneva, Elena Grigorievna, Baryshnikova, Natalia Vladimirovna, Fedonyuk, Inessa Dmitrievna, Kholin, Alexey Aleksandrovich, Il’ina, Elena Stepanovna, Krasnenko, Anna Yurievna, Stetsenko, Ivan Fedorovich, Plotnikov, Nikolay Alekseevich, Klimchuk, Olesia Igorevna, Surkova, Ekaterina Ivanovna, Ilinsky, Valery Vladimirovich
Publicado 2020