Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report von Borisovna, Kondakova Olga, Yurievna, Krasnenko Anna, Yurievich, Tsukanov Kirill, Igorevna, Klimchuk Olesya, Olegovich, Korostin Dmitriy, Igorevna, Davidova Anna, Timofeevna, Batysheva Tatyana, Vyacheslavovna, Zhurkova Natalia, Ivanovna, Surkova Ekaterina, Alekseevich, Shatalov Peter, Vladimirovich, Ilinsky Valery

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

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A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report von Kozina, Anastasiya Aleksandrovna, Okuneva, Elena Grigorievna, Baryshnikova, Natalia Vladimirovna, Krasnenko, Anna Yurievna, Tsukanov, Kirill Yurievich, Klimchuk, Olesya Igorevna, Kondakova, Olga Borisovna, Larionova, Anna Nikolaevna, Batysheva, Tatyana Timofeevna, Surkova, Ekaterina Ivanovna, Shatalov, Peter Alekseevich, Ilinsky, Valery Vladimirovich

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Novel mutation in the gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report von Anastasiya Aleksandrovna Kozina, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Nikolay Alekseevich Plotnikov, Nadezhda Andreevna Pogodina, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky

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