Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Anastasiya A. Lyalina"'
Autor:
Lyudmila M. Kuzenkova, Anastasiya A. Lyalina, Olga I. Zyryanova, Mariya A. Yarosh, Ilya V. Kanivets, Kirill V. Savostyanov
Publikováno v:
L.O. Badalyan Neurological Journal. 3:178-184
Nervous Developmental Disorder with Involuntary Movements (NEDIM) (OMIM 617493) is a rare movement disorder in children on the spectrum of GNAO1-associated movement disorders. With NEDIM, movement disorders appear in early childhood, progress and lea
Autor:
Tatyana V. Podkletnova, Lyudmila M. Kuzenkova, Alexey L. Kurenkov, Evgeniya V. Uvakina, Sofya G. Popovich, Anastasiya A. Lyalina
Publikováno v:
L.O. Badalyan Neurological Journal. 3:96-100
Duchenne muscular dystrophy (DMD) is a hereditary progressive muscular dystrophy with an X-linked recessive type of inheritance, mainly manifested in boys, characterized by an onset at an early age, rapidly progressive atrophy of the striated muscles
Autor:
Tatyana V. Podkletnova, Olga B. Kondakova, Eugeniya V. Uvakina, Dariya A. Fisenko, Anastasiya A. Lyalina, Sophiya G. Popovich, Lyudmila M. Kuzenkova, Aleksey L. Kurenkov, Lale A. Pak, Bella I. Bursagova
Publikováno v:
L.O. Badalyan Neurological Journal. 2:227-232
Duchenne muscular dystrophy (DMD) is a hereditary progressive muscular dystrophy, mainly manifested in boys, is characterized by the onset at an early age, gradual symmetrical atrophy of the striated musculature of the limbs, trunk, as well as damage
Autor:
Aleksey A. Pushkov, Alexey Kurenkov, Tatyana Podkletnova, Olga B. Kondakova, Lale A. Pak, Iulia I. Davydova, Dmitry I. Grebenkin, Kirill Savostyanov, L. M. Kuzenkova, Anastasiya A. Lyalina, Bella Bursagova
Publikováno v:
L.O. Badalyan Neurological Journal. 2:159-166
Duchenne muscular dystrophy (DMD) is a disease with an X-linked recessive type of inheritance, belonging to a group of disorders with primary muscle damage, caused by pathogenic variants in the DMD gene and associated with dysfunction of the dystroph
Autor:
Anastasiya A. Lyalina, Olga B. Kondakova, Evgeniya V. Krustaleva, Ilya V. Kanivets, Tatiana T. Batysheva, Dmitry I. Grebenkin
Publikováno v:
L.O. Badalyan Neurological Journal. 1:29-34
Background. PittHopkins syndrome (PHS) is the rare inherited disease, caused by a microdeletion on chromosome 18q21 or heterozygous mutation TCF4 gene and characterized by severe mental retardation, abnormal breathing patterns: hyperventilation, apne