Zobrazeno 1 - 10
of 59
pro vyhledávání: '"F A, Konovalov"'
Autor:
T. V. Markova, A. O. Borovikov, E. R. Lozier, A. A. Isaev, V. S. Kaimonov, E. A. Pomerantseva, F. A. Konovalov, O. A. Schagina, E. L. Dadali
Publikováno v:
Нервно-мышечные болезни, Vol 10, Iss 1, Pp 88-92 (2020)
Early epileptic encephalopathy-66 was first diagnosed in a male patient from Russia using whole-exome sequencing. Early epileptic encephalopathy- 66 is a unique disorder in the group of early epileptic encephalopathies. The same recurrent heterozygou
Externí odkaz:
https://doaj.org/article/067d3879698e4e9286daa9040edeb061
Autor:
M. E. Ivanova, I. V. Zolnikova, I. E. Khatsenko, V. V. Strelnikov, F. A. Konovalov, E. R. Lozier, M. A. Ampleeva, A. V. Antonets, I. V. Kanivets, K. V. Gorgisheli, D. S. Atarshchikov, D. V. Pyankov, S. A. Korostelev, E. B. Kuznetsova, D. Bar, L. M. Balashova, Zh. M. Salmasi
Publikováno v:
Российский офтальмологический журнал, Vol 13, Iss 1, Pp 12-22 (2020)
Achromatopsia (ACHM) is a rare autosomal recessive disease. Its mutation spectrum is well described in other populations, but the data on ACHM prevalence and features in Russia are insufficient. Purpose. To describe clinically and genetically the Rus
Externí odkaz:
https://doaj.org/article/92260456696c478c91e15c42a02ce1d3
Autor:
E. L. Dadali, I. A. Akimova, F. A. Konovalov, P. A. Shatalov, A. Yu. Krasnenko, V. V. Strelnikov, M. A. Ampleeva
Publikováno v:
Русский журнал детской неврологии, Vol 14, Iss 3, Pp 28-36 (2020)
Early infantile epileptic encephalopathies (EIEE) are a group of disorders characterized by pharmacoresistant epileptic seizures manifesting in infancy and leading to psychomotor retardation. The most common genetic variant with X-linked dominant inh
Externí odkaz:
https://doaj.org/article/7d166f3ebe3242d7ac29da480525e283
Publikováno v:
Нервно-мышечные болезни, Vol 8, Iss 3, Pp 28-33 (2018)
To date, a large number of monogenic diseases and syndromes, in the clinical picture of which there are convulsions, a psycho-speech development delay and dysmorphic features have been described. One of the hereditary syndromes with a specific phenot
Externí odkaz:
https://doaj.org/article/27d0a3ed3d884dbebf686fa654c42c8f
Publikováno v:
Нервно-мышечные болезни, Vol 8, Iss 2, Pp 59-67 (2018)
Background. Spinal muscle atrophies (SMA) are a group of diverse heterogenous diseases caused by mutations in several dozens of genes. A rare form of autosomal dominant SMA predominantly affects muscles of the lower extremities.The study objective is
Externí odkaz:
https://doaj.org/article/3cc2ac3d30264714aa16b849134501c6
Autor:
E. L. Dadali, F. A. Konovalov, I. A. Akimova, A. A. Sharkov, G. E. Rudenskaya, S. V. Mikhaylova, S. A. Korostelev
Publikováno v:
Нервно-мышечные болезни, Vol 8, Iss 2, Pp 42-52 (2018)
Background. A large number of single gene disorders with seizures in clinical picture has been described. Among them, a special place is held by early-onset epileptic encephalopathies (EEE) – a genetically diverse group of disorders characterized b
Externí odkaz:
https://doaj.org/article/487b6c1732b74dbb99f5b14660251b6b
Autor:
E. L. Dadali, S. S. Nikitin, S. A. Kurbatov, A. F. Murtazina, I. V. Sharkova, O. A. Shchagina, F. A. Konovalov
Publikováno v:
Нервно-мышечные болезни, Vol 7, Iss 3, Pp 47-55 (2017)
Introduction. Hereditary motor and sensory neuropathies are genetically heterogeneous group of disorders characterized by a progressive muscle weakness, atrophy of hand and leg muscles often associated with deformations, and mild to moderate sensory
Externí odkaz:
https://doaj.org/article/b27ffc0c525e43ec8645e495ae9e4dda
Publikováno v:
Русский журнал детской неврологии, Vol 11, Iss 2, Pp 33-41 (2016)
The authors provide a review of the clinical and genetic characteristics of hereditary diseases and syndromes accompanied by febrile convulsions, which is illustrated by examples of their own observations. The paper sets forth the possibilities and l
Externí odkaz:
https://doaj.org/article/0bc8a05143dd4211baa8d5a20ac0e9a5
Publikováno v:
Нервно-мышечные болезни, Vol 6, Iss 2, Pp 52-57 (2016)
Hereditary motor and sensory neuropathy (HMSN, Charcot–Marie–Tooth disease) is a group of genetically heterogeneous disorders with more than 80 genes linked to different phenotypes, including IGHMBP2 gene responsible for HMSN type 2S (OMIM 616155
Externí odkaz:
https://doaj.org/article/db2ac48f7a8e477798861dafdd916429
Autor:
E. L. Dadali, A. Kh.-M. Маkаоv, V. A. Galkina, F. A. Konovalov, A. V. Polyakov, M. V. Bulakh, R. A. Zinchеnkо
Publikováno v:
Нервно-мышечные болезни, Vol 6, Iss 2, Pp 47-51 (2016)
The clinical and genetic features of hereditary motor and sensory neuropathy (HMSN; Charcot–Marie–Tooth disease, CMT) caused by newly identified missense mutation s.65G>T (p.Pro22His) in NEFL gene located on the chromosome 8р21.2 are described.
Externí odkaz:
https://doaj.org/article/e87714b0c80d4221bf40697cf2a8baa0