Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Inna V. Sharkova"'
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 15, Iss 3, Pp 85-91 (2021)
Introduction. Limb-girdle muscular dystrophy (LGMD) includes more than 30 forms caused by mutations in genes located on autosomes. The most common form is calpain-3-related LGMD, with autosomal recessive inheritance pattern (OMIM 253600). An autosoma
Externí odkaz:
https://doaj.org/article/eac3f5daff8643a3b8e7de4daae883e1
Autor:
Galina E. Rudenskaya, Varvara A. Kadnikova, Oksana P. Ryzhkova, Nina A. Dyomina, Inna V. Sharkova, Alexander V. Polyakov
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 15, Iss 2, Pp 13-20 (2021)
Introduction. Since 2017, the Research Centre for Medical Genetics has been conducting the first clinical and molecular study in Russia of a heterogeneous spastic paraplegia group based on the MPS high throughput sequencing method. Our group of molec
Externí odkaz:
https://doaj.org/article/a61d816dee3049b39be805c39aa7b9f7
Publikováno v:
Annals of Clinical and Experimental Neurology. 15:85-91
Introduction. Limb-girdle muscular dystrophy (LGMD) includes more than 30 forms caused by mutations in genes located on autosomes. The most common form is calpain-3-related LGMD, with autosomal recessive inheritance pattern (OMIM 253600). An autosoma
Autor:
A. A. Sharkov, Tatiana D. Krylova, G. E. Rudenskaya, Ilya V. Kanivets, Sergey Korostelev, Inna V. Sharkova, Ekaterina Zakharova, Peter Sparber, V. V. Kadyshev, Ekaterina Pomerantseva, Nina Demina, Mikhail Skoblov, Svetlana V. Mikhailova, Vladimir Kaimonov, Svetlana A. Repina
Publikováno v:
Parkinsonismrelated disorders. 84
Introduction Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurological syndrome caused by pathogenic variants in the C19orf12 and is characterized by iron deposition in the basal ganglia and substantia nigra. Only a li
Autor:
Nikolay V. Zernov, Mikhail Skoblov, Elena L. Dadali, Vyacheslav Tabakov, Andrey V. Marakhonov, Inna V. Sharkova
Publikováno v:
Gene. 672:165-171
Here we present a case report of collagen VI related myopathy in a patient, 8 y.o. boy, with intermediate phenotype between severe Ullrich congenital muscular dystrophy and milder Bethlem myopathy. Whole exome sequencing revealed two novel single nuc
Publikováno v:
Neurogenetics. 19(4)
Neurodegeneration with brain iron accumulation type 4 (NBIA4) also known as MPAN (mitochondria protein-associated neurodegeneration) is a rare neurological disorder which main feature is brain iron accumulation most frequently in the globus pallidus
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 117(11)
To describe clinical and genetic characteristics of patients from the Russian population with a variety of phenotypic variants of facioscapulohumeral muscular dystrophy Landuzi-Dezherina type 1 (FSHD 1).The material for the study were blood samples o
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 116(9. Vyp. 2)
Epileptic encephalopathies (EE) are the group of progressive conditions with various etiologies that can produce neurocognitive deficit both per se and due to constant epileptiform discharges. Epileptic encephalopathies constitute about 15% of epilep