[Diagnostic algorithm for autosomal recessive ataxia]

Autor: N.Y. Abramycheva, A.S. Vetchinova, S. A. Klyushnikov, E. P. Nuzhnyi, Sergey N. Illarioshkin, M. V. Ershova, Yu. A. Seliverstov, Pogoda Tv, Ekaterina Yu. Fedotova

Publikováno v: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 119(9)

To develop a complex algorithm for autosomal recessive ataxia (ARA) diagnosis applicable for Russian patients with degenerative ataxias.48 patients with of presumably degenerative ataxias were examined. Clinical evaluation was performed with the use

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09f0a7aec04b965757949e1ff44d605b
https://pubmed.ncbi.nlm.nih.gov/31626222

[Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes].

Autor: Makretskaya NA; Endocrinology Research Centre., Gerasimova MV; Center of Modern Pediatrics., Vasilyev EV; Endocrinology Research Centre., Zubkova NA; Endocrinology Research Centre., Kalinchenko NY; Endocrinology Research Centre., Kolodkina AA; Endocrinology Research Centre., Petrov VM; Endocrinology Research Centre., Pogoda TV; Endocrinology Research Centre., Panova AV; Endocrinology Research Centre., Frolova EB; National Medical Research Center for Children's., Poliakov AV; Research Centre for Medical Genetics., Tiulpakov AN; Research Centre for Medical Genetics.

Publikováno v: Problemy endokrinologii [Probl Endokrinol (Mosk)] 2021 May 01; Vol. 67 (3), pp. 62-67. Date of Electronic Publication: 2021 May 01.

[Diagnostic algorithm for autosomal recessive ataxia].

Autor: Nuzhnyi EP; Research Center of Neurology, Moscow, Russia., Abramycheva NY; Research Center of Neurology, Moscow, Russia., Klyushnikov SA; Research Center of Neurology, Moscow, Russia., Seliverstov YA; Research Center of Neurology, Moscow, Russia., Vetchinova AS; Research Center of Neurology, Moscow, Russia., Pogoda TV; Research Center of Neurology, Moscow, Russia., Ershova MV; Research Center of Neurology, Moscow, Russia., Fedotova EY; Research Center of Neurology, Moscow, Russia., Illarioshkin SN; Research Center of Neurology, Moscow, Russia.

Publikováno v: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2019; Vol. 119 (9), pp. 74-82.

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[Influence of genetic mutations on clinical presentation of subretinal neovascularization. Report 2: The impact of HTRA and VEGF genes polymorphism].

Autor: Budzinskaia MV, Pogoda TV, Strelkova ID, Chikun EA, Shchegoleva IV, Kazarian ÉÉ, Galoian NS

Publikováno v: Vestnik oftalmologii [Vestn Oftalmol] 2011 Jul-Aug; Vol. 127 (4), pp. 9-16.