Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Savina Tincheva"'
Autor:
Iliyana Pacheva, Velina Guergueltcheva, Ivailo Tournev, Mariana Gospodinova, Dora Zlatareva, Aleš Maver, Bilyana Georgieva, Vanyo Mitev, Albena Todorova, Teodora Chamova, Slavena Atemin, Lyubov Chochkova, Tihomir Todorov, Savina Tincheva, Borut Peterlin, Ani Taneva, Ivan Ivanov
Publikováno v:
Neuromuscular Disorders. 31:633-641
Pathogenic variants in MYH7 cause a wide range of cardiac and skeletal muscle diseases with childhood or adult onset. These include dilated and/or hypertrophic cardiomyopathy, left ventricular non-compaction cardiomyopathy, congenital myopathies with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c1cb37fa9d7d87993e88d684d143fe8
https://doi.org/10.1016/j.nmd.2021.04.004
https://doi.org/10.1016/j.nmd.2021.04.004
Autor:
Tanya Kadiyska, Ivan Tourtourikov, Kristiyan Dabchev, Dilyana Madzharova, Savina Tincheva, Demetrios Spandidos, Vassilis Zoumpourlis
Publikováno v:
Molecular medicine reports. 25(6)
Male infertility is a global problem affecting a considerable part of the male population. Current guidelines and practices aimed at diagnosing the cause of this problem still have low diagnostic yield. As novel candidate genes for infertility emerge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::077ad96c18b38b76d46221c9a994fced
https://pubmed.ncbi.nlm.nih.gov/35485285
https://pubmed.ncbi.nlm.nih.gov/35485285
Autor:
Alexey Savov, Vanyo Mitev, Vanya Sinigerska, Savina Tincheva, Tihomir Todorov, Angelina Mandadzhieva, Albena Todorova, Mariya Ivanova, Daniela Avdzhieva-Tzavella
Publikováno v:
American Journal of Molecular Biology. :1047-1053
Wolman disease is a rare autosomal recessive disorder caused by mutations in the LIPA gene (10q23.31). The LIPA gene encodes lysosomal acid lipase (LAL), which plays a key role in hydrolysis of the cholesteryl esters and triglycerides. Two unrelated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e9e0aa185bd5e10012d7f6cfb2aae013
https://doi.org/10.4236/ajmb.2017.74013
https://doi.org/10.4236/ajmb.2017.74013
Autor:
Ralica Georgieva, Tihomir Todorov, Ivan Litvinenko, Maria Bojidarova, Dimitar Stamatov, Genoveva Tacheva, Tanya Kadiyska, Bilyana Georgieva, Iglika Yordanova, Albena Todorova, Vanyo Mitev, Savina Tincheva
Publikováno v:
Neurological Sciences. 36:2209-2212
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by intractable seizures in neonates and infants. The seizures cannot be controlled with antiepileptic medications but respond both clinically and electrographica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e063688578580fd9368b44961df9a99
https://doi.org/10.1007/s10072-015-2338-3
https://doi.org/10.1007/s10072-015-2338-3
Autor:
Ivan Litvinenko, Radka Tincheva, Vanyo Mitev, Albena Todorova, D. Avdjieva, Savina Tincheva, Tihomir Todorov
Publikováno v:
Clinical Genetics. 85:286-289
The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene (STS) cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker mus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef5adcf6d211ce7f6d77c1427a8c24cb
https://doi.org/10.1111/cge.12148
https://doi.org/10.1111/cge.12148
Autor:
Bilyana Georgieva, Vanyo Mitev, Savina Tincheva, Albena Todorova, Slavena Tsaneva, Ivan Litvinenko, Alexey Savov, Tihomir Todorov
Publikováno v:
Neuromuscular disorders : NMD. 26(10)
Myotonia congenita type Becker is an autosomal recessive nondystrophic skeletal muscle disorder, caused by mutations in the CLCN1 gene. The disease is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contracti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::213a42938628286581e281e30568ff2f
https://pubmed.ncbi.nlm.nih.gov/27614575
https://pubmed.ncbi.nlm.nih.gov/27614575
Autor:
Nikolai Atanasov, Gabriela Atanasova, Margarita Kouzmanova, Savina Tincheva, Maria Gurmanova, Vasilij Goltsev
Publikováno v:
Agricultural Sciences
For some years now the interest in the effects of mobile phones electromagnetic fields (EMF) on plants has been increasing steadily. The results show that plants respond to these EMFs as to a stress factor. Chlorophyll fluorescence is a sensitive and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012d830c0c0a04ec739dad0fe53861f5
https://doi.org/10.22620/agrisci.2010.04.018
https://doi.org/10.22620/agrisci.2010.04.018
Publikováno v:
Scripta Scientifica Medica. 47:81
Here we report a single pedigree affected by two different recessive neuromuscular disorders, namely Friedreich ataxia (FRDA) and Limb-Girdle Muscular Dystrophy Type 2A. The molecular genetic testing showed that in this family FRDA is caused by an ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::daa180f8dbabe9400b3b2f872f8eea4d
https://doi.org/10.14748/ssm.v47i3.1275
https://doi.org/10.14748/ssm.v47i3.1275