Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Tanja, Golli"'
Autor:
Nika Eržen, Bojan Korpar, Minca Mramor, Saba Battelino, Špela Markelj, Tanja Golli, Staša Stropnik, Štefan Grosek, Miroslav Petrovec, Darja Paro Panjan, Gregor Nosan
Publikováno v:
Zdravniški Vestnik, Vol 93, Iss 5-6, Pp 187-197 (2024)
Prirojena okužba s citomegalovirusom (pCMV) je v razvitih državah najpogostejša prirojena okužba ter najpogostejši vzrok za senzorinevralno okvaro sluha in razvojnonevrološke motnje. Le manjši delež otrok s pCMV ima ob rojstvu izražene znake
Externí odkaz:
https://doaj.org/article/26dbe96b00de414382dc214d8fb9d100
Publikováno v:
Zdravniški Vestnik, Vol 93, Iss 3-4, Pp 135-145 (2024)
Spinalna mišična atrofija (SMA) je redka genetska bolezen, ki prizadene motorične nevrone, zaradi česar propadajo mišice ter se slabša splošno stanje bolnika. Do nedavnega vzročnega zdravljenja za SMA ni bilo, zato so bili bolniki popolnoma o
Externí odkaz:
https://doaj.org/article/5dd65c4cfd414e54bbbc621a9f6073af
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background This paper details the results of an evaluation of the level of consensus amongst clinicians on the use of ataluren in both ambulatory and non-ambulatory patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). The con
Externí odkaz:
https://doaj.org/article/3a10ab94526849ee89ac36a52a8b4944
Autor:
Tita Butenko, Tanja Loboda, Damjan Osredkar, Aleksandra Zver, Uroš Krivec, Primož Kotnik, Matjaž Homan, Mirko Topalović, Marko Pokorn, Katja Groleger Sršen, Petra Lešnik Musek, David Gosar, Alenka Piskar, Tanja Golli
Publikováno v:
Zdravniški Vestnik, Vol 90, Iss 9-10, Pp 533-549 (2021)
Duchennova mišična distrofija (DMD) je najpogostejša in ena najresnejših mišičnih bolezni otroške dobe. Gre za na kromosom X vezano recesivno živčno-mišično bolezen, ki jo povzroča mutacija v genu za distrofin. Primarno prizadene skeletne
Externí odkaz:
https://doaj.org/article/9da64ec225034c41bec14ba5407131b5
Publikováno v:
Zdravniški Vestnik, Vol 89, Iss 5-6, Pp 320-326 (2020)
We report the case of a girl with spinal muscular atrophy (SMA) type 1, who is the first patient with SMA in Slovenia treated with nusinersen, the first disease modifying therapy available for these patients. SMA is an autosomal recessive neuromuscul
Externí odkaz:
https://doaj.org/article/8d8a28e99ddd483f9a1333704ca0e117
Autor:
Dana Craiu, Zvonka Rener Primec, Lieven Lagae, Federico Vigevano, Eugen Trinka, Nicola Specchio, Sophia Bakhtadze, Cristina Cazacu, Tanja Golli, Sameer M. Zuberi
Publikováno v:
European Journal of Paediatric Neurology. 36:57-68
The evidence relating vaccination to febrile seizures and epilepsy is evaluated with an emphasis on febrile seizures (FS), Dravet syndrome (DS), West syndrome, and other developmental and epileptic encephalopathies.A systematic literature review usin
Publikováno v:
European Journal of Paediatric Neurology. 35:158-164
Background Modulating the immune response has proven to be beneficial in different neurologic diseases, even in those not perceived thus far to be autoimmune. Methods Extensive literature search has been done for available data on vaccine safety, eff
Autor:
Tanja Golli, Tita Butenko, Damjan Osredkar, Tanja Loboda, Primož Kotnik, Aleksandra Zver, Alenka Piskar, Petra Lešnik Musek, David Gosar, Uros Krivec, Marko Pokorn, Katja Groleger Sršen, Mirko Topalović, Matjaž Homan
Publikováno v:
Zdravniški Vestnik, Vol 90, Iss 9-10, Pp 533-549 (2021)
Duchennova mišična distrofija (DMD) je najpogostejša in ena najresnejših mišičnih bolezni otroške dobe. Gre za na kromosom X vezano recesivno živčno-mišično bolezen, ki jo povzroča mutacija v genu za distrofin. Primarno prizadene skeletne
Autor:
Lejla Košmrlj, Tanja Loboda, Tamara Meško, Tanja Golli, Tita Butenko, Damjan Osredkar, David Gosar, Petra Lešnik Musek, Vesna Krkoč, Staša Stropnik
Publikováno v:
European Journal of Paediatric Neurology. 30:134-143
Background Adaptive skills represent the ways that children and adolescents meet their basic needs for self-care, decision making, communication, and learning in their daily life. Having a neuromuscular disease (NMD) not only presents mental health i
Autor:
Maša, Bizjak, Nina, Emeršič, Mojca, Zajc Avramovič, Fabio, Barbone, Federico, Ronchese, Sara, Della Paolera, Ester, Conversano, Stefano, Amoroso, Michael, Vidoni, Tina, Vesel Tajnšek, Gorazd, Mlakar, Vojko, Berce, Gašper, Markelj, Tina, Plankar Srovin, Tanja, Golli, Damjan, Osredkar, Anja, Koren Jeverica, Nataša, Toplak, Marko, Pokorn, Tatjana, Avšič Županc, Alojz, Ihan, Mario, Fafangel, Andrea, Taddio, Tadej, Avčin
Publikováno v:
Clinical and Experimental Rheumatology.
To estimate the incidence and describe the spectrum of inflammatory and autoimmune diseases linked to SARS-CoV-2 infection and COVID-19 vaccination in children from two neighbouring south central European countries.We performed a multi-centre prospec