Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Neli Bizjak"'
Autor:
Katja Peganc Nunčič, David Neubauer, Jasna Oražem Mrak, Mirjana Perković Benedik, Urška Mahne, Neli Bizjak, Zvonka Rener Primec, Nataša Šuštar, Tita Butenko, Eva Vrščaj, Damjan Osredkar
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Background and objectivesIn children requiring electroencephalography (EEG), sleep recording can provide crucial information. As EEG recordings during spontaneous sleep are not always possible, pharmacological sleep-inducing agents are sometimes requ
Externí odkaz:
https://doaj.org/article/b1839e1d7a0241c9943a1093fc92e2d1
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Pediatric onset multiple sclerosis (POMS) in the very young is a very rare entity and presents a difficult diagnostic challenge due to overlapping signs and symptoms with other diseases. We present a 4-year-old boy who initially presented with right-
Externí odkaz:
https://doaj.org/article/4531950745e3492c9eec170c4e48c326
Autor:
Samo Gregorčič, Jaka Hrovat, Neli Bizjak, Zvonka Rener Primec, Tadeja Hostnik, Blaž Stres, Mirjana Perković Benedik, Damjan Osredkar
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
ObjectivesThe aim of this study was to analyse the characteristics of typical absence seizures (AS), myoclonic AS and AS with eyelid myoclonia in children and to find associations between these characteristics and difficult to treat absence seizures
Externí odkaz:
https://doaj.org/article/be0914188f324c32956d8ad220ef030f
Autor:
Neli Bizjak, Mojca Zerjav Tansek, Magdalena Avbelj Stefanija, Barbka Repic Lampret, Ajda Mezek, Ana Drole Torkar, Tadej Battelino, Urh Groselj
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100691- (2020)
3-methylglutaconic aciduria type 1 (3-MGA-I) (MIM ID #250950) is an ultra-rare, autosomal recessive organic aciduria, resulting from mutated AUH gene, leading to the deficient 3-methylglutaconyl-CoA hydratase (3-MGH). Only around 40 cases are previou
Externí odkaz:
https://doaj.org/article/5bda639214e8416889991c2ddf301f47
Publikováno v:
Medical science monitor : international medical journal of experimental and clinical research. 28
BACKGROUND Arteriovenous malformation (AVM) of the central nervous system (CNS) is a developmental condition that consists of a focal mass of interconnected veins and arteries. This retrospective study was conducted at the only tertiary center in Slo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8db78e8709c109263761d9a468775f6
https://pubmed.ncbi.nlm.nih.gov/35249097
https://pubmed.ncbi.nlm.nih.gov/35249097
Autor:
Tadej Battelino, Magdalena Avbelj Stefanija, Ajda Mezek, Urh Groselj, Ana Drole Torkar, Neli Bizjak, Mojca Zerjav Tansek, Barbka Repic Lampret
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100691-(2020)
Molecular Genetics and Metabolism Reports
Molecular genetics and metabolism reports, vol. 25, 100691, 2020.
Molecular Genetics and Metabolism Reports
Molecular genetics and metabolism reports, vol. 25, 100691, 2020.
3-methylglutaconic aciduria type 1 (3-MGA-I) (MIM ID #250950) is an ultra-rare, autosomal recessive organic aciduria, resulting from mutated AUH gene, leading to the deficient 3-methylglutaconyl-CoA hydratase (3-MGH). Only around 40 cases are previou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eabd373c4a138fac7c1efc0120e62799
http://www.sciencedirect.com/science/article/pii/S2214426920301373
http://www.sciencedirect.com/science/article/pii/S2214426920301373
Publikováno v:
Epilepsybehavior : EB. 112
The aim of this study was to evaluate the perceived health of children with epilepsy as experienced by the respondents to a questionnaire, to assess the sense of control over their child's epilepsy, and how much support they feel they received in var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55af37757e423e417ae1ec1f283371ee
https://pubmed.ncbi.nlm.nih.gov/32971386
https://pubmed.ncbi.nlm.nih.gov/32971386
Publikováno v:
Multiple Sclerosis and Related Disorders. 18:56-59
Background Although multiple sclerosis usually affects young adults, paediatric-onset multiple sclerosis (pMS) is increasingly recognized in the past ten years. The aim of the present study was to evaluate the incidence of pMS in Slovenia and to char
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65f6434ac4169652619a814fe36dea43
https://doi.org/10.1016/j.msard.2017.09.017
https://doi.org/10.1016/j.msard.2017.09.017
Publikováno v:
European Journal of Paediatric Neurology. 21:e8-e9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae4b2648d91006cb9d00dceae9f7d425
https://doi.org/10.1016/j.ejpn.2017.04.1337
https://doi.org/10.1016/j.ejpn.2017.04.1337
Publikováno v:
European Journal of Paediatric Neurology. 19:S63
Objective We report a 14 years old boy and a 17 years old girl with tonic spasms (TS) as first manifestation of multiple sclerosis (MS). This is the first report in which TS occured as first manifestations of demyelinating disease in pediatric popula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::224052413bdcb07dae69a5f6af3c38a7
https://doi.org/10.1016/s1090-3798(15)30209-9
https://doi.org/10.1016/s1090-3798(15)30209-9