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Autor:
Katarina Vogelnik, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj, Tabish A. Saifee, Janez Zidar, Maja Kojović
Publikováno v:
Journal of Neurology. 269:4498-4509
In the sharp contrast with the existing literature, we frequently observe minipolymyoclonus, tremor and pseudodystonic thumb posturing in patients with motor neuron disease. We conducted a clinical and electrophysiological study to describe phenomeno
Publikováno v:
Parkinsonism & Related Disorders. 96:91-97
Generation of functional tremor relies on the structures involved in the control of voluntary movements. The clinical diagnosis is based on the presence of "positive signs", which are expression of cognitive and motor distractibility and reflect func
Autor:
Maja Potrč, Marija Volk, Matteo de Rosa, Jože Pižem, Nataša Teran, Helena Jaklič, Aleš Maver, Brigita Drnovšek-Olup, Michela Bollati, Katarina Vogelnik, Alojzija Hočevar, Ana Gornik, Vladimir Pfeifer, Borut Peterlin, Marko Hawlina, Ana Fakin
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 3, p 1084 (2021)
Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel G
Externí odkaz:
https://doaj.org/article/d8d75b2f377c427099932851715d1170
Autor:
Maja, Potrč, Marija, Volk, Matteo, de Rosa, Jože, Pižem, Nataša, Teran, Helena, Jaklič, Aleš, Maver, Brigita, Drnovšek-Olup, Michela, Bollati, Katarina, Vogelnik, Alojzija, Hočevar, Ana, Gornik, Vladimir, Pfeifer, Borut, Peterlin, Marko, Hawlina, Ana, Fakin
Publikováno v:
International Journal of Molecular Sciences
Simple Summary Gelsolin amyloidosis is a rare autosomal dominant genetic disease, which typically affects the cornea, skin and sometimes other organ systems and is caused by mutations in a gene coding for gelsolin protein (GSN). We describe a novel m
Autor:
Katarina, Vogelnik, Ruben Perellón, Alfonso, Blaž, Koritnik, Polona, Klavžar, Lea, Leonardis, Leja Dolenc, Grošelj, Janez, Zidar, Maja, Kojovic
Publikováno v:
Amyotrophic lateral sclerosisfrontotemporal degeneration. 20(sup1)
Autor:
Jože Pižem, Natasa Teran, Ana Fakin, Matteo de Rosa, Marko Hawlina, Michela Bollati, Ana Gornik, Helena Jaklič, Borut Peterlin, Maja Potrč, Marija Volk, Brigita Drnovsek-Olup, Alojzija Hočevar, Vladimir Pfeifer, Katarina Vogelnik, Aleš Maver
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 3
International Journal of Molecular Sciences, Vol 22, Iss 1084, p 1084 (2021)
International journal of molecular sciences
22 (2021): 1–15. doi:10.3390/ijms22031084
info:cnr-pdr/source/autori:Potrc M.; Volk M.; de Rosa M.; Pizem J.; Teran N.; Jaklic H.; Maver A.; Drnovsek-Olup B.; Bollati M.; Vogelnik K.; Hocevar A.; Gornik A.; Pfeifer V.; Peterlin B.; Hawlina M.; Fakin A./titolo:Clinical and histopathological features of gelsolin amyloidosis associated with a novel gsn variant p.Glu580lys/doi:10.3390%2Fijms22031084/rivista:International journal of molecular sciences (Print)/anno:2021/pagina_da:1/pagina_a:15/intervallo_pagine:1–15/volume:22
International journal of molecular sciences, vol. 22, no. 3, 1084, 2021.
Volume 22
Issue 3
International Journal of Molecular Sciences, Vol 22, Iss 1084, p 1084 (2021)
International journal of molecular sciences
22 (2021): 1–15. doi:10.3390/ijms22031084
info:cnr-pdr/source/autori:Potrc M.; Volk M.; de Rosa M.; Pizem J.; Teran N.; Jaklic H.; Maver A.; Drnovsek-Olup B.; Bollati M.; Vogelnik K.; Hocevar A.; Gornik A.; Pfeifer V.; Peterlin B.; Hawlina M.; Fakin A./titolo:Clinical and histopathological features of gelsolin amyloidosis associated with a novel gsn variant p.Glu580lys/doi:10.3390%2Fijms22031084/rivista:International journal of molecular sciences (Print)/anno:2021/pagina_da:1/pagina_a:15/intervallo_pagine:1–15/volume:22
International journal of molecular sciences, vol. 22, no. 3, 1084, 2021.
Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel G
Autor:
Maja Kojovic, Katarina Vogelnik
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 34(1)
Autor:
Katarina Vogelnik, Aleš Matos
Publikováno v:
Wiener klinische Wochenschrift. 129(21-22)
Facial nerve palsy is a rare complication of acute otitis media (AOM). The general understanding is that this complication has a bacterial cause although bacteria can be isolated from the middle ear only in approximately two-thirds of cases of AOM. D
Autor:
Leja Dolenc Grošelj, Ruben Parellon Alfonso, Lea Leonardis, Polona Klavžar, Maja Kojovic, Katarina Vogelnik, Janez Zidar, Blaz Koritnik
Publikováno v:
Clinical Neurophysiology. 130:e90
Background We have commonly observed involuntary jerks and tremor in patients with otherwise typical motor neuron disease (MND). We conducted prospective clinical study to explore their prevalence and phenomenology. Materials and methods Seventy-four