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Št. zadetkov: 2
Early manifestations, diagnostic pathways, and epilepsy in juvenile-onset Huntington disease
Mirjana Perković-Benedik, Tanja Loboda, Katarina Benedik Kafol, Jan Kafol, Neli Bizjak
Izvirni znanstveni članek
Oznake: juvenile-onset Huntington disease;epilepsy;HTT CAG repeat expansion;basal ganglia;systematic review;seizures;
Background: Juvenile-onset Huntington disease (JoHD) is a rare form of Huntington disease characterized by symptom onset at or before 20 years of age. Early manifestations are often non-choreic and may be attributed to developmental, psychiatric, movement, metabolic, or epileptic disorders. We descr ...
Leto: 2026 Vir: Repozitorij Univerze v Ljubljani (RUL)
VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome
Jan Kafol, Barbara Gnidovec Stražišar, Ana Drole Torkar, Matjaž Homan, Sara Bertok, Matej Mlinarič, Jaka Šikonja, Jernej Kovač, Mirjana Perković-Benedik, Tanja Kersnik-Levart, Mojca Žerjav-Tanšek, Marina Praprotnik, Tadej Battelino, Maruša Debeljak, Urh Grošelj, Urh Grošelj
Pregledni znanstveni članek
Oznake: ARC syndrome;ARCS2;Arthrogryposis–renal dysfunction–cholestasis syndrome;VIPAR;VIPAS39;
Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor. Results: We present two related patients from Kosovo, describing the clinical, geneti ...
Leto: 2024 Vir: Repozitorij Univerze v Ljubljani (RUL)
Št. zadetkov: 2
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