User profiles for "author:N Barisic"

Neven Barišić

Department of Physics, Faculty of Science, University of Zagreb, Bijenička cesta 32, 10000 …
Verified email at phy.hr
Cited by 4001

Charcot‐marie‐tooth disease: a clinico‐genetic confrontation

N Barisic, KG Claeys… - Annals of human …, 2008 - Wiley Online Library
Summary Charcot‐Marie‐Tooth disease (CMT) is the most common neuromuscular
disorder. It represents a group of clinically and genetically heterogeneous inherited …

The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

CL Bladen, D Salgado, S Monges… - Human …, 2015 - Wiley Online Library
Analyzing the type and frequency of patient‐specific mutations that give rise to Duchenne
muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research …

[HTML][HTML] Charge order and its connection with Fermi-liquid charge transport in a pristine high-Tc cuprate

W Tabis, Y Li, ML Tacon, L Braicovich… - Nature …, 2014 - nature.com
Electronic inhomogeneity appears to be an inherent characteristic of the enigmatic cuprate
superconductors. Here we report the observation of charge–density–wave correlations in …

The phenotypic spectrum of SCN8A encephalopathy

…, E Gardella, G Kluger, G Schmiedel, N Barisic… - Neurology, 2015 - AAN Enterprises
Objective: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1. 6). SCN8A
mutations have recently been associated with epilepsy and neurodevelopmental disorders …

[PDF][PDF] De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

S Appenzeller, R Balling, N Barisic, S Baulac… - The American Journal of …, 2014 - cell.com
Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …

Unusual magnetic order in the pseudogap region of the superconductor HgBa2CuO4+δ

Y Li, V Balédent, N Barišić, Y Cho, B Fauqué, Y Sidis… - Nature, 2008 - nature.com
The pseudogap region of the phase diagram is an important unsolved puzzle in the field of
high-transition-temperature (high-T c) superconductivity, characterized by anomalous …

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

…, D Osredkar, T Adoukonou, O Aryani, N Barisic… - Neuromuscular …, 2021 - Elsevier
Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying
treatments have recently been approved and early treatment has been related to a better …

[PDF][PDF] Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

YCA Feng, DP Howrigan, LE Abbott, K Tashman… - The American Journal of …, 2019 - cell.com
Sequencing-based studies have identified novel risk genes associated with severe
epilepsies and revealed an excess of rare deleterious variation in less-severe forms of …

Universal sheet resistance and revised phase diagram of the cuprate high-temperature superconductors

N Barišić, MK Chan, Y Li, G Yu… - Proceedings of the …, 2013 - National Acad Sciences
Upon introducing charge carriers into the copper–oxygen sheets of the enigmatic lamellar
cuprates, the ground state evolves from an insulator to a superconductor and eventually to a …

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene

…, J Oertel, D Craiu, TB Hammer, RS Møller, N Barisic… - …, 2020 - Wiley Online Library
Objective Autosomal recessive pathogenic variants of the SLC13A5 gene are associated
with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. We …