User profiles for "author:N Barisic"
Neven BarišićDepartment 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 …
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 …
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
Electronic inhomogeneity appears to be an inherent characteristic of the enigmatic cuprate
superconductors. Here we report the observation of charge–density–wave correlations in …
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 …
mutations have recently been associated with epilepsy and neurodevelopmental disorders …
[PDF][PDF] De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …
Unusual magnetic order in the pseudogap region of the superconductor HgBa2CuO4+δ
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 …
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 …
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
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 …
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
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 …
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
Objective Autosomal recessive pathogenic variants of the SLC13A5 gene are associated
with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. We …
with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. We …