The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model. [PDF]
Ann NeurolObjective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Rawlins LE +23 more
europepmc +2 more sources
Fluoroscopic guidance for bulla identification during ventral bulla osteotomy in eight French bulldogs. [PDF]
Vet Rec OpenAbstract Objective To describe the technique and outcome of fluoroscopy to guide bulla identification in French bulldogs during ventral bulla osteotomy. Materials and methods Medical records of eight French bulldogs with otitis media that underwent a fluoroscopic‐guided ventral bulla osteotomy between January 2020 and June 2023 were reviewed ...
Lu HY +3 more
europepmc +2 more sources
Rare GNAO1 Variant Presenting with Deep Brain Stimulation-Responsive Jaw-Opening Dystonia. [PDF]
Mov Disord Clin PractMovement Disorders Clinical Practice, Volume 12, Issue 8, Page 1196-1199, August 2025.
Maass F +4 more
europepmc +2 more sources
Eigenvalue order statistics for random Schr\"odinger operators with doubly-exponential tails [PDF]
, 2013 We consider random Schr\"odinger operators of the form $\Delta+\xi$, where $\Delta$ is the lattice Laplacian on $\mathbb Z^d$ and $\xi$ is an i.i.d. random field, and study the extreme order statistics of the eigenvalues for this operator restricted to ...
Biskup, Marek, Koenig, Wolfgang
core +1 more source
Subdiffusive heat-kernel decay in four-dimensional i.i.d. random conductance models [PDF]
, 2012 We study the diagonal heat-kernel decay for the four-dimensional nearest-neighbor random walk (on $\Z^4$) among i.i.d. random conductances that are positive, bounded from above but can have arbitrarily heavy tails at zero.
Biskup, Marek, Boukhadra, Omar
core +1 more source
Gibbs measures on permutations over one-dimensional discrete point sets [PDF]
, 2015 We consider Gibbs distributions on permutations of a locally finite infinite set $X\subset\mathbb{R}$, where a permutation $\sigma$ of $X$ is assigned (formal) energy $\sum_{x\in X}V(\sigma(x)-x)$.
Biskup, Marek, Richthammer, Thomas
core +1 more source
Quenched invariance principle for simple random walk on percolation clusters [PDF]
, 2005 We consider the simple random walk on the (unique) infinite cluster of super-critical bond percolation in $\Z^d$ with $d\ge2$. We prove that, for almost every percolation configuration, the path distribution of the walk converges weakly to that of non ...
Berger, Noam, Biskup, Marek
core +4 more sources
Arethas of Caesarea and Aristotelian studies. Study of case
Vox Patrum, 2015 Artykuł przybliża postać bizantyjskiego myśliciela, przedstawiciela renesansu bizantyjskiego, żyjącego w X w., biskupa Aretasa z Cezarei, oraz jego komentarz do Kategorii Arystotelesa.
Christos Terezis, Eirini Artemi
doaj +1 more source
, 2021 Recenzja: Jan Żelazny, Biskup Ojcem. Zarys eklezjologii syryjskiej na podstawie „Konstytucji apostolskich”, Kraków 2006, 296 s. (Rozprawa habilitacyjna)
openaire +3 more sources
Vexillum pseudoschafferi Biskupic 2020
, 2021 Vexillum pseudoschafferi Biskupič, 2020 Figs 14E 1 –E 2, F 1 –F 2, G * Vexillum pseudoschafferi sp. nov. — Biskupič 2020: 83, figs. 6–7. Type material. Holotype: Z 40033, SL: 11.7 mm, MD: 4.4 mm, Rohožník–Konopiská (Slovakia), illustrated in Biskupič (2020, figs 6A–B), 14E 1 –E 2. Paratypes: Z 40034, SL: 6.8 mm, MD: 2.7 mm, Rohožník–Konopiská (Slovakia)
Harzhauser, Mathias, Landau, Bernard
openaire +2 more sources