---
_id: '12364'
abstract:
- lang: eng
text: "Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders
character\x02ized by behavioral symptoms such as problems in social communication
and interaction, as\r\nwell as repetitive, restricted behaviors and interests.
These disorders show a high degree\r\nof heritability and hundreds of risk genes
have been identifed using high throughput\r\nsequencing technologies. This genetic
heterogeneity has hampered eforts in understanding\r\nthe pathogenesis of ASD
but at the same time given rise to the concept of convergent\r\nmechanisms. Previous
studies have identifed that risk genes for ASD broadly converge\r\nonto specifc
functional categories with transcriptional regulation being one of the biggest\r\ngroups.
In this thesis, I focus on this subgroup of genes and investigate the gene regulatory\r\nconsequences
of some of them in the context of neurodevelopment.\r\nFirst, we showed that mutations
in the ASD and intellectual disability risk gene Setd5 lead\r\nto perturbations
of gene regulatory programs in early cell fate specifcation. In addition,\r\nadult
animals display abnormal learning behavior which is mirrored at the transcriptional\r\nlevel
by altered activity dependent regulation of postsynaptic gene expression. Lastly,\r\nwe
link the regulatory function of Setd5 to its interaction with the Paf1 and the
NCoR\r\ncomplex.\r\nSecond, by modeling the heterozygous loss of the top ASD gene
CHD8 in human cerebral\r\norganoids we demonstrate profound changes in the developmental
trajectories of both\r\ninhibitory and excitatory neurons using single cell RNA-sequencing.
While the former\r\nwere generated earlier in CHD8+/- organoids, the generation
of the latter was shifted to\r\nlater times in favor of a prolonged progenitor
expansion phase and ultimately increased\r\norganoid size.\r\nFinally, by modeling
heterozygous mutations for four ASD associated chromatin modifers,\r\nASH1L, KDM6B,
KMT5B, and SETD5 in human cortical spheroids we show evidence of\r\nregulatory
convergence across three of those genes. We observe a shift from dorsal cortical\r\nexcitatory
neuron fates towards partially ventralized cell types resembling cells from the\r\nlateral
ganglionic eminence. As this project is still ongoing at the time of writing,
future\r\nexperiments will aim at elucidating the regulatory mechanisms underlying
this shift with\r\nthe aim of linking these three ASD risk genes through biological
convergence."
alternative_title:
- ISTA Thesis
article_processing_charge: No
author:
- first_name: Christoph
full_name: Dotter, Christoph
id: 4C66542E-F248-11E8-B48F-1D18A9856A87
last_name: Dotter
orcid: 0000-0002-9033-9096
citation:
ama: Dotter C. Transcriptional consequences of mutations in genes associated with
Autism Spectrum Disorder. 2022. doi:10.15479/at:ista:12094
apa: Dotter, C. (2022). Transcriptional consequences of mutations in genes associated
with Autism Spectrum Disorder. Institute of Science and Technology Austria.
https://doi.org/10.15479/at:ista:12094
chicago: Dotter, Christoph. “Transcriptional Consequences of Mutations in Genes
Associated with Autism Spectrum Disorder.” Institute of Science and Technology
Austria, 2022. https://doi.org/10.15479/at:ista:12094.
ieee: C. Dotter, “Transcriptional consequences of mutations in genes associated
with Autism Spectrum Disorder,” Institute of Science and Technology Austria, 2022.
ista: Dotter C. 2022. Transcriptional consequences of mutations in genes associated
with Autism Spectrum Disorder. Institute of Science and Technology Austria.
mla: Dotter, Christoph. Transcriptional Consequences of Mutations in Genes Associated
with Autism Spectrum Disorder. Institute of Science and Technology Austria,
2022, doi:10.15479/at:ista:12094.
short: C. Dotter, Transcriptional Consequences of Mutations in Genes Associated
with Autism Spectrum Disorder, Institute of Science and Technology Austria, 2022.
date_created: 2023-01-24T13:09:57Z
date_published: 2022-09-19T00:00:00Z
date_updated: 2023-11-16T13:10:22Z
day: '19'
ddc:
- '570'
degree_awarded: PhD
department:
- _id: GradSch
- _id: GaNo
doi: 10.15479/at:ista:12094
ec_funded: 1
file:
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date_updated: 2023-09-20T22:30:03Z
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has_accepted_license: '1'
language:
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month: '09'
oa: 1
oa_version: Published Version
page: '152'
project:
- _id: 254BA948-B435-11E9-9278-68D0E5697425
grant_number: '401299'
name: Probing development and reversibility of autism spectrum disorders
- _id: 9B91375C-BA93-11EA-9121-9846C619BF3A
grant_number: '707964'
name: Critical windows and reversibility of ASD associated with mutations in chromatin
remodelers
- _id: 25444568-B435-11E9-9278-68D0E5697425
call_identifier: H2020
grant_number: '715508'
name: Probing the Reversibility of Autism Spectrum Disorders by Employing in vivo
and in vitro Models
- _id: 2690FEAC-B435-11E9-9278-68D0E5697425
call_identifier: FWF
grant_number: I04205
name: Identification of converging Molecular Pathways Across Chromatinopathies as
Targets for Therapy
publication_identifier:
issn:
- 2663-337X
publication_status: published
publisher: Institute of Science and Technology Austria
related_material:
record:
- id: '3'
relation: part_of_dissertation
status: public
- id: '11160'
relation: part_of_dissertation
status: public
status: public
supervisor:
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
title: Transcriptional consequences of mutations in genes associated with Autism Spectrum
Disorder
type: dissertation
user_id: 8b945eb4-e2f2-11eb-945a-df72226e66a9
year: '2022'
...
---
_id: '9056'
abstract:
- lang: eng
text: "In this thesis we study persistence of multi-covers of Euclidean balls and
the geometric structures underlying their computation, in particular Delaunay
mosaics and Voronoi tessellations. The k-fold cover for some discrete input point
set consists of the space where at least k balls of radius r around the input
points overlap. Persistence is a notion that captures, in some sense, the topology
of the shape underlying the input. While persistence is usually computed for the
union of balls, the k-fold cover is of interest as it captures local density,\r\nand
thus might approximate the shape of the input better if the input data is noisy.
To compute persistence of these k-fold covers, we need a discretization that is
provided by higher-order Delaunay mosaics. We present and implement a simple and
efficient algorithm for the computation of higher-order Delaunay mosaics, and
use it to give experimental results for their combinatorial properties. The algorithm
makes use of a new geometric structure, the rhomboid tiling. It contains the higher-order
Delaunay mosaics as slices, and by introducing a filtration\r\nfunction on the
tiling, we also obtain higher-order α-shapes as slices. These allow us to compute
persistence of the multi-covers for varying radius r; the computation for varying
k is less straight-foward and involves the rhomboid tiling directly. We apply
our algorithms to experimental sphere packings to shed light on their structural
properties. Finally, inspired by periodic structures in packings and materials,
we propose and implement an algorithm for periodic Delaunay triangulations to
be integrated into the Computational Geometry Algorithms Library (CGAL), and discuss
the implications on persistence for periodic data sets."
alternative_title:
- ISTA Thesis
article_processing_charge: No
author:
- first_name: Georg F
full_name: Osang, Georg F
id: 464B40D6-F248-11E8-B48F-1D18A9856A87
last_name: Osang
orcid: 0000-0002-8882-5116
citation:
ama: Osang GF. Multi-cover persistence and Delaunay mosaics. 2021. doi:10.15479/AT:ISTA:9056
apa: Osang, G. F. (2021). Multi-cover persistence and Delaunay mosaics. Institute
of Science and Technology Austria, Klosterneuburg. https://doi.org/10.15479/AT:ISTA:9056
chicago: Osang, Georg F. “Multi-Cover Persistence and Delaunay Mosaics.” Institute
of Science and Technology Austria, 2021. https://doi.org/10.15479/AT:ISTA:9056.
ieee: G. F. Osang, “Multi-cover persistence and Delaunay mosaics,” Institute of
Science and Technology Austria, Klosterneuburg, 2021.
ista: 'Osang GF. 2021. Multi-cover persistence and Delaunay mosaics. Klosterneuburg:
Institute of Science and Technology Austria.'
mla: Osang, Georg F. Multi-Cover Persistence and Delaunay Mosaics. Institute
of Science and Technology Austria, 2021, doi:10.15479/AT:ISTA:9056.
short: G.F. Osang, Multi-Cover Persistence and Delaunay Mosaics, Institute of Science
and Technology Austria, 2021.
date_created: 2021-02-02T14:11:06Z
date_published: 2021-02-01T00:00:00Z
date_updated: 2023-09-07T13:29:01Z
day: '01'
ddc:
- '006'
- '514'
- '516'
degree_awarded: PhD
department:
- _id: HeEd
- _id: GradSch
doi: 10.15479/AT:ISTA:9056
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- iso: eng
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month: '02'
oa: 1
oa_version: Published Version
page: '134'
place: Klosterneuburg
publication_identifier:
issn:
- 2663-337X
publication_status: published
publisher: Institute of Science and Technology Austria
related_material:
record:
- id: '187'
relation: part_of_dissertation
status: public
- id: '8703'
relation: part_of_dissertation
status: public
status: public
supervisor:
- first_name: Herbert
full_name: Edelsbrunner, Herbert
id: 3FB178DA-F248-11E8-B48F-1D18A9856A87
last_name: Edelsbrunner
orcid: 0000-0002-9823-6833
title: Multi-cover persistence and Delaunay mosaics
tmp:
image: /images/cc_by.png
legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
short: CC BY (4.0)
type: dissertation
user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1
year: '2021'
...
---
_id: '9022'
abstract:
- lang: eng
text: "In the first part of the thesis we consider Hermitian random matrices. Firstly,
we consider sample covariance matrices XX∗ with X having independent identically
distributed (i.i.d.) centred entries. We prove a Central Limit Theorem for differences
of linear statistics of XX∗ and its minor after removing the first column of X.
Secondly, we consider Wigner-type matrices and prove that the eigenvalue statistics
near cusp singularities of the limiting density of states are universal and that
they form a Pearcey process. Since the limiting eigenvalue distribution admits
only square root (edge) and cubic root (cusp) singularities, this concludes the
third and last remaining case of the Wigner-Dyson-Mehta universality conjecture.
The main technical ingredients are an optimal local law at the cusp, and the proof
of the fast relaxation to equilibrium of the Dyson Brownian motion in the cusp
regime.\r\nIn the second part we consider non-Hermitian matrices X with centred
i.i.d. entries. We normalise the entries of X to have variance N −1. It is well
known that the empirical eigenvalue density converges to the uniform distribution
on the unit disk (circular law). In the first project, we prove universality of
the local eigenvalue statistics close to the edge of the spectrum. This is the
non-Hermitian analogue of the TracyWidom universality at the Hermitian edge. Technically
we analyse the evolution of the spectral distribution of X along the Ornstein-Uhlenbeck
flow for very long time\r\n(up to t = +∞). In the second project, we consider
linear statistics of eigenvalues for macroscopic test functions f in the Sobolev
space H2+ϵ and prove their convergence to the projection of the Gaussian Free
Field on the unit disk. We prove this result for non-Hermitian matrices with real
or complex entries. The main technical ingredients are: (i) local law for products
of two resolvents at different spectral parameters, (ii) analysis of correlated
Dyson Brownian motions.\r\nIn the third and final part we discuss the mathematically
rigorous application of supersymmetric techniques (SUSY ) to give a lower tail
estimate of the lowest singular value of X − z, with z ∈ C. More precisely, we
use superbosonisation formula to give an integral representation of the resolvent
of (X − z)(X − z)∗ which reduces to two and three contour integrals in the complex
and real case, respectively. The rigorous analysis of these integrals is quite
challenging since simple saddle point analysis cannot be applied (the main contribution
comes from a non-trivial manifold). Our result\r\nimproves classical smoothing
inequalities in the regime |z| ≈ 1; this result is essential to prove edge universality
for i.i.d. non-Hermitian matrices."
acknowledgement: I gratefully acknowledge the financial support from the European
Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie
Grant Agreement No. 665385 and my advisor’s ERC Advanced Grant No. 338804.
alternative_title:
- ISTA Thesis
article_processing_charge: No
author:
- first_name: Giorgio
full_name: Cipolloni, Giorgio
id: 42198EFA-F248-11E8-B48F-1D18A9856A87
last_name: Cipolloni
orcid: 0000-0002-4901-7992
citation:
ama: Cipolloni G. Fluctuations in the spectrum of random matrices. 2021. doi:10.15479/AT:ISTA:9022
apa: Cipolloni, G. (2021). Fluctuations in the spectrum of random matrices.
Institute of Science and Technology Austria. https://doi.org/10.15479/AT:ISTA:9022
chicago: Cipolloni, Giorgio. “Fluctuations in the Spectrum of Random Matrices.”
Institute of Science and Technology Austria, 2021. https://doi.org/10.15479/AT:ISTA:9022.
ieee: G. Cipolloni, “Fluctuations in the spectrum of random matrices,” Institute
of Science and Technology Austria, 2021.
ista: Cipolloni G. 2021. Fluctuations in the spectrum of random matrices. Institute
of Science and Technology Austria.
mla: Cipolloni, Giorgio. Fluctuations in the Spectrum of Random Matrices.
Institute of Science and Technology Austria, 2021, doi:10.15479/AT:ISTA:9022.
short: G. Cipolloni, Fluctuations in the Spectrum of Random Matrices, Institute
of Science and Technology Austria, 2021.
date_created: 2021-01-21T18:16:54Z
date_published: 2021-01-25T00:00:00Z
date_updated: 2023-09-07T13:29:32Z
day: '25'
ddc:
- '510'
degree_awarded: PhD
department:
- _id: GradSch
- _id: LaEr
doi: 10.15479/AT:ISTA:9022
ec_funded: 1
file:
- access_level: open_access
checksum: 5a93658a5f19478372523ee232887e2b
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month: '01'
oa: 1
oa_version: Published Version
page: '380'
project:
- _id: 2564DBCA-B435-11E9-9278-68D0E5697425
call_identifier: H2020
grant_number: '665385'
name: International IST Doctoral Program
- _id: 258DCDE6-B435-11E9-9278-68D0E5697425
call_identifier: FP7
grant_number: '338804'
name: Random matrices, universality and disordered quantum systems
publication_identifier:
issn:
- 2663-337X
publication_status: published
publisher: Institute of Science and Technology Austria
status: public
supervisor:
- first_name: László
full_name: Erdös, László
id: 4DBD5372-F248-11E8-B48F-1D18A9856A87
last_name: Erdös
orcid: 0000-0001-5366-9603
title: Fluctuations in the spectrum of random matrices
type: dissertation
user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1
year: '2021'
...
---
_id: '10007'
abstract:
- lang: eng
text: The present thesis is concerned with the derivation of weak-strong uniqueness
principles for curvature driven interface evolution problems not satisfying a
comparison principle. The specific examples being treated are two-phase Navier-Stokes
flow with surface tension, modeling the evolution of two incompressible, viscous
and immiscible fluids separated by a sharp interface, and multiphase mean curvature
flow, which serves as an idealized model for the motion of grain boundaries in
an annealing polycrystalline material. Our main results - obtained in joint works
with Julian Fischer, Tim Laux and Theresa M. Simon - state that prior to the formation
of geometric singularities due to topology changes, the weak solution concept
of Abels (Interfaces Free Bound. 9, 2007) to two-phase Navier-Stokes flow with
surface tension and the weak solution concept of Laux and Otto (Calc. Var. Partial
Differential Equations 55, 2016) to multiphase mean curvature flow (for networks
in R^2 or double bubbles in R^3) represents the unique solution to these interface
evolution problems within the class of classical solutions, respectively. To the
best of the author's knowledge, for interface evolution problems not admitting
a geometric comparison principle the derivation of a weak-strong uniqueness principle
represented an open problem, so that the works contained in the present thesis
constitute the first positive results in this direction. The key ingredient of
our approach consists of the introduction of a novel concept of relative entropies
for a class of curvature driven interface evolution problems, for which the associated
energy contains an interfacial contribution being proportional to the surface
area of the evolving (network of) interface(s). The interfacial part of the relative
entropy gives sufficient control on the interface error between a weak and a classical
solution, and its time evolution can be computed, at least in principle, for any
energy dissipating weak solution concept. A resulting stability estimate for the
relative entropy essentially entails the above mentioned weak-strong uniqueness
principles. The present thesis contains a detailed introduction to our relative
entropy approach, which in particular highlights potential applications to other
problems in curvature driven interface evolution not treated in this thesis.
alternative_title:
- ISTA Thesis
article_processing_charge: No
author:
- first_name: Sebastian
full_name: Hensel, Sebastian
id: 4D23B7DA-F248-11E8-B48F-1D18A9856A87
last_name: Hensel
orcid: 0000-0001-7252-8072
citation:
ama: 'Hensel S. Curvature driven interface evolution: Uniqueness properties of weak
solution concepts. 2021. doi:10.15479/at:ista:10007'
apa: 'Hensel, S. (2021). Curvature driven interface evolution: Uniqueness properties
of weak solution concepts. Institute of Science and Technology Austria. https://doi.org/10.15479/at:ista:10007'
chicago: 'Hensel, Sebastian. “Curvature Driven Interface Evolution: Uniqueness Properties
of Weak Solution Concepts.” Institute of Science and Technology Austria, 2021.
https://doi.org/10.15479/at:ista:10007.'
ieee: 'S. Hensel, “Curvature driven interface evolution: Uniqueness properties of
weak solution concepts,” Institute of Science and Technology Austria, 2021.'
ista: 'Hensel S. 2021. Curvature driven interface evolution: Uniqueness properties
of weak solution concepts. Institute of Science and Technology Austria.'
mla: 'Hensel, Sebastian. Curvature Driven Interface Evolution: Uniqueness Properties
of Weak Solution Concepts. Institute of Science and Technology Austria, 2021,
doi:10.15479/at:ista:10007.'
short: 'S. Hensel, Curvature Driven Interface Evolution: Uniqueness Properties of
Weak Solution Concepts, Institute of Science and Technology Austria, 2021.'
date_created: 2021-09-13T11:12:34Z
date_published: 2021-09-14T00:00:00Z
date_updated: 2023-09-07T13:30:45Z
day: '14'
ddc:
- '515'
degree_awarded: PhD
department:
- _id: GradSch
- _id: JuFi
doi: 10.15479/at:ista:10007
ec_funded: 1
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date_created: 2021-09-13T11:03:24Z
date_updated: 2021-09-15T14:37:30Z
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oa: 1
oa_version: Published Version
page: '300'
project:
- _id: 2564DBCA-B435-11E9-9278-68D0E5697425
call_identifier: H2020
grant_number: '665385'
name: International IST Doctoral Program
- _id: 0aa76401-070f-11eb-9043-b5bb049fa26d
call_identifier: H2020
grant_number: '948819'
name: Bridging Scales in Random Materials
publication_identifier:
issn:
- 2663-337X
publication_status: published
publisher: Institute of Science and Technology Austria
related_material:
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- id: '10012'
relation: part_of_dissertation
status: public
- id: '10013'
relation: part_of_dissertation
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- id: '7489'
relation: part_of_dissertation
status: public
status: public
supervisor:
- first_name: Julian L
full_name: Fischer, Julian L
id: 2C12A0B0-F248-11E8-B48F-1D18A9856A87
last_name: Fischer
orcid: 0000-0002-0479-558X
title: 'Curvature driven interface evolution: Uniqueness properties of weak solution
concepts'
type: dissertation
user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1
year: '2021'
...
---
_id: '10030'
abstract:
- lang: eng
text: "This PhD thesis is primarily focused on the study of discrete transport problems,
introduced for the first time in the seminal works of Maas [Maa11] and Mielke
[Mie11] on finite state Markov chains and reaction-diffusion equations, respectively.
More in detail, my research focuses on the study of transport costs on graphs,
in particular the convergence and the stability of such problems in the discrete-to-continuum
limit. This thesis also includes some results concerning\r\nnon-commutative optimal
transport. The first chapter of this thesis consists of a general introduction
to the optimal transport problems, both in the discrete, the continuous, and the
non-commutative setting. Chapters 2 and 3 present the content of two works, obtained
in collaboration with Peter Gladbach, Eva Kopfer, and Jan Maas, where we have
been able to show the convergence of discrete transport costs on periodic graphs
to suitable continuous ones, which can be described by means of a homogenisation
result. We first focus on the particular case of quadratic costs on the real line
and then extending the result to more general costs in arbitrary dimension. Our
results are the first complete characterisation of limits of transport costs on
periodic graphs in arbitrary dimension which do not rely on any additional symmetry.
In Chapter 4 we turn our attention to one of the intriguing connection between
evolution equations and optimal transport, represented by the theory of gradient
flows. We show that discrete gradient flow structures associated to a finite volume
approximation of a certain class of diffusive equations (Fokker–Planck) is stable
in the limit of vanishing meshes, reproving the convergence of the scheme via
the method of evolutionary Γ-convergence and exploiting a more variational point
of view on the problem. This is based on a collaboration with Dominik Forkert
and Jan Maas. Chapter 5 represents a change of perspective, moving away from the
discrete world and reaching the non-commutative one. As in the discrete case,
we discuss how classical tools coming from the commutative optimal transport can
be translated into the setting of density matrices. In particular, in this final
chapter we present a non-commutative version of the Schrödinger problem (or entropic
regularised optimal transport problem) and discuss existence and characterisation
of minimisers, a duality result, and present a non-commutative version of the
well-known Sinkhorn algorithm to compute the above mentioned optimisers. This
is based on a joint work with Dario Feliciangeli and Augusto Gerolin. Finally,
Appendix A and B contain some additional material and discussions, with particular
attention to Harnack inequalities and the regularity of flows on discrete spaces."
acknowledged_ssus:
- _id: M-Shop
- _id: NanoFab
acknowledgement: The author gratefully acknowledges support by the Austrian Science
Fund (FWF), grants No W1245.
alternative_title:
- ISTA Thesis
article_processing_charge: No
author:
- first_name: Lorenzo
full_name: Portinale, Lorenzo
id: 30AD2CBC-F248-11E8-B48F-1D18A9856A87
last_name: Portinale
citation:
ama: Portinale L. Discrete-to-continuum limits of transport problems and gradient
flows in the space of measures. 2021. doi:10.15479/at:ista:10030
apa: Portinale, L. (2021). Discrete-to-continuum limits of transport problems
and gradient flows in the space of measures. Institute of Science and Technology
Austria. https://doi.org/10.15479/at:ista:10030
chicago: Portinale, Lorenzo. “Discrete-to-Continuum Limits of Transport Problems
and Gradient Flows in the Space of Measures.” Institute of Science and Technology
Austria, 2021. https://doi.org/10.15479/at:ista:10030.
ieee: L. Portinale, “Discrete-to-continuum limits of transport problems and gradient
flows in the space of measures,” Institute of Science and Technology Austria,
2021.
ista: Portinale L. 2021. Discrete-to-continuum limits of transport problems and
gradient flows in the space of measures. Institute of Science and Technology Austria.
mla: Portinale, Lorenzo. Discrete-to-Continuum Limits of Transport Problems and
Gradient Flows in the Space of Measures. Institute of Science and Technology
Austria, 2021, doi:10.15479/at:ista:10030.
short: L. Portinale, Discrete-to-Continuum Limits of Transport Problems and Gradient
Flows in the Space of Measures, Institute of Science and Technology Austria, 2021.
date_created: 2021-09-21T09:14:15Z
date_published: 2021-09-22T00:00:00Z
date_updated: 2023-09-07T13:31:06Z
day: '22'
ddc:
- '515'
degree_awarded: PhD
department:
- _id: GradSch
- _id: JaMa
doi: 10.15479/at:ista:10030
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name: Dissipation and Dispersion in Nonlinear Partial Differential Equations
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supervisor:
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full_name: Maas, Jan
id: 4C5696CE-F248-11E8-B48F-1D18A9856A87
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orcid: 0000-0002-0845-1338
title: Discrete-to-continuum limits of transport problems and gradient flows in the
space of measures
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legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
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