Product
Help
Pricing
About
Jobs
Log in
Get started
Author
Add to collection
Sophia-Martha kleine Holthaus
Observed names:
Sophia Kleine Holthaus,
Sophia-Martha Kleine Holthaus,
Sophia-Martha kleine-Holthaus
Institution:
University College London
Observed institutions:
NIHR Moorfields Biomedical Research Centre,
MRC Laboratory for Molecular Cell Biology,
Moorfields Eye Hospital,
University College London
OpenAlex ID:
A5048451340
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis
2018
·
Sara E Mole
, Glenn Anderson
, et al.
·
The Lancet Neurology
·
206
PDF
Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179
2015
·
Koji M. Nishiguchi
, Livia S. Carvalho
, et al.
·
Nature Communications
·
94
PDF
Use of model organisms for the study of neuronal ceroid lipofuscinosis
2013
·
Michael Bond
, Sophia-Martha kleine Holthaus
, et al.
·
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
·
91
PDF
Assessment of AAV Vector Tropisms for Mouse and Human Pluripotent Stem Cell–Derived RPE and Photoreceptor Cells
2018
·
Anai Gonzalez-Cordero
, Debbie Goh
, et al.
·
Human Gene Therapy
·
76
Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy
2019
·
Genevieve A. Wright
, Michalis Georgiou
, et al.
·
Ophthalmology Retina
·
57
PDF
The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors
2014
·
Ulrich F.O. Luhmann
, Livia S. Carvalho
, et al.
·
Human Molecular Genetics
·
48
PDF
Prevention of Photoreceptor Cell Loss in a Cln6 Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells
2018
·
Sophia-Martha kleine Holthaus
, Joana Ribeiro
, et al.
·
Molecular Therapy
·
45
PDF
Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease
2020
·
Sophia-Martha kleine Holthaus
, Mikel Aristorena
, et al.
·
Human Gene Therapy
·
37
PDF
Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease
2019
·
Sophia-Martha kleine Holthaus
, Saul Herranz-Martin
, et al.
·
Human Molecular Genetics
·
31
PDF
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder
2015
·
Inés Adriana Cismondi
, Romina Kohan
, et al.
·
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
·
21
PDF
Experimental gene therapies for the NCLs
2020
·
Wenfei Liu
, Sophia-Martha kleine-Holthaus
, et al.
·
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
·
16
PDF
Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses
2018
·
Sophia-Martha kleine Holthaus
, Alexander J. Smith
, et al.
·
Advances in experimental medicine and biology
·
15
Gene therapy to improve vision in neuronal ceroid lipofuscinoses
2016
·
SM Kleine Holthaus
·
UCL Discovery (University College London)
Gene therapy restores vision in rd1 mice after removal of a confounding mutation inGpr179
2015
·
Lívia S. Carvalho
, Koji NISHIGUCHI
, et al.
·
Investigative Ophthalmology & Visual Science
Retinal phenotype in Cln6nclf mice, a mouse model of neuronal ceroid lipofuscinoses, amenable to AAV mediated gene therapy
2014
·
Sophia Kleine Holthaus
, Ulrich F. O. Luhmann
, et al.
·
Investigative Ophthalmology & Visual Science
Show more works
View as search
Works count:
13
Citation count:
680
H-index:
11
I10-index:
11
Year
Topic
Type
