Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Simone Schimpf

Showing results (1-10 of 19) with videos related to

Pageof 2
Sort By:
Human Genetics|December 3, 2005
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 geneSimone Schimpf, Simone Schaich, Bernd Wissinger
Human Mutation|August 28, 2007
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codonsSimone Schimpf, Nico Fuhrmann, Simone Schaich, et al.
Ophthalmic Genetics|June 2, 2022
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosaNataša Mihailovic, Simone Schimpf-Linzenbold, Inga Sattler, et al.
Experimental Eye Research|May 16, 2006
Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophySharareh Dadgar, Olivier Hagens, Seyed Razi Dadgar, et al.
BMC Medical Genetics|April 10, 2019
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reportsKatja Kloth, Matthis Synofzik, Christoph Kernstock, et al.
Acta Ophthalmologica|July 30, 2021
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathiesKatarzyna Nowomiejska, Fadi Nasser, Katarina Stingl, et al.
Molecular Neurodegeneration|June 16, 2010
Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophyNico Fuhrmann, Simone Schimpf, York Kamenisch, et al.
Genes|October 21, 2017
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal DiseasesPablo Llavona, Michele Pinelli, Margherita Mutarelli, et al.
Plos One|July 9, 2021
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variantsNicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, et al.
Annals of Neurology|October 27, 2004
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophyRaffaele Lodi, Caterina Tonon, Maria Lucia Valentino, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Human Genetics|December 3, 2005
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 geneSimone Schimpf, Simone Schaich, Bernd Wissinger
Human Mutation|August 28, 2007
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codonsSimone Schimpf, Nico Fuhrmann, Simone Schaich, et al.
Ophthalmic Genetics|June 2, 2022
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosaNataša Mihailovic, Simone Schimpf-Linzenbold, Inga Sattler, et al.
Experimental Eye Research|May 16, 2006
Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophySharareh Dadgar, Olivier Hagens, Seyed Razi Dadgar, et al.
BMC Medical Genetics|April 10, 2019
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reportsKatja Kloth, Matthis Synofzik, Christoph Kernstock, et al.
Acta Ophthalmologica|July 30, 2021
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathiesKatarzyna Nowomiejska, Fadi Nasser, Katarina Stingl, et al.
Molecular Neurodegeneration|June 16, 2010
Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophyNico Fuhrmann, Simone Schimpf, York Kamenisch, et al.
Genes|October 21, 2017
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal DiseasesPablo Llavona, Michele Pinelli, Margherita Mutarelli, et al.
Plos One|July 9, 2021
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variantsNicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, et al.
Annals of Neurology|October 27, 2004
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophyRaffaele Lodi, Caterina Tonon, Maria Lucia Valentino, et al.
Pageof 2