المؤلفون: Massimiliano Alfano, Luca De Antoni, Federica Centofanti, Virginia Veronica Visconti, Simone Maestri, Chiara Degli Esposti, Roberto Massa, Maria Rosaria D'Apice, Giuseppe Novelli, Massimo Delledonne, Annalisa Botta, Marzia Rossato

المصدر: eLife, Vol 11 (2022)

مصطلحات موضوعية: myotonic dystrophy type 2, CNBP gene, repeat expansion, Cas9-mediated enrichment, nanopore sequencing, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/80229; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/ec20646ddd49404e96422df4ccaa723e

المؤلفون: Luca De Antoni, Massimiliano Alfano, Federica Centofanti, Virginia Veronica Visconti, Simone Maestri, Chiara Degli Esposti, Roberto Massa, Maria Rosaria D'Apice, Giuseppe Novelli, Massimo Delledonne, Annalisa Botta, Marzia Rossato

مصطلحات موضوعية: Cas9-mediated enrichment, General Immunology and Microbiology, General Neuroscience, repeat expansion, RNA-Binding Proteins, General Medicine, General Biochemistry, Genetics and Molecular Biology, Nanopore Sequencing, Settore MED/03, genomics, Humans, Myotonic Dystrophy, CNBP gene, genetics, human, CRISPR-Cas Systems, myotonic dystrophy type 2, Alleles, Genetic Association Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30b2bfe05b18b8cbd505498671eb5f5c
https://hdl.handle.net/11562/1079038

المؤلفون: Martina Witsch-Baumgartner, Georg Safoschnik, Josef Finsterer

المصدر: SAGE Open Medical Case Reports, Vol 5 (2017)
SAGE Open Medical Case Reports

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Myotonic dystrophy, Myotonic dystrophy type 2, Case Report, Physical exercise, ZNF9, Proximal myotonic myopathy, 03 medical and health sciences, 0302 clinical medicine, CCTG-expansion, physical exercise, medicine, lcsh:R5-920, Leukopenia, business.industry, General Medicine, Myotonia, medicine.disease, myotonia, 030104 developmental biology, CNBP gene, medicine.symptom, sport, business, lcsh:Medicine (General), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::171d4e73dce78cb1daf54dcdf9bcc929
https://doaj.org/article/48994d8044b4465fbd380fc4f8398054

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المؤلفون: Alfano M; Department of Biotechnology, University of Verona, Verona, Italy., De Antoni L; Department of Biotechnology, University of Verona, Verona, Italy., Centofanti F; Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Rome, Italy., Visconti VV; Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Rome, Italy., Maestri S; Department of Biotechnology, University of Verona, Verona, Italy., Degli Esposti C; Department of Biotechnology, University of Verona, Verona, Italy., Massa R; Department of Systems Medicine (Neurology), University of Rome Tor Vergata, Rome, Italy., D'Apice MR; Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy., Novelli G; Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Rome, Italy.; IRCCS Neuromed, Via Atinense, Molise, Italy.; Department of Pharmacology, School of Medicine, University of Nevada Reno, Reno, United States., Delledonne M; Department of Biotechnology, University of Verona, Verona, Italy.; Genartis s.r.l., Via P. Mascagni, Castel D'azzano, Italy., Botta A; Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Rome, Italy., Rossato M; Department of Biotechnology, University of Verona, Verona, Italy.; Genartis s.r.l., Via P. Mascagni, Castel D'azzano, Italy.

المصدر: ELife [Elife] 2022 Aug 26; Vol. 11. Date of Electronic Publication: 2022 Aug 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: Myotonic Dystrophy*/genetics , Nanopore Sequencing*, Alleles ; CRISPR-Cas Systems ; Genetic Association Studies ; Humans ; RNA-Binding Proteins/genetics

المؤلفون: Finsterer J; Krankenanstalt Rudolfstiftung, Vienna, Austria., Safoschnik G; First Neurological Department, Hospital Hietzing, Vienna, Austria., Witsch-Baumgartner M; Center of Medical Genetics, Medical University of Innsbruck, Innsbruck, Austria.

المصدر: SAGE open medical case reports [SAGE Open Med Case Rep] 2017 Apr 10; Vol. 5, pp. 2050313X17703021. Date of Electronic Publication: 2017 Apr 10 (Print Publication: 2017).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: SAGE Publications Country of Publication: England NLM ID: 101638686 Publication Model: eCollection Cited Medium: Print ISSN: 2050-313X (Print) Linking ISSN: 2050313X NLM ISO Abbreviation: SAGE Open Med Case Rep Subsets: PubMed not MEDLINE