المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/journal_contribution/S1_Raw_images_-/14943134

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.s003

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/figure/Distribution_of_i_OPA1_i_variants_/14943137

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.g001

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/figure/Direct_cDNA_analysis_from_patients_blood_samples_/14943128

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.s001

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/figure/_i_In_vitro_i_splice_assays_of_variants_c_2014-10A_G_A_C_and_c_2356-8T_G_B_D_/14943131

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.s002

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/dataset/Ten_most_frequent_variants_in_our_cohort_/14943152

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.t004

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/figure/Novel_amino_acid_substitution_variants_in_i_OPA1_i_classified_as_VUS_/14943140

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.g002

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants

Relation: https://figshare.com/articles/dataset/Demographic_data_of_study_cohort_/14943143

الاتاحة: https://doi.org/10.1371/journal.pone.0253987.t001