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Veronka Horber

Showing results (21-30 of 30) with videos related to

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The Lancet Regional Health. Europe|October 22, 2024
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyClaudia Weiß, Lena-Luise Becker, Johannes Friese, et al.
The Lancet. Child & Adolescent Health|November 10, 2021
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort studyClaudia Weiß, Andreas Ziegler, Lena-Luise Becker, et al.
American Journal of Medical Genetics. Part A|August 11, 2020
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndromeSandra Donkervoort, Payam Mohassel, Lucia Laugwitz, et al.
Journal of Neuromuscular Diseases|December 4, 2022
Newbornscreening SMA - From Pilot Project to Nationwide Screening in GermanyWolfgang Müller-Felber, Astrid Blaschek, Oliver Schwartz, et al.
Brain : a Journal of Neurology|July 20, 2022
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
Journal of Neuromuscular Diseases|November 24, 2025
Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidenceClaudia Weiß, Katharina Vill, Matthias Baumann, et al.
Orphanet Journal of Rare Diseases|October 24, 2022
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry studyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
European Journal of Medical Genetics|July 21, 2020
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, et al.
Journal of Neurology|February 27, 2024
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2Katharina Vill, Moritz Tacke, Anna König, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
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Showing results (21-30 of 30) with videos related to

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You have reached the last page of results.This site can display upto 30 results.
The Lancet Regional Health. Europe|October 22, 2024
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyClaudia Weiß, Lena-Luise Becker, Johannes Friese, et al.
The Lancet. Child & Adolescent Health|November 10, 2021
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort studyClaudia Weiß, Andreas Ziegler, Lena-Luise Becker, et al.
American Journal of Medical Genetics. Part A|August 11, 2020
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndromeSandra Donkervoort, Payam Mohassel, Lucia Laugwitz, et al.
Journal of Neuromuscular Diseases|December 4, 2022
Newbornscreening SMA - From Pilot Project to Nationwide Screening in GermanyWolfgang Müller-Felber, Astrid Blaschek, Oliver Schwartz, et al.
Brain : a Journal of Neurology|July 20, 2022
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
Journal of Neuromuscular Diseases|November 24, 2025
Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidenceClaudia Weiß, Katharina Vill, Matthias Baumann, et al.
Orphanet Journal of Rare Diseases|October 24, 2022
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry studyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
European Journal of Medical Genetics|July 21, 2020
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, et al.
Journal of Neurology|February 27, 2024
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2Katharina Vill, Moritz Tacke, Anna König, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
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