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Astrid Pechmann

Showing results (31-40 of 55) with videos related to

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European Journal of Neurology|March 23, 2022
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophyDavid C Schorling, Heike Kölbel, Andreas Hentschel, et al.
Brain : a Journal of Neurology|December 23, 2025
Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registryCornelia Voigt-Müller, Michelle Pfaffenlehner, Günther Bernert, et al.
Orphanet Journal of Rare Diseases|January 23, 2019
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophyAstrid Pechmann, Kirsten König, Günther Bernert, et al.
Journal of Neuromuscular Diseases|April 26, 2018
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in GermanyAstrid Pechmann, Thorsten Langer, David Schorling, et al.
Frontiers in Pediatrics|November 30, 2023
High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophyJessika Johannsen, Deike Weiss, Joenna Driemeyer, et al.
Der Nervenarzt|May 13, 2020
[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)]Andreas Ziegler, Ekkehard Wilichowski, Ulrike Schara, et al.
Journal of Neurology|December 16, 2024
Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohortAndrea Gangfuß, Guido Goj, Silke Polz, et al.
European Journal of Human Genetics : EJHG|September 19, 2019
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variantSunitha Balaraju, Ana Töpf, Grace McMacken, et al.
European Journal of Neurology|July 15, 2022
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatmentEugenio Mercuri, Giovanni Baranello, Odile Boespflug-Tanguy, et al.
Muscle & Nerve|July 6, 2023
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE studyThomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, et al.
Pageof 6

Showing results (31-40 of 55) with videos related to

Sort By:
Pageof 6
European Journal of Neurology|March 23, 2022
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophyDavid C Schorling, Heike Kölbel, Andreas Hentschel, et al.
Brain : a Journal of Neurology|December 23, 2025
Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registryCornelia Voigt-Müller, Michelle Pfaffenlehner, Günther Bernert, et al.
Orphanet Journal of Rare Diseases|January 23, 2019
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophyAstrid Pechmann, Kirsten König, Günther Bernert, et al.
Journal of Neuromuscular Diseases|April 26, 2018
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in GermanyAstrid Pechmann, Thorsten Langer, David Schorling, et al.
Frontiers in Pediatrics|November 30, 2023
High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophyJessika Johannsen, Deike Weiss, Joenna Driemeyer, et al.
Der Nervenarzt|May 13, 2020
[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)]Andreas Ziegler, Ekkehard Wilichowski, Ulrike Schara, et al.
Journal of Neurology|December 16, 2024
Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohortAndrea Gangfuß, Guido Goj, Silke Polz, et al.
European Journal of Human Genetics : EJHG|September 19, 2019
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variantSunitha Balaraju, Ana Töpf, Grace McMacken, et al.
European Journal of Neurology|July 15, 2022
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatmentEugenio Mercuri, Giovanni Baranello, Odile Boespflug-Tanguy, et al.
Muscle & Nerve|July 6, 2023
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE studyThomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, et al.
Pageof 6