Astrid Pechmann
Overview
Explore the profile of Astrid Pechmann including associated specialties, affiliations and a list of published articles.
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Articles
48
Citations
767
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Recent Articles
1.
Hackenberg M, Pfaffenlehner M, Behrens M, Pechmann A, Kirschner J, Binder H
Biom J
. 2024 Dec;
67(1):e70023.
PMID: 39698740
In a longitudinal clinical registry, different measurement instruments might have been used for assessing individuals at different time points. To combine them, we investigate deep learning techniques for obtaining a...
2.
Gangfuss A, Goj G, Polz S, Marina A, Hentschel A, Ahlbory K, et al.
J Neurol
. 2024 Dec;
272(1):63.
PMID: 39680150
Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease affecting the peripheral and central nervous system and is caused by bi-allelic variants in the GAN gene, leading to loss of...
3.
Weiss C, Becker L, Friese J, Blaschek A, Hahn A, Illsinger S, et al.
Lancet Reg Health Eur
. 2024 Oct;
47:101092.
PMID: 39434961
Background: Real-world data on gene addition therapy (GAT) with onasemnogene abeparvovec (OA), including all age groups and with or without symptoms of the disease before treatment are needed to provide...
4.
Trollmann R, Johannsen J, Vill K, Kohler C, Hahn A, Illsinger S, et al.
Orphanet J Rare Dis
. 2024 Sep;
19(1):353.
PMID: 39327607
Background: The introduction of newborn screening (NBS) for spinal muscular atrophy (SMA) has increased the early diagnosis of 5q-associated SMA in presymptomatic and symptomatic preterm infants. National and international recommendations...
5.
Schwartz O, Pechmann A, Kirschner J
JAMA Pediatr
. 2024 Jul;
178(9):955.
PMID: 39073782
No abstract available.
6.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiss C, Johannsen J, et al.
JAMA Pediatr
. 2024 Apr;
178(6):540-547.
PMID: 38587854
Importance: There is increasing evidence that early diagnosis and treatment are key for outcomes in infants with spinal muscular atrophy (SMA), and newborn screening programs have been implemented to detect...
7.
Vill K, Tacke M, Konig A, Baumann M, Baumgartner M, Steinbach M, et al.
J Neurol
. 2024 Feb;
271(5):2787-2797.
PMID: 38409538
Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is...
8.
GuNTHER R, Wurster C, Brakemeier S, Osmanovic A, Schreiber-Katz O, Petri S, et al.
Lancet Reg Health Eur
. 2024 Feb;
39:100862.
PMID: 38361750
Background: Evidence for the efficacy of nusinersen in adults with 5q-associated spinal muscular atrophy (SMA) has been demonstrated up to a period of 16 months in relatively large cohorts but...
9.
Johannsen J, Weiss D, Driemeyer J, Olfe J, Stute F, Muller F, et al.
Front Pediatr
. 2023 Nov;
11:1259293.
PMID: 38034835
Background: Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease leading to muscular weakness and premature death. Three therapeutic options are currently available including gene replacement therapy (GRT), which is...
10.
Willems J, Pechmann A, Wider S, Ambs R, Meyer S, Cascante I, et al.
Front Pediatr
. 2023 Oct;
11:1212012.
PMID: 37808564
Introduction: Spinal muscular atrophy (SMA) is a rare neuromuscular disease requiring various clinical specialists and therapists to provide care. Due to the disease's dynamic nature and the long distances between...