Janbernd Kirschner
Overview
Explore the profile of Janbernd Kirschner including associated specialties, affiliations and a list of published articles.
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160
Citations
6541
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Recent Articles
1.
Holzwarth D, Calaminus G, Friese J, Sejersen T, Buning H, John-Neek P, et al.
Mol Ther
. 2025 Feb;
PMID: 39955617
Spinal muscular atrophy (SMA) is a severe neuromuscular disease, leading to progressive muscle weakness and potentially early mortality if untreated. Onasemnogene abeparvovec is a recombinant adeno-associated virus serotype 9 (rAAV9)-based...
2.
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...
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.
Schwartz O, Pechmann A, Kirschner J
JAMA Pediatr
. 2024 Jul;
178(9):955.
PMID: 39073782
No abstract available.
5.
Kirschner J, Bernert G, Butoianu N, Waele L, Fattal-Valevski A, Haberlova J, et al.
Eur J Paediatr Neurol
. 2024 Jun;
51:73-78.
PMID: 38878702
Spinal muscular atrophy (SMA) is one of the most common genetic diseases and was, until recently, a leading genetic cause of infant mortality. Three disease-modifying treatments have dramatically changed the...
6.
Olimpio C, Paramonov I, Matalonga L, Laurie S, Schon K, Polavarapu K, et al.
J Neuromuscul Dis
. 2024 May;
11(4):767-775.
PMID: 38759022
Background: The genetic diagnosis of mitochondrial disorders is complicated by its genetic and phenotypic complexity. Next generation sequencing techniques have much improved the diagnostic yield for these conditions. A cohort...
7.
Chiriboga C, Bruno C, Duong T, Fischer D, Mercuri E, Kirschner J, et al.
J Neurol
. 2024 May;
271(8):4871-4884.
PMID: 38733387
Risdiplam is a once-daily oral, survival of motor neuron 2 (SMN2) splicing modifier approved for the treatment of spinal muscular atrophy (SMA). JEWELFISH (NCT03032172) investigated the safety, tolerability, pharmacokinetics (PK),...
8.
Martin S, Angolini E, Audi J, Bertini E, Bruno L, Coulter J, et al.
BMJ Open
. 2024 Apr;
14(4):e081835.
PMID: 38643010
Introduction: Rare diseases (RDs) collectively impact over 30 million people in Europe. Most individual conditions have a low prevalence which has resulted in a lack of research and expertise in...
9.
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...
10.
Minten T, Gold N, Bick S, Adelson S, Gehlenborg N, Amendola L, et al.
medRxiv
. 2024 Apr;
PMID: 38585998
Genomic sequencing is poised to expand newborn screening for treatable childhood-onset disorders. Over 30 international research studies and companies are exploring its use, collectively aiming to screen more than 500,000...