Jonas Denecke
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Explore the profile of Jonas Denecke including associated specialties, affiliations and a list of published articles.
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96
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1688
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Recent Articles
1.
Zang J, Weiss D, Dumitrascu C, Glinzer J, Wegner M, Strube A, et al.
Orphanet J Rare Dis
. 2025 Jan;
20(1):24.
PMID: 39815373
Background: Bulbar function is frequently impaired in patients with spinal muscular atrophy (SMA). Although extremely important for the patient's quality of life, it is difficult to address therapeutically. Due to...
2.
Cramer P, Nikolaus M, Loos S, Denecke J, Knierim E, Muller D, et al.
Eur J Paediatr Neurol
. 2025 Jan;
54:58-63.
PMID: 39752845
Background: Therapeutic apheresis (TA) are promising treatment option for neuroimmunological disorders. In paediatrics, the available data is limited, particularly for the use of IA. The aim of this study was...
3.
Tavares de Sousa M, Schonnagel B, Denecke J, Herrmann J
Rofo
. 2024 Dec;
PMID: 39642925
Congenital abnormalities occur in about 3 in 100 fetuses. Prenatal ultrasound is the standard technique to detect these fetal abnormalities. In Germany, three ultrasound examinations are provided in the first,...
4.
Brandt M, Driemeyer J, Johannsen J, Denecke J, Inhestern L, Bergelt C
BMC Psychol
. 2024 Oct;
12(1):566.
PMID: 39420400
Background: Spinal muscular atrophy is a rare neurodegenerative disorder in children which leads untreated to muscle wasting, respiratory impairments, and a shortened life expectancy. Parents as primary caregivers are often...
5.
Bettinger C, Dulz S, Atiskova Y, Guerreiro H, Schon G, Guder P, et al.
J Clin Med
. 2024 Sep;
13(17).
PMID: 39274327
Leukodystrophies are a group of rare genetic diseases that primarily affect the white matter of the central nervous system. The broad spectrum of metabolic and pathological causes leads to manifestations...
6.
Morimoto M, Ryu E, Steger B, Dixit A, Saito Y, Yoo J, et al.
Am J Hum Genet
. 2024 Aug;
111(9):1970-1993.
PMID: 39106866
The precise regulation of DNA replication is vital for cellular division and genomic integrity. Central to this process is the replication factor C (RFC) complex, encompassing five subunits, which loads...
7.
Kalm T, Schob C, Voller H, Gardeitchik T, Gilissen C, Pfundt R, et al.
Am J Hum Genet
. 2024 May;
111(6):1206-1221.
PMID: 38772379
Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense...
8.
Steffens P, Weiss D, Perez A, Appel M, Weber P, Weiss C, et al.
Eur J Paediatr Neurol
. 2024 May;
51:17-23.
PMID: 38772209
Background: Spinal muscular atrophy (SMA) is a neuromuscular disease, causing progressive muscle weakness due to loss of lower motoneurons. Since 2017, three therapies, two modifying gene transcription and one adding...
9.
Zang J, Witt S, Johannsen J, Weiss D, Denecke J, Dumitrascu C, et al.
J Neuromuscul Dis
. 2024 Mar;
11(2):473-483.
PMID: 38457144
Background: The manifestation of bulbar symptoms, especially swallowing, is important for evaluating disease-modifying therapies for spinal muscular atrophy (SMA). Due to the lack of instruments, the topic is still underrepresented...
10.
Accogli A, Park Y, Lenk G, Severino M, Scala M, Denecke J, et al.
Genet Med
. 2024 Feb;
26(5):101097.
PMID: 38334070
Purpose: Pathogenic variants of FIG4 generate enlarged lysosomes and neurological and developmental disorders. To identify additional genes regulating lysosomal volume, we carried out a genome-wide activation screen to detect suppression...