Nicolas Deconinck
Overview
Explore the profile of Nicolas Deconinck including associated specialties, affiliations and a list of published articles.
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Articles
73
Citations
1925
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Recent Articles
1.
Henzi B, Putananickal N, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, et al.
Neuromuscul Disord
. 2025 Jan;
47:105275.
PMID: 39879732
Most patients with Duchenne muscular dystrophy (DMD) are non-ambulant. Preserving proximal motor function is crucial, rarely studied. Tamoxifen, a selective oestrogen receptor modulator, reduced signs of muscular pathology in a...
2.
Coppens S, Deconinck N, Sullivan P, Smolnikov A, Clayton J, Griffin K, et al.
Ann Neurol
. 2025 Jan;
97(4):611-628.
PMID: 39853809
Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum. Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and...
3.
Prigogine C, Ruiz J, Cebolla A, Deconinck N, Servais L, Gailly P, et al.
Eur J Neurosci
. 2024 Oct;
60(10):6470-6489.
PMID: 39415418
Patients with Duchenne muscular dystrophy (DMD) commonly show specific cognitive deficits in addition to a severe muscle impairment caused by the absence of dystrophin expression in skeletal muscle. These cognitive...
4.
Bensoussan F, Costa G, Blanchard A, Vaugier I, Baron S, Essid A, et al.
Arch Pediatr
. 2024 Sep;
31(7):451-454.
PMID: 39332945
Background: Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease that progresses toward restrictive respiratory failure due to muscle paralysis. We observed that SMA patients presented with a specific clinical...
5.
Akodad S, De Smedt D, Baijot S, Stevens H, Deconinck N
Heliyon
. 2024 Jul;
10(13):e33677.
PMID: 39040255
•Synthesizes evidence from 12 studies on cognitive and communicative impacts in SMA, focusing on nuanced functional outcomes.•Highlights cognitive variability in SMA1, revealing subtle challenges in SMA2 and 3, and stresses...
6.
Smeets N, Gheldof A, Dequeker B, Poleur M, Slootjes S, Van Parijs V, et al.
Pediatr Neurol
. 2024 Jul;
158:57-65.
PMID: 38964204
Background: Congenital myasthenic syndromes (CMS) are a group of genetic disorders characterized by impaired neuromuscular transmission. CMS typically present at a young age with fatigable muscle weakness, often with an...
7.
Marti Y, Ribero V, Batson S, Mitchell S, Gorni K, Gusset N, et al.
J Neuromuscul Dis
. 2024 Jun;
11(5):889-904.
PMID: 38943396
Background: Respiratory and bulbar dysfunctions (including swallowing, feeding, and speech functions) are key symptoms of spinal muscular atrophy (SMA), especially in its most severe forms. Demonstrating the long-term efficacy of...
8.
Lilien C, Vrscaj E, Thapaliya G, Deconinck N, Waele L, Duong T, et al.
J Clin Med
. 2024 Jun;
13(12).
PMID: 38929947
Patients with spinal muscular atrophy (SMA) treated with a disease-modifying therapy (DMT) are often classified as responders or non-responders based on the attainment of a specific improvement threshold on validated...
9.
Colot C, Benmechri S, Everaert E, Muys S, Van Himme L, Tahon V, et al.
J Neuromuscul Dis
. 2024 May;
11(4):839-853.
PMID: 38701158
Background: Spinal muscular atrophy (SMA), a genetic neuromuscular disease caused by lack of survival of motor neuron (SMN) protein, is characterized by muscular atrophy and respiratory and bulbar dysfunction. While...
10.
Kaiyrzhanov R, Ortigoza-Escobar J, Stringer B, Ganieva M, Gowda V, Srinivasan V, et al.
Mov Disord
. 2024 Apr;
39(6):983-995.
PMID: 38581205
Background: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3...