Deconinck N - Search Results

1

Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep.

Coutelier M, Andries S, Ghariani S, Dan B, Duyckaerts C, van Rijckevorsel K, Raftopoulos C, Deconinck N, Sonderegger P, Scaravilli F, Vikkula M, Godfraind C. Coutelier M, et al. Among authors: deconinck n. Neurology. 2008 Jul 1;71(1):64-6. doi: 10.1212/01.wnl.0000316306.08751.28. Neurology. 2008. PMID: 18591508 No abstract available.

2

A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology.

Kadhim H, El-Howayek E, Coppens S, Duff J, Topf A, Kaleeta JP, Simoni P, Boitsios G, Remiche G, Straub V, Vilain C, Deconinck N. Kadhim H, et al. Among authors: deconinck n. Neuromuscul Disord. 2023 May;33(5):410-416. doi: 10.1016/j.nmd.2023.03.007. Epub 2023 Mar 22. Neuromuscul Disord. 2023. PMID: 37037050

3

Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium.

Dangouloff T, Thokala P, Stevenson MD, Deconinck N, D'Amico A, Daron A, Delstanche S, Servais L, Hiligsmann M. Dangouloff T, et al. Among authors: deconinck n. Neuromuscul Disord. 2024 Jan;34:61-67. doi: 10.1016/j.nmd.2023.11.013. Epub 2023 Dec 2. Neuromuscul Disord. 2024. PMID: 38150893 Free article.

4

Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping.

Mercuri E, Seferian AM, Servais L, Deconinck N, Stevenson H, Ni X, Zhang W, East L, Yonren S, Muntoni F; 4658-102 Study Group. Mercuri E, et al. Among authors: deconinck n. Neuromuscul Disord. 2023 Jun;33(6):476-483. doi: 10.1016/j.nmd.2023.03.008. Epub 2023 Mar 24. Neuromuscul Disord. 2023. PMID: 37207382 Free article.

5

Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach.

Colot C, Benmechri S, Everaert E, Muys S, Van Himme L, Tahon V, Salmon M, Van Dyck D, De Vos E, Deconinck N. Colot C, et al. Among authors: deconinck n. J Neuromuscul Dis. 2024;11(4):839-853. doi: 10.3233/JND-240017. J Neuromuscul Dis. 2024. PMID: 38701158 Free PMC article.

6

Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects.

Deconinck N, Duprez T, des Portes V, Beldjord C, Ghariani S, Sindic CJ, Sébire G. Deconinck N, et al. Neuropediatrics. 2003 Jun;34(3):146-8. doi: 10.1055/s-2003-41271. Neuropediatrics. 2003. PMID: 12910438

7

Opsoclonus-myoclonus associated with celiac disease.

Deconinck N, Scaillon M, Segers V, Groswasser JJ, Dan B. Deconinck N, et al. Pediatr Neurol. 2006 Apr;34(4):312-4. doi: 10.1016/j.pediatrneurol.2005.08.034. Pediatr Neurol. 2006. PMID: 16638509

8

Pathophysiology of duchenne muscular dystrophy: current hypotheses.

Deconinck N, Dan B. Deconinck N, et al. Pediatr Neurol. 2007 Jan;36(1):1-7. doi: 10.1016/j.pediatrneurol.2006.09.016. Pediatr Neurol. 2007. PMID: 17162189 Review.

9

Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.

Deconinck N, Messaaoui A, Ziereisen F, Kadhim H, Sznajer Y, Pelc K, Nassogne MC, Vanier MT, Dan B. Deconinck N, et al. Eur J Paediatr Neurol. 2008 Jan;12(1):46-50. doi: 10.1016/j.ejpn.2007.05.004. Epub 2007 Jul 5. Eur J Paediatr Neurol. 2008. PMID: 17616409

10

The H reflex as a diagnostic tool for Miller Fisher syndrome in pediatric patients.

Dachy B, Deltenre P, Deconinck N, Dan B. Dachy B, et al. Among authors: deconinck n. J Clin Neurosci. 2010 Mar;17(3):410-1. doi: 10.1016/j.jocn.2009.06.014. Epub 2010 Jan 13. J Clin Neurosci. 2010. PMID: 20071180

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