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>>Overview of scientific publications : Prof. Nicolas DECONINCK

Nicolas DECONINCK

1: Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.
>PubMed

2: Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Lusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernández-Torrón R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle. 2018 Jul 30;8(1):23. doi: 10.1186/s13395-018-0170-1.
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3: Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.
>PubMed

4: Baijot S, Cevallos C, Zarka D, Leroy A, Slama H, Colin C, Deconinck N, Dan B, Cheron G. EEG Dynamics of a Go/Nogo Task in Children with ADHD. Brain Sci. 2017 Dec 20;7(12). pii: E167. doi: 10.3390/brainsci7120167.
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5: Soblet J, Dimov I, Graf von Kalckreuth C, Cano-Chervel J, Baijot S, Pelc K, Sottiaux M, Vilain C, Smits G, Deconinck N. BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. Am J Med Genet A. 2018 Jan;176(1):201-208. doi: 10.1002/ajmg.a.38479. Epub 2017 Sep 27.
>PubMed

6: Reggiani C, Coppens S, Sekhara T, Dimov I, Pichon B, Lufin N, Addor MC, Belligni EF, Digilio MC, Faletra F, Ferrero GB, Gerard M, Isidor B, Joss S, Niel-Bütschi F, Perrone MD, Petit F, Renieri A, Romana S, Topa A, Vermeesch JR, Lenaerts T, Casimir G, Abramowicz M, Bontempi G, Vilain C, Deconinck N, Smits G. Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability. Genome Med. 2017 Jul 19;9(1):67. doi: 10.1186/s13073-017-0452-y.
>PubMed

7: Palmigiano A, Bua RO, Barone R, Rymen D, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Garozzo D, Jaeken J, Sturiale L. MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG. J Mass Spectrom. 2017 Jun;52(6):372-377. doi: 10.1002/jms.3936.
>PubMed

8: Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Őiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Mřller RS. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.
>PubMed

9: Verhelst H, De Waele L, Deconinck N, Ceulemans B, Willekens B, Van Coster R. Multiple sclerosis in Belgian children: A multicentre retrospective study. Eur J Paediatr Neurol. 2017 Mar;21(2):358-366. doi: 10.1016/j.ejpn.2016.10.005. Epub 2016 Oct 25.
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10: Baijot S, Slama H, Söderlund G, Dan B, Deltenre P, Colin C, Deconinck N. Neuropsychological and neurophysiological benefits from white noise in children with and without ADHD. Behav Brain Funct. 2016 Mar 15;12(1):11. doi: 10.1186/s12993-016-0095-y.
>PubMed

11: Guisset F, Ferreiro C, Voets S, Sellier J, Debaugnies F, Corazza F, Deconinck N, Prigogine C. Anti-GQ1b antibody syndrome presenting as acute isolated bilateral ophthalmoplegia: Report on two patients and review of the literature. Eur J Paediatr Neurol. 2016 May;20(3):439-43. doi: 10.1016/j.ejpn.2016.02.002. Epub 2016 Feb 18. Review.
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12: Coppens S, Koralkova P, Aeby A, Mojzikova R, Deconinck N, Kadhim H, van Wijk R. Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency. Neuromuscul Disord. 2016 Mar;26(3):207-10. doi: 10.1016/j.nmd.2015.11.008. Epub 2015 Nov 30.
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13: Kissine M, Cano-Chervel J, Carlier S, De Brabanter P, Ducenne L, Pairon MC, Deconinck N, Delvenne V, Leybaert J. Children with Autism Understand Indirect Speech Acts: Evidence from a Semi-Structured Act-Out Task. PLoS One. 2015 Nov 9;10(11):e0142191. doi: 10.1371/journal.pone.0142191. eCollection 2015.
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14: Ricotti V, Mandy WP, Scoto M, Pane M, Deconinck N, Messina S, Mercuri E, Skuse DH, Muntoni F. Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations. Dev Med Child Neurol. 2016 Jan;58(1):77-84. doi: 10.1111/dmcn.12922. Epub 2015 Sep 14.
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15: Seferian AM, Moraux A, Canal A, Decostre V, Diebate O, Le Moing AG, Gidaro T, Deconinck N, Van Parys F, Vereecke W, Wittevrongel S, Annoussamy M, Mayer M, Maincent K, Cuisset JM, Tiffreau V, Denis S, Jousten V, Quijano-Roy S, Voit T, Hogrel JY, Servais L. Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial. PLoS One. 2015 Apr 10;10(4):e0121799. doi: 10.1371/journal.pone.0121799. eCollection 2015.
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16: Seferian AM, Moraux A, Annoussamy M, Canal A, Decostre V, Diebate O, Le Moing AG, Gidaro T, Deconinck N, Van Parys F, Vereecke W, Wittevrongel S, Mayer M, Maincent K, Desguerre I, Thémar-Noël C, Cuisset JM, Tiffreau V, Denis S, Jousten V, Quijano-Roy S, Voit T, Hogrel JY, Servais L. Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial. PLoS One. 2015 Feb 2;10(2):e0113999. doi: 10.1371/journal.pone.0113999. eCollection 2015.
>PubMed

17: Deconinck N, Richard P, Allamand V, Behin A, Lafôret P, Ferreiro A, de Becdelievre A, Ledeuil C, Gartioux C, Nelson I, Carlier RY, Carlier P, Wahbi K, Romero N, Zabot MT, Bouhour F, Tiffreau V, Lacour A, Eymard B, Stojkovic T. Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. J Neurol Neurosurg Psychiatry. 2015 Dec;86(12):1337-46. doi: 10.1136/jnnp-2013-307245. Epub 2014 Dec 22.
>PubMed

18: Voit T, Topaloglu H, Straub V, Muntoni F, Deconinck N, Campion G, De Kimpe SJ, Eagle M, Guglieri M, Hood S, Liefaard L, Lourbakos A, Morgan A, Nakielny J, Quarcoo N, Ricotti V, Rolfe K, Servais L, Wardell C, Wilson R, Wright P, Kraus JE. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. Lancet Neurol. 2014 Oct;13(10):987-96. doi: 10.1016/S1474-4422(14)70195-4. Epub 2014 Sep 7.
>PubMed

19: Van Schil K, Meire F, Karlstetter M, Bauwens M, Verdin H, Coppieters F, Scheiffert E, Van Nechel C, Langmann T, Deconinck N, De Baere E. Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. Genet Med. 2015 Apr;17(4):291-9. doi: 10.1038/gim.2014.95. Epub 2014 Aug 14.
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20: Clumeck C, Suarez Garcia S, Bourguignon M, Wens V, Op de Beeck M, Marty B, Deconinck N, Soncarrieu MV, Goldman S, Jousmäki V, Van Bogaert P, De Tičge X. Preserved coupling between the reader's voice and the listener's cortical activity in autism spectrum disorders. PLoS One. 2014 Mar 24;9(3):e92329. doi: 10.1371/journal.pone.0092329. eCollection 2014.
>PubMed

21: Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9.
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22: Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, Lamandé S, Hu Y, Gualandi F, Auh S, Muntoni F, Bönnemann CG. Natural history of pulmonary function in collagen VI-related myopathies. Brain. 2013 Dec;136(Pt 12):3625-33. doi: 10.1093/brain/awt284. Epub 2013 Nov 22.
>PubMed

23: Deconinck N, Soncarrieu M, Dan B. Toward better recognition of early predictors for autism spectrum disorders. Pediatr Neurol. 2013 Oct;49(4):225-31. doi: 10.1016/j.pediatrneurol.2013.05.012. Epub 2013 Aug 6. Review.
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24: Rymen D, Keldermans L, Race V, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Sturiale L, Rosnoblet C, Foulquier F, Matthijs G, Jaeken J. COG5-CDG: expanding the clinical spectrum. Orphanet J Rare Dis. 2012 Dec 10;7:94. doi: 10.1186/1750-1172-7-94. Erratum in: Orphanet J Rare Dis. 2013;8:120.
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25: Al Keilani MA, Carlier S, Groswasser J, Dan B, Deconinck N. Rett syndrome associated with continuous spikes and waves during sleep. Acta Neurol Belg. 2011 Dec;111(4):328-32.
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26: Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R; International Standard of Care Committee for Congenital Muscular Dystrophy. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol. 2010 Dec;25(12):1559-81. doi: 10.1177/0883073810381924. Epub 2010 Nov 15. Review.
>PubMed

27: Prigogine C, Richard P, Van den Bergh P, Groswasser J, Deconinck N. Novel LMNA mutation presenting as severe congenital muscular dystrophy. Pediatr Neurol. 2010 Oct;43(4):283-6. doi: 10.1016/j.pediatrneurol.2010.05.016.
>PubMed

28: Deconinck N, Dion E, Ben Yaou R, Ferreiro A, Eymard B, Brińas L, Payan C, Voit T, Guicheney P, Richard P, Allamand V, Bonne G, Stojkovic T. Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. Neuromuscul Disord. 2010 Aug;20(8):517-23. doi: 10.1016/j.nmd.2010.04.009. Epub 2010 Jun 23.
>PubMed

29: Dachy B, Deltenre P, Deconinck N, Dan B. The H reflex as a diagnostic tool for Miller Fisher syndrome in pediatric patients. J Clin Neurosci. 2010 Mar;17(3):410-1. doi: 10.1016/j.jocn.2009.06.014. Epub 2010 Jan 13.
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30: 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. Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep. Neurology. 2008 Jul 1;71(1):64-6. doi: 10.1212/01.wnl.0000316306.08751.28.
>PubMed

31: Deconinck N, Messaaoui A, Ziereisen F, Kadhim H, Sznajer Y, Pelc K, Nassogne MC, Vanier MT, Dan B. Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency. Eur J Paediatr Neurol. 2008 Jan;12(1):46-50. Epub 2007 Jul 5.
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32: Deconinck N, Dan B. Pathophysiology of duchenne muscular dystrophy: current hypotheses. Pediatr Neurol. 2007 Jan;36(1):1-7. Review.
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33: Deconinck N, Scaillon M, Segers V, Groswasser JJ, Dan B. Opsoclonus-myoclonus associated with celiac disease. Pediatr Neurol. 2006 Apr;34(4):312-4.
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34: Pelc K, Deconinck N, Monier A, Sékhara T, Bormans J, Dan B. [A new framework for cerebral palsy]. Rev Med Brux. 2006;27 Spec No:Sp33-7. French.
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35: Deconinck N, Duprez T, des Portes V, Beldjord C, Ghariani S, Sindic CJ, Sébire G. Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects. Neuropediatrics. 2003 Jun;34(3):146-8.
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36: Deconinck N, Laterre EC, Van den Bergh PY. Adult-onset nemaline myopathy and monoclonal gammopathy: a case report. Acta Neurol Belg. 2000 Mar;100(1):34-40.
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37: Gillis JM, Deconinck N. The physiological evaluation of gene therapies of dystrophin-deficient muscles. Adv Exp Med Biol. 1998;453:411-6; discussion 417. Review.
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38: Goudemant JF, Deconinck N, Tinsley JM, Demeure R, Robert A, Davies KE, Gillis JM. Expression of truncated utrophin improves pH recovery in exercising muscles of dystrophic mdx mice: a 31P NMR study. Neuromuscul Disord. 1998 Aug;8(6):371-9.
>PubMed

39: Deconinck N, Rafael JA, Beckers-Bleukx G, Kahn D, Deconinck AE, Davies KE, Gillis JM. Consequences of the combined deficiency in dystrophin and utrophin on the mechanical properties and myosin composition of some limb and respiratory muscles of the mouse. Neuromuscul Disord. 1998 Aug;8(6):362-70.
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40: Deconinck N, Van Parijs V, Beckers-Bleukx G, Van den Bergh P. Critical illness myopathy unrelated to corticosteroids or neuromuscular blocking agents. Neuromuscul Disord. 1998 May;8(3-4):186-92.
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41: Deconinck N, Tinsley J, De Backer F, Fisher R, Kahn D, Phelps S, Davies K, Gillis JM. Expression of truncated utrophin leads to major functional improvements in dystrophin-deficient muscles of mice. Nat Med. 1997 Nov;3(11):1216-21.
>PubMed

42: Van den Bergh P, De Beukelaer M, Deconinck N. Effect of muscle denervation on the expression of substance P in the ventral raphe-spinal pathway of the rat. Brain Res. 1996 Jan 29;707(2):206-12.
>PubMed

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