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Items: 1 to 20 of 27

1.

Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.

Scalais E, Connerotte AC, Despontin K, Biver A, Ceuterick-de Groote C, Alders M, Kolivras A, Hachem JP, De Meirleir L.

Am J Med Genet A. 2016 Apr 29. doi: 10.1002/ajmg.a.37673. [Epub ahead of print]

PMID:
27127007
2.

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.

Scalais E, Bottu J, Wanders RJ, Ferdinandusse S, Waterham HR, De Meirleir L.

Am J Med Genet A. 2015 Jan;167A(1):211-4. doi: 10.1002/ajmg.a.36803. Epub 2014 Oct 22.

PMID:
25338548
3.

Early electro-clinical features may contribute to diagnosis of the anti-NMDA receptor encephalitis in children.

Gitiaux C, Simonnet H, Eisermann M, Leunen D, Dulac O, Nabbout R, Chevignard M, Honnorat J, Gataullina S, Musset L, Scalais E, Gauthier A, Hully M, Boddaert N, Kuchenbuch M, Desguerre I, Kaminska A.

Clin Neurophysiol. 2013 Dec;124(12):2354-61. doi: 10.1016/j.clinph.2013.05.023. Epub 2013 Jul 2. Erratum in: Clin Neurophysiol. 2014 Jun;125(6):1288.

PMID:
23830005
4.

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).

Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers C, Smet J, De Meirleir L.

Eur J Paediatr Neurol. 2013 Nov;17(6):625-30. doi: 10.1016/j.ejpn.2013.05.013. Epub 2013 Jun 28.

PMID:
23816342
5.

Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.

Drewniak A, Gazendam RP, Tool AT, van Houdt M, Jansen MH, van Hamme JL, van Leeuwen EM, Roos D, Scalais E, de Beaufort C, Janssen H, van den Berg TK, Kuijpers TW.

Blood. 2013 Mar 28;121(13):2385-92. doi: 10.1182/blood-2012-08-450551. Epub 2013 Jan 18.

6.

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.

Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ.

J Biol Chem. 2012 Aug 17;287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14.

7.

Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin JJ, Van Coster R, Seneca S, Roels F, Van Goethem G, Löfgren A, De Meirleir L.

Eur J Paediatr Neurol. 2012 Sep;16(5):542-8. doi: 10.1016/j.ejpn.2012.01.013. Epub 2012 Feb 17.

PMID:
22342071
8.

Paroxysmal EEG pattern in a child with N-methyl-D-aspartate receptor antibody encephalitis.

Gataullina S, Plouin P, Vincent A, Scalais E, Nuttin C, Dulac O.

Dev Med Child Neurol. 2011 Aug;53(8):764-7. doi: 10.1111/j.1469-8749.2011.03956.x. Epub 2011 May 19.

9.

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.

Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS.

Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Review.

PMID:
20052767
10.

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K.

J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573. Epub 2009 Oct 14.

PMID:
19833603
11.

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.

Roels F, Verloo P, Eyskens F, François B, Seneca S, De Paepe B, Martin JJ, Meersschaut V, Praet M, Scalais E, Espeel M, Smet J, Van Goethem G, Van Coster R.

BMC Clin Pathol. 2009 Jun 5;9:4. doi: 10.1186/1472-6890-9-4.

12.

L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.

Steenweg ME, Salomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI, Ruiz-Falco ML, Mejaski-Bosnjak V, Augoustides-Savvopoulou P, Wajner M, Walter J, Verhoeven-Duif NM, Struys EA, Jakobs C, van der Knaap MS.

Radiology. 2009 Jun;251(3):856-65. doi: 10.1148/radiol.2513080647.

PMID:
19474378
13.

Infantile presentation of the mitochondrial A8344G mutation.

Scalais E, Nuttin C, Seneca S, Smet J, De Paepe B, Martin JJ, Stevens R, Pierart F, Battisti O, Lissens W, De Meirleir L, Van Coster R.

Eur J Neurol. 2007 Nov;14(11):e3-5. No abstract available.

PMID:
17956438
14.

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects.

de Paepe B, Smet J, Leroy JG, Seneca S, George E, Matthys D, van Maldergem L, Scalais E, Lissens W, de Meirleir L, Meulemans A, van Coster R.

Pediatr Res. 2006 Jan;59(1):2-6. Epub 2005 Dec 2.

PMID:
16327006
15.

Efficacy of high dose steroid therapy in children with severe acute transverse myelitis.

Defresne P, Meyer L, Tardieu M, Scalais E, Nuttin C, De Bont B, Loftus G, Landrieu P, Kadhim H, Sébire G.

J Neurol Neurosurg Psychiatry. 2001 Aug;71(2):272-4.

16.

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA.

Nat Genet. 1999 Nov;23(3):333-7.

PMID:
10545952
17.

Perisylvian dysgenesis. Clinical, EEG, MRI and glucose metabolism features in 10 patients.

Van Bogaert P, David P, Gillain CA, Wikler D, Damhaut P, Scalais E, Nuttin C, Wetzburger C, Szliwowski HB, Metens T, Goldman S.

Brain. 1998 Dec;121 ( Pt 12):2229-38.

18.

Adaptation in neonatology of the once-daily concept of aminoglycoside administration: evaluation of a dosing chart for amikacin in an intensive care unit.

Langhendries JP, Battisti O, Bertrand JM, François A, Kalenga M, Darimont J, Scalais E, Wallemacq P.

Biol Neonate. 1998 Nov;74(5):351-62.

PMID:
9742264
19.

Multimodality evoked potentials as a prognostic tool in term asphyxiated newborns.

Scalais E, François-Adant A, Nuttin C, Bachy A, Guérit JM.

Electroencephalogr Clin Neurophysiol. 1998 Mar;108(2):199-207.

PMID:
9566633
20.

[Diagnostic and prognostic value of evoked potentials facing cerebral hypoxia in newborn infants].

Scalais E, François A, Nuttin C.

Arch Pediatr. 1996;3 Suppl 1:251s-253s. French. No abstract available.

PMID:
8796033
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