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Page 1
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray JM, Beauvais P, Billette de Villemeur T, Vidailhet M, Roze E. Ewenczyk C, et al. Among authors: laugel v. Brain. 2008 Mar;131(Pt 3):760-1. doi: 10.1093/brain/awm337. Epub 2008 Jan 17. Brain. 2008. PMID: 18202104 Review.
It results in mild cyanosis and severe neurological impairment. The clinical features and long-term outcome are poorly documented, and there are no systematic reviews. ...
It results in mild cyanosis and severe neurological impairment. The clinical features and long-term outcome are poorly documented, an …
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG, Bonne G. Ben Yaou R, et al. Among authors: laugel v. Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075. eCollection 2021 Jul. Brain Commun. 2021. PMID: 34240052 Free PMC article.
The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. ...
The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of strati …
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.
Pisella LI, Fernandes S, Solé G, Stojkovic T, Tard C, Chanson JB, Bouhour F, Salort-Campana E, Beaudonnet G, Debergé L, Duval F, Grapperon AM, Masingue M, Nadaj-Pakleza A, Péréon Y, Audic F, Behin A, Friedman D, Magot A, Noury JB, Souvannanorath S, Wahbi K, Antoine JC, Bigaut K, Camdessanché JP, Cintas P, Debs R, Espil-Taris C, Kremer L, Kuntzer T, Laforêt P, Laugel V, Mallaret M, Michaud M, Nollet S, Svahn J, Vicart S, Villar-Quiles RN, Desguerre I, Adams D, Segovia-Kueny S, Merret G, Hammouda E, Molon A, Attarian S. Pisella LI, et al. Among authors: laugel v. Orphanet J Rare Dis. 2021 Oct 26;16(1):450. doi: 10.1186/s13023-021-02090-y. Orphanet J Rare Dis. 2021. PMID: 34702344 Free PMC article.
CONCLUSION: During this period, a small percentage of French NMD patients was affected by COVID-19 compared to the general French population and COVID-19 had a limited short-term effect on them. Diabetes, hypertension and a severe degree of NMD were identified as risk fact …
CONCLUSION: During this period, a small percentage of French NMD patients was affected by COVID-19 compared to the general French population …
Incidence of paediatric pneumococcal meningitis and emergence of new serotypes: a time-series analysis of a 16-year French national survey.
Ouldali N, Levy C, Varon E, Bonacorsi S, Béchet S, Cohen R, Angoulvant F; French Pediatric Meningitis Network. Ouldali N, et al. Lancet Infect Dis. 2018 Sep;18(9):983-991. doi: 10.1016/S1473-3099(18)30349-9. Epub 2018 Jul 23. Lancet Infect Dis. 2018. PMID: 30049623
BACKGROUND: Successive implementation of seven-valent then 13-valent pneumococcal conjugate vaccines (PCVs) led to a marked decrease in pneumococcal disease burden, including pneumococcal meningitis. We assessed the long-term effect of implementation of PCVs on incidence o …
BACKGROUND: Successive implementation of seven-valent then 13-valent pneumococcal conjugate vaccines (PCVs) led to a marked decrease in pneu …
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.
Schalk A, Greff G, Drouot N, Obringer C, Dollfus H, Laugel V, Chelly J, Calmels N. Schalk A, et al. Among authors: laugel v. Eur J Hum Genet. 2018 Apr;26(4):527-536. doi: 10.1038/s41431-017-0009-y. Epub 2018 Feb 8. Eur J Hum Genet. 2018. PMID: 29422660 Free PMC article.
We report here the case of two brothers from a consanguineous family presenting a severe but long-term survival phenotype of Cockayne syndrome. We identified in the patients a homozygous deep intronic nucleotide variation causing the insertion of a cryptic exon in the ERCC …
We report here the case of two brothers from a consanguineous family presenting a severe but long-term survival phenotype of Cockayne …
Daily on-line haemodiafiltration: a pilot trial in children.
Fischbach M, Terzic J, Laugel V, Dheu C, Menouer S, Helms P, Livolsi A. Fischbach M, et al. Among authors: laugel v. Nephrol Dial Transplant. 2004 Sep;19(9):2360-7. doi: 10.1093/ndt/gfh403. Epub 2004 Jul 20. Nephrol Dial Transplant. 2004. PMID: 15266034
This strategy led to a reduction in blood pressure and an improvement of left ventricular size and function, normalization of pre-dialytic plasma phosphorus and improvements in general well-being and dialysis acceptance. Long-term, however, this protocol is only acceptable …
This strategy led to a reduction in blood pressure and an improvement of left ventricular size and function, normalization of pre-dialytic p …