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Items: 1 to 50 of 205

1.

Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review.

Osman O, Labrune P, Reiner P, Sarov M, Nasser G, Riant F, Tournier-Lasserve E, Chabriat H, Denier C.

Rev Neurol (Paris). 2019 Sep 11. pii: S0035-3787(19)30549-1. doi: 10.1016/j.neurol.2019.06.006. [Epub ahead of print]

PMID:
31521395
2.

Prevalence and relevance of pre-existing anti-AAV immunity in the context of gene therapy for Crigler-Najjar syndrome.

Aronson S, Veron P, Collaud F, Hubert A, Delahais V, Honnet G, de Knegt RJ, Junge N, Baumann U, Di Giorgio A, D'Antiga L, Ginocchio VM, Brunetti-Pierri N, Labrune P, Beuers U, Bosma PJ, Mingozzi F.

Hum Gene Ther. 2019 Sep 10. doi: 10.1089/hum.2019.143. [Epub ahead of print]

PMID:
31502485
3.

Regenerative cell therapy for the treatment of hyperbilirubinemic Gunn rats with fresh and frozen human induced pluripotent stem cells-derived hepatic stem cells.

Fourrier A, Delbos F, Menoret S, Collet C, Thi Thuy LT, Myara A, Petit F, Tolosa L, Laplanche S, Gómez-Lechón MJ, Labrune P, Anegon I, Vallier L, Garnier D, Nguyen TH.

Xenotransplantation. 2019 Jul 25:e12544. doi: 10.1111/xen.12544. [Epub ahead of print]

PMID:
31342573
4.

The natural history of classic galactosemia: lessons from the GalNet registry.

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT.

Orphanet J Rare Dis. 2019 Apr 27;14(1):86. doi: 10.1186/s13023-019-1047-z.

5.

Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.

Tobaly D, Laforêt P, Perry A, Habes D, Labrune P, Decostre V, Masingue M, Petit F, Barp A, Bello L, Carlier P, Carlier RY.

Muscle Nerve. 2019 Jul;60(1):72-79. doi: 10.1002/mus.26483. Epub 2019 Apr 24.

PMID:
30972778
6.

Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients.

Biosse Duplan M, Hubert A, Le Norcy E, Louzoun A, Perry A, Chaussain C, Labrune P.

J Inherit Metab Dis. 2018 Nov;41(6):947-953. doi: 10.1007/s10545-018-0182-3. Epub 2018 Apr 16.

PMID:
29663268
7.

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM.

Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec.

8.

Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.

Decostre V, Laforêt P, De Antonio M, Kachetel K, Canal A, Ollivier G, Nadaj-Pakleza A, Petit FM, Wahbi K, Fayssoil A, Eymard B, Behin A, Labrune P, Hogrel JY.

Mol Genet Metab. 2017 Nov;122(3):108-116. doi: 10.1016/j.ymgme.2017.08.010. Epub 2017 Aug 30.

PMID:
28888851
9.

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME.

Fertil Steril. 2017 Jul;108(1):168-174. doi: 10.1016/j.fertnstert.2017.05.013. Epub 2017 Jun 1. Review.

PMID:
28579413
10.

Théâtre des disputes.

Manco C, Labrune P, Mairey A.

Rev Synth. 2016 Dec;137(3-4):479-497. doi: 10.1007/s11873-016-0310-x. French. No abstract available.

PMID:
28205092
11.

Molecular Classification of Hepatocellular Adenoma Associates With Risk Factors, Bleeding, and Malignant Transformation.

Nault JC, Couchy G, Balabaud C, Morcrette G, Caruso S, Blanc JF, Bacq Y, Calderaro J, Paradis V, Ramos J, Scoazec JY, Gnemmi V, Sturm N, Guettier C, Fabre M, Savier E, Chiche L, Labrune P, Selves J, Wendum D, Pilati C, Laurent A, De Muret A, Le Bail B, Rebouissou S, Imbeaud S; GENTHEP Investigators, Bioulac-Sage P, Letouzé E, Zucman-Rossi J.

Gastroenterology. 2017 Mar;152(4):880-894.e6. doi: 10.1053/j.gastro.2016.11.042. Epub 2016 Dec 7.

12.

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet).

J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. Review.

13.

Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III.

Decostre V, Laforêt P, Nadaj-Pakleza A, De Antonio M, Leveugle S, Ollivier G, Canal A, Kachetel K, Petit F, Eymard B, Behin A, Wahbi K, Labrune P, Hogrel JY.

Neuromuscul Disord. 2016 Sep;26(9):584-92. doi: 10.1016/j.nmd.2016.06.460. Epub 2016 Jun 28.

PMID:
27460348
14.

Progressive development of renal cysts in glycogen storage disease type I.

Gjorgjieva M, Raffin M, Duchampt A, Perry A, Stefanutti A, Brevet M, Tortereau A, Dubourg L, Hubert-Buron A, Mabille M, Pelissou C, Lassalle L, Labrune P, Mithieux G, Rajas F.

Hum Mol Genet. 2016 Sep 1;25(17):3784-3797. doi: 10.1093/hmg/ddw224. Epub 2016 Jul 19.

PMID:
27436577
15.

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforêt P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ.

J Inherit Metab Dis. 2016 Sep;39(5):697-704. doi: 10.1007/s10545-016-9932-2. Epub 2016 Apr 22.

16.

Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation.

Mayeur Le Bras A, Petit F, Benachi A, Bedel B, Oucherif S, Martinovic J, Armanet N, Tosca L, Gautier V, Parisot F, Labrune P, Tachdjian G, Brisset S.

Birth Defects Res A Clin Mol Teratol. 2016 Apr;106(4):298-303. doi: 10.1002/bdra.23457. Epub 2016 Mar 2.

PMID:
26931099
17.

Peripheral neuropathy in glycogen storage disease type III: Fact or myth?

Herlin B, Laforět P, Labrune P, Fournier E, Stojkovic T.

Muscle Nerve. 2016 Feb;53(2):310-2. doi: 10.1002/mus.24977. Epub 2015 Dec 29.

PMID:
26575860
18.

[Mild hemophilia A fortuitously discovered during Henoch-Schönlein purpura].

Joly B, d'Oiron R, Desconclois C, Bendelac L, Rafowicz A, Meyzer C, Labrune P, Veyradier A.

Arch Pediatr. 2015 Nov;22(11):1167-70. doi: 10.1016/j.arcped.2015.07.014. Epub 2015 Sep 26. French.

PMID:
26412326
19.

Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.

Armanet N, Metay C, Brisset S, Deschenes G, Pineau D, Petit FM, Di Rocco F, Goossens M, Tachdjian G, Labrune P, Tosca L.

Mol Cytogenet. 2015 Feb 1;8:8. doi: 10.1186/s13039-015-0107-x. eCollection 2015.

20.

Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.

Michon CC, Gargiulo M, Hahn-Barma V, Petit F, Nadaj-Pakleza A, Herson A, Eymard B, Labrune P, Laforet P.

J Inherit Metab Dis. 2015 May;38(3):573-80. doi: 10.1007/s10545-014-9789-1. Epub 2014 Nov 12.

PMID:
25388549
21.

Clinical predictors of radiographic abnormalities among infants with bronchiolitis in a paediatric emergency department.

Ecochard-Dugelay E, Beliah M, Perreaux F, de Laveaucoupet J, Bouyer J, Epaud R, Labrune P, Ducou-Lepointe H, Gajdos V.

BMC Pediatr. 2014 Jun 6;14:143. doi: 10.1186/1471-2431-14-143.

22.

First autochthonous familial cluster of invasive community-acquired leukocidin-positive methicillin-resistant USA300 Staphylococcus aureus in France.

Traore P, Bourgeois-Nicolaos N, Ruimy R, Laurent F, Labrune P, Doucet-Populaire F, Decousser JW.

Folia Microbiol (Praha). 2014 Nov;59(6):473-6. doi: 10.1007/s12223-014-0322-6. Epub 2014 May 24.

PMID:
24859920
23.

Impact of chest radiography for children with lower respiratory tract infection: a propensity score approach.

Ecochard-Dugelay E, Beliah M, Boisson C, Perreaux F, de Laveaucoupet J, Labrune P, Epaud R, Ducou-Lepointe H, Bouyer J, Gajdos V.

PLoS One. 2014 May 2;9(5):e96189. doi: 10.1371/journal.pone.0096189. eCollection 2014.

24.

Correction of hyperbilirubinemia in gunn rats by surgical delivery of low doses of helper-dependent adenoviral vectors.

Schmitt F, Pastore N, Abarrategui-Pontes C, Flageul M, Myara A, Laplanche S, Labrune P, Podevin G, Nguyen TH, Brunetti-Pierri N.

Hum Gene Ther Methods. 2014 Jun;25(3):181-6. doi: 10.1089/hgtb.2013.236. Epub 2014 Apr 14.

PMID:
24593043
25.

Growth development of French children born after in vitro maturation.

Foix-L'Hélias L, Grynberg M, Ducot B, Frydman N, Kerbrat V, Bouyer J, Labrune P.

PLoS One. 2014 Feb 26;9(2):e89713. doi: 10.1371/journal.pone.0089713. eCollection 2014.

26.

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23.

Brisset S, Slamova Z, Dusatkova P, Briand-Suleau A, Milcent K, Metay C, Simandlova M, Sumnik Z, Tosca L, Goossens M, Labrune P, Zemankova E, Lebl J, Tachdjian G, Sedlacek Z.

Mol Cytogenet. 2014 Feb 28;7(1):17. doi: 10.1186/1755-8166-7-17.

27.

Glycogen storage disease type 1 and diabetes: learning by comparing and contrasting the two disorders.

Rajas F, Labrune P, Mithieux G.

Diabetes Metab. 2013 Oct;39(5):377-87. doi: 10.1016/j.diabet.2013.03.002. Epub 2013 May 2. Review.

PMID:
23643353
28.

Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

Gaignard P, Gonzales E, Ackermann O, Labrune P, Correia I, Therond P, Jacquemin E, Slama A.

JIMD Rep. 2013;11:117-23. doi: 10.1007/8904_2013_230. Epub 2013 Apr 27.

29.

Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency?

Preisler N, Pradel A, Husu E, Madsen KL, Becquemin MH, Mollet A, Labrune P, Petit F, Hogrel JY, Jardel C, Maillot F, Vissing J, Laforêt P.

Mol Genet Metab. 2013 May;109(1):14-20. doi: 10.1016/j.ymgme.2013.02.008. Epub 2013 Feb 19.

PMID:
23507172
30.

[Construction and validation of an evaluation tool of sexual health using self-administered questionnaires for an application to metabolic diseases].

Petit F, Hubert-Buron A, Mollet-Boudjemline A, Sechepine A, Milcent K, Guyonnet C, Labrune P.

Prog Urol. 2013 Mar;23(3):210-8. doi: 10.1016/j.purol.2012.10.014. Epub 2012 Nov 26. French.

PMID:
23446286
31.

Successful plasmapheresis for acute and severe unconjugated hyperbilirubinemia in a child with crigler najjar type I syndrome.

Sellier AL, Labrune P, Kwon T, Boudjemline AM, Deschènes G, Gajdos V.

JIMD Rep. 2012;2:33-6. doi: 10.1007/8904_2011_40. Epub 2011 Sep 6.

32.

Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I.

Calderaro J, Labrune P, Morcrette G, Rebouissou S, Franco D, Prévot S, Quaglia A, Bedossa P, Libbrecht L, Terracciano L, Smit GP, Bioulac-Sage P, Zucman-Rossi J.

J Hepatol. 2013 Feb;58(2):350-7. doi: 10.1016/j.jhep.2012.09.030. Epub 2012 Oct 6.

PMID:
23046672
33.

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, Costa C, Labrune P, Brivet M; French Galactosemia Working Group.

Mol Genet Metab. 2012 Nov;107(3):438-47. doi: 10.1016/j.ymgme.2012.07.025. Epub 2012 Aug 6.

PMID:
22944367
34.

Are children born after infertility treatment at increased risk of retinoblastoma?

Foix-L'Hélias L, Aerts I, Marchand L, Lumbroso-Le Rouic L, Gauthier-Villars M, Labrune P, Bouyer J, Doz F, Kaminski M.

Hum Reprod. 2012 Jul;27(7):2186-92. doi: 10.1093/humrep/des149. Epub 2012 May 15.

PMID:
22587995
35.

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

Bondurand N, Fouquet V, Baral V, Lecerf L, Loundon N, Goossens M, Duriez B, Labrune P, Pingault V.

Eur J Hum Genet. 2012 Sep;20(9):990-4. doi: 10.1038/ejhg.2012.29. Epub 2012 Feb 29.

36.

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC.

Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Review.

PMID:
22095942
37.

Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet.

Valayannopoulos V, Bajolle F, Arnoux JB, Dubois S, Sannier N, Baussan C, Petit F, Labrune P, Rabier D, Ottolenghi C, Vassault A, Broissand C, Bonnet D, de Lonlay P.

Pediatr Res. 2011 Dec;70(6):638-41. doi: 10.1203/PDR.0b013e318232154f.

PMID:
21857385
38.

GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation.

Nault JC, Fabre M, Couchy G, Pilati C, Jeannot E, Tran Van Nhieu J, Saint-Paul MC, De Muret A, Redon MJ, Buffet C, Salenave S, Balabaud C, Prevot S, Labrune P, Bioulac-Sage P, Scoazec JY, Chanson P, Zucman-Rossi J.

J Hepatol. 2012 Jan;56(1):184-91. doi: 10.1016/j.jhep.2011.07.018. Epub 2011 Aug 9.

PMID:
21835143
39.

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.

Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):137-43. doi: 10.1016/j.ymgme.2011.05.010. Epub 2011 May 17.

PMID:
21646031
40.

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.

Valayannopoulos V, Michot C, Rodriguez D, Hubert L, Saillour Y, Labrune P, de Laveaucoupet J, Brunelle F, Amiel J, Lyonnet S, Enza-Razavi F, Attié-Bitach T, Lacombe D, Bahi-Buisson N, Desguerre I, Chelly J, Burglen L, Boddaert N, de Lonlay P.

Brain. 2012 Jan;135(Pt 1):e199; author reply e200. doi: 10.1093/brain/awr108. Epub 2011 May 23. No abstract available.

PMID:
21609947
41.

Glucose-6-phosphatase deficiency.

Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P.

Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Review.

42.

[What evidence for chest physiotherapy in infants hospitalized for acute viral bronchiolitis?].

Bailleux S, Lopes D, Geoffroy A, Josse N, Labrune P, Gajdos V.

Arch Pediatr. 2011 Apr;18(4):472-5. doi: 10.1016/j.arcped.2011.01.028. French.

PMID:
21392951
43.

Perioperative management of hemostasis for surgery of benign hepatic adenomas in patients with glycogen storage disease type ia.

Mollet-Boudjemline A, Hubert-Buron A, Boyer-Neumann C, Aldea R, Franco D, Trioche-Eberschweiller P, Mas AE, Mabille M, Labrune P, Gajdos V.

JIMD Rep. 2011;1:97-106. doi: 10.1007/8904_2011_23. Epub 2011 Jun 22.

44.

Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib.

Boudjemline AM, Isapof A, Witas JB, Petit FM, Gajdos V, Labrune P.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S477-80. doi: 10.1007/s10545-010-9243-y. Epub 2010 Nov 20.

PMID:
21103936
45.

[Primary paraesophageal hiatal hernia].

Cochez M, Milcent K, Isapof A, Creuzet N, Rousseau V, Labrune P, Gajdos V.

Arch Pediatr. 2011 Jan;18(1):76-8. doi: 10.1016/j.arcped.2010.09.008. French. No abstract available.

PMID:
20970969
46.

Effectiveness of chest physiotherapy in infants hospitalized with acute bronchiolitis: a multicenter, randomized, controlled trial.

Gajdos V, Katsahian S, Beydon N, Abadie V, de Pontual L, Larrar S, Epaud R, Chevallier B, Bailleux S, Mollet-Boudjemline A, Bouyer J, Chevret S, Labrune P.

PLoS Med. 2010 Sep 28;7(9):e1000345. doi: 10.1371/journal.pmed.1000345.

47.

[Type I Crigler Najjar syndrome in Tunisia: a study of 30 cases].

Aloulou H, Ben Thabet A, Khanfir S, Ben Mansour L, Chabchoub I, Labrune P, Kammoun T, Hachicha M.

Tunis Med. 2010 Oct;88(10):707-9. French.

48.

Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy.

Wary C, Nadaj-Pakleza A, Laforêt P, Claeys KG, Carlier R, Monnet A, Fleury S, Baligand C, Eymard B, Labrune P, Carlier PG.

Neuromuscul Disord. 2010 Aug;20(8):548-58. doi: 10.1016/j.nmd.2010.06.011.

PMID:
20620060
49.

Lentiviral vectors that express UGT1A1 in liver and contain miR-142 target sequences normalize hyperbilirubinemia in Gunn rats.

Schmitt F, Remy S, Dariel A, Flageul M, Pichard V, Boni S, Usal C, Myara A, Laplanche S, Anegon I, Labrune P, Podevin G, Ferry N, Nguyen TH.

Gastroenterology. 2010 Sep;139(3):999-1007, 1007.e1-2. doi: 10.1053/j.gastro.2010.05.008. Epub 2010 Jun 19.

PMID:
20546738
50.

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.

Tosca L, Brisset S, Petit FM, Lecerf L, Rousseau G, Bas C, Laroudie M, Maurin ML, Tapia S, Picone O, Prevot S, Goossens M, Labrune P, Tachdjian G.

Eur J Hum Genet. 2010 Aug;18(8):882-8. doi: 10.1038/ejhg.2010.46. Epub 2010 Apr 28.

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