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Items: 1 to 50 of 200

1.

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G.

Nat Commun. 2019 Sep 3;10(1):3967. doi: 10.1038/s41467-019-11951-x.

2.

Left lateral retroperitoneoscopic total nephrectomy of a horseshoe kidney in a 3-year-old boy.

Lottmann H, Pio L, Heloury Y, Boyer O, Aigrain Y, Blanc T.

J Pediatr Urol. 2019 Aug 7. pii: S1477-5131(19)30237-2. doi: 10.1016/j.jpurol.2019.07.026. [Epub ahead of print]

PMID:
31477414
3.

Modifications of the Transcriptomic Profile of Autoreactive B Cells From Pemphigus Patients After Treatment With Rituximab or a Standard Corticosteroid Regimen.

Hébert V, Petit M, Maho-Vaillant M, Golinski ML, Riou G, Derambure C, Boyer O, Joly P, Calbo S.

Front Immunol. 2019 Aug 7;10:1794. doi: 10.3389/fimmu.2019.01794. eCollection 2019.

4.

HLA-Class II Artificial Antigen Presenting Cells in CD4+ T Cell-Based Immunotherapy.

Couture A, Garnier A, Docagne F, Boyer O, Vivien D, Le-Mauff B, Latouche JB, Toutirais O.

Front Immunol. 2019 May 17;10:1081. doi: 10.3389/fimmu.2019.01081. eCollection 2019. Review.

5.

The IgG2 Isotype of Anti-Transcription Intermediary Factor 1γ Autoantibodies Is a Biomarker of Cancer and Mortality in Adult Dermatomyositis.

Aussy A, Fréret M, Gallay L, Bessis D, Vincent T, Jullien D, Drouot L, Jouen F, Joly P, Marie I, Meyer A, Sibilia J, Bader-Meunier B, Hachulla E, Hamidou M, Huë S, Charuel JL, Fabien N, Viailly PJ, Allenbach Y, Benveniste O, Cordel N, Boyer O; OncoMyositis Study Group.

Arthritis Rheumatol. 2019 Aug;71(8):1360-1370. doi: 10.1002/art.40895. Epub 2019 Jul 8.

PMID:
30896088
6.

Systemic administration of orexin A ameliorates established experimental autoimmune encephalomyelitis by diminishing neuroinflammation.

Becquet L, Abad C, Leclercq M, Miel C, Jean L, Riou G, Couvineau A, Boyer O, Tan YV.

J Neuroinflammation. 2019 Mar 20;16(1):64. doi: 10.1186/s12974-019-1447-y.

7.

Influenza vaccination among children with idiopathic nephrotic syndrome: an investigation of practices.

Klifa R, Toubiana J, Michel A, Biebuyck N, Charbit M, Heidet L, Krid S, Krug P, Salomon R, Boyer O.

BMC Nephrol. 2019 Feb 25;20(1):65. doi: 10.1186/s12882-019-1240-2.

8.

Steroid therapy in children with IgA nephropathy.

Cambier A, Boyer O, Deschenes G, Gleeson J, Couderc A, Hogan J, Robert T.

Pediatr Nephrol. 2019 Feb 18. doi: 10.1007/s00467-018-4189-7. [Epub ahead of print] Review.

PMID:
30778826
9.

Treatment and long-term outcome in primary distal renal tubular acidosis.

Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D; European dRTA Consortium , Kleta R, Schaefer F, Bockenhauer D.

Nephrol Dial Transplant. 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409.

PMID:
30773598
10.

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

Dorval G, Kuzmuk V, Gribouval O, Welsh GI, Bierzynska A, Schmitt A, Miserey-Lenkei S, Koziell A, Haq S, Benmerah A, Mollet G, Boyer O, Saleem MA, Antignac C.

Am J Hum Genet. 2019 Feb 7;104(2):348-355. doi: 10.1016/j.ajhg.2018.12.016. Epub 2019 Jan 17.

11.

Myositis-specific autoantibodies, a cornerstone in immune-mediated necrotizing myopathy.

Anquetil C, Boyer O, Wesner N, Benveniste O, Allenbach Y.

Autoimmun Rev. 2019 Mar;18(3):223-230. doi: 10.1016/j.autrev.2018.09.008. Epub 2019 Jan 11. Review.

PMID:
30639649
12.

Five-year outcome of children with idiopathic nephrotic syndrome: the NEPHROVIR population-based cohort study.

Dossier C, Delbet JD, Boyer O, Daoud P, Mesples B, Pellegrino B, See H, Benoist G, Chace A, Larakeb A, Hogan J, Deschênes G.

Pediatr Nephrol. 2019 Apr;34(4):671-678. doi: 10.1007/s00467-018-4149-2. Epub 2018 Dec 14.

PMID:
30552564
13.

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, de Villemeur TB, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M.

PLoS Genet. 2018 Oct 26;14(10):e1007748. doi: 10.1371/journal.pgen.1007748. eCollection 2018 Oct.

14.

Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults.

Gribouval O, Boyer O, Hummel A, Dantal J, Martinez F, Sberro-Soussan R, Etienne I, Chauveau D, Delahousse M, Lionet A, Allard J, Pouteil Noble C, Tête MJ, Heidet L, Antignac C, Servais A.

Kidney Int. 2018 Nov;94(5):1013-1022. doi: 10.1016/j.kint.2018.07.024.

PMID:
30348286
15.

In vivo pathogenicity of IgG from patients with anti-SRP or anti-HMGCR autoantibodies in immune-mediated necrotising myopathy.

Bergua C, Chiavelli H, Allenbach Y, Arouche-Delaperche L, Arnoult C, Bourdenet G, Jean L, Zoubairi R, Guerout N, Mahler M, Benveniste O, Drouot L, Boyer O.

Ann Rheum Dis. 2019 Jan;78(1):131-139. doi: 10.1136/annrheumdis-2018-213518. Epub 2018 Oct 11.

PMID:
30309969
16.

Diagnostic potential of sarcoplasmic myxovirus resistance protein A expression in subsets of dermatomyositis.

Uruha A, Allenbach Y, Charuel JL, Musset L, Aussy A, Boyer O, Mariampillai K, Landon-Cardinal O, Rasmussen C, Bolko L, Maisonobe T, Leonard-Louis S, Suzuki S, Nishino I, Stenzel W, Benveniste O.

Neuropathol Appl Neurobiol. 2019 Aug;45(5):513-522. doi: 10.1111/nan.12519. Epub 2018 Nov 22.

PMID:
30267437
17.

AMPK Activation of PGC-1α/NRF-1-Dependent SELENOT Gene Transcription Promotes PACAP-Induced Neuroendocrine Cell Differentiation Through Tolerance to Oxidative Stress.

Abid H, Cartier D, Hamieh A, François-Bellan AM, Bucharles C, Pothion H, Manecka DL, Leprince J, Adriouch S, Boyer O, Anouar Y, Lihrmann I.

Mol Neurobiol. 2019 Jun;56(6):4086-4101. doi: 10.1007/s12035-018-1352-x. Epub 2018 Sep 28.

PMID:
30267375
18.

Pharmacokinetics of Enoxaparin After Renal Transplantation in Pediatric Patients.

Damamme A, Urien S, Borgel D, Lasne D, Krug P, Krid S, Charbit M, Salomon R, Treluyer JM, Boyer O.

J Clin Pharmacol. 2018 Dec;58(12):1597-1603. doi: 10.1002/jcph.1289. Epub 2018 Sep 26.

PMID:
30256422
19.

Reversible cerebral vasoconstriction syndrome in paediatric patients with systemic lupus erythematosus: implications for management.

Durrleman C, Naggara O, Grevent D, Belot A, Desgranges M, Boyer O, Chabrier S, Bader-Meunier B, Kossorotoff M.

Dev Med Child Neurol. 2019 Jun;61(6):725-729. doi: 10.1111/dmcn.14031. Epub 2018 Sep 23.

PMID:
30246466
20.

APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries.

Gribouval O, Boyer O, Knebelmann B, Karras A, Dantal J, Fourrage C, Alibeu O, Hogan J, Dossier C, Tête MJ, Antignac C, Servais A.

Nephrol Dial Transplant. 2018 Jul 9. doi: 10.1093/ndt/gfy176. [Epub ahead of print]

PMID:
29992269
21.

Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis.

Landon-Cardinal O, Friedman D, Guiguet M, Laforêt P, Heming N, Salort-Campana E, Jouen F, Allenbach Y, Boyer O, Chatenoud L, Eymard B, Sharshar T, Benveniste O.

J Neuromuscul Dis. 2018;5(2):241-249. doi: 10.3233/JND-180300.

PMID:
29865089
22.

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, Billette de Villemeur T, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M.

PLoS Genet. 2018 May 16;14(5):e1007386. doi: 10.1371/journal.pgen.1007386. eCollection 2018 May. Erratum in: PLoS Genet. 2018 Oct 26;14(10):e1007748.

23.

Influence of Pre-existing Anti-capsid Neutralizing and Binding Antibodies on AAV Vector Transduction.

Fitzpatrick Z, Leborgne C, Barbon E, Masat E, Ronzitti G, van Wittenberghe L, Vignaud A, Collaud F, Charles S, Simon Sola M, Jouen F, Boyer O, Mingozzi F.

Mol Ther Methods Clin Dev. 2018 Feb 13;9:119-129. doi: 10.1016/j.omtm.2018.02.003. eCollection 2018 Jun 15.

24.

Renal failure in pediatric Castleman disease: Four French cases with thrombotic microangiopathy.

Cousin E, Flodrops H, Boyer O, Hogan J, Ruin M, Couderc A, Goujon JM, Taque S.

Pediatr Blood Cancer. 2018 Jul;65(7):e27045. doi: 10.1002/pbc.27045. Epub 2018 Mar 30.

PMID:
29603588
25.

Prevalence and long-term monitoring of humoral immunity against adeno-associated virus in Duchenne Muscular Dystrophy patients.

Leborgne C, Latournerie V, Boutin S, Desgue D, Quéré A, Pignot E, Collaud F, Charles S, Simon Sola M, Masat E, Jouen F, Boyer O, Masurier C, Mingozzi F, Veron P.

Cell Immunol. 2019 Aug;342:103780. doi: 10.1016/j.cellimm.2018.03.004. Epub 2018 Mar 16.

PMID:
29571923
26.

Treatment and outcome of congenital nephrotic syndrome.

Bérody S, Heidet L, Gribouval O, Harambat J, Niaudet P, Baudouin V, Bacchetta J, Boudaillez B, Dehennault M, de Parscau L, Dunand O, Flodrops H, Fila M, Garnier A, Louillet F, Macher MA, May A, Merieau E, Monceaux F, Pietrement C, Rousset-Rouvière C, Roussey G, Taque S, Tenenbaum J, Ulinski T, Vieux R, Zaloszyc A, Morinière V, Salomon R, Boyer O.

Nephrol Dial Transplant. 2019 Mar 1;34(3):458-467. doi: 10.1093/ndt/gfy015.

PMID:
29474669
27.

Synergistic promoting effects of pentoxifylline and simvastatin on the apoptosis of triple-negative MDA-MB-231 breast cancer cells.

Castellanos-Esparza YC, Wu S, Huang L, Buquet C, Shen R, Sanchez-Gonzalez B, García Latorre EA, Boyer O, Varin R, Jiménez-Zamudio LA, Janin A, Vannier JP, Li H, Lu H.

Int J Oncol. 2018 Apr;52(4):1246-1254. doi: 10.3892/ijo.2018.4272. Epub 2018 Feb 9.

PMID:
29436616
28.

Necrosis in anti-SRP+ and anti-HMGCR+myopathies: Role of autoantibodies and complement.

Allenbach Y, Arouche-Delaperche L, Preusse C, Radbruch H, Butler-Browne G, Champtiaux N, Mariampillai K, Rigolet A, Hufnagl P, Zerbe N, Amelin D, Maisonobe T, Louis-Leonard S, Duyckaerts C, Eymard B, Goebel HH, Bergua C, Drouot L, Boyer O, Benveniste O, Stenzel W.

Neurology. 2018 Feb 6;90(6):e507-e517. doi: 10.1212/WNL.0000000000004923. Epub 2018 Jan 12.

PMID:
29330311
29.

Enhanced liver gene transfer and evasion of preexisting humoral immunity with exosome-enveloped AAV vectors.

Meliani A, Boisgerault F, Fitzpatrick Z, Marmier S, Leborgne C, Collaud F, Simon Sola M, Charles S, Ronzitti G, Vignaud A, van Wittenberghe L, Marolleau B, Jouen F, Tan S, Boyer O, Christophe O, Brisson AR, Maguire CA, Mingozzi F.

Blood Adv. 2017 Oct 16;1(23):2019-2031. doi: 10.1182/bloodadvances.2017010181. eCollection 2017 Oct 24.

30.

Value of magnetic resonance imaging for evaluating muscle inflammation: insights from a new mouse model of myositis.

Bourdenet G, Dubourg B, Nicol L, Mulder P, Martinet J, Allenbach Y, Boitard C, Boyer O.

Neuropathol Appl Neurobiol. 2018 Aug;44(5):537-540. doi: 10.1111/nan.12457. No abstract available.

PMID:
29231968
31.

[Idiopathic nephrotic syndrome].

Boyer O, Baudouin V, Bérard E, Dossier C, Audard V, Guigonis V, Vrillon I.

Arch Pediatr. 2017 Dec;24(12):1338-1343. doi: 10.1016/j.arcped.2017.09.022. Epub 2017 Nov 21. French.

PMID:
29169714
32.

[Treatments of steroid-dependent nephrotic syndrome in children].

Couderc A, Bérard E, Guigonis V, Vrillon I, Hogan J, Audard V, Baudouin V, Dossier C, Boyer O.

Arch Pediatr. 2017 Dec;24(12):1312-1320. doi: 10.1016/j.arcped.2017.09.002. Epub 2017 Nov 13. Review. French.

PMID:
29146214
33.

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.

Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O.

Pediatr Nephrol. 2018 Mar;33(3):473-483. doi: 10.1007/s00467-017-3819-9. Epub 2017 Oct 23.

PMID:
29058154
34.

Immunoadsorption in Anti-GBM Glomerulonephritis: Case Report in a Child and Literature Review.

Dorval G, Lion M, Guérin S, Krid S, Galmiche-Rolland L, Salomon R, Boyer O.

Pediatrics. 2017 Nov;140(5). pii: e20161733. doi: 10.1542/peds.2016-1733. Review.

35.

[Antiglomerular basement disease in children: Literature review and therapeutic options].

Dorval G, Guérin S, Berteloot L, Krid S, Salomon R, Galmiche-Rolland L, Boyer O.

Arch Pediatr. 2017 Oct;24(10):1019-1028. doi: 10.1016/j.arcped.2017.07.013. Epub 2017 Sep 18. Review. French.

PMID:
28927772
36.

Dermatomyositis and Immune-Mediated Necrotizing Myopathies: A Window on Autoimmunity and Cancer.

Aussy A, Boyer O, Cordel N.

Front Immunol. 2017 Aug 21;8:992. doi: 10.3389/fimmu.2017.00992. eCollection 2017. Review.

37.

Hereditary Podocytopathies in Adults: The Next Generation.

Boyer O, Dorval G, Servais A.

Kidney Dis (Basel). 2017 Jul;3(2):50-56. doi: 10.1159/000477243. Epub 2017 May 31. Review.

38.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.

39.

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepańska M, Bieniaś B, Drożdż D, Odeh R, Jarmużek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F; PodoNet Consortium.

PLoS One. 2017 Aug 10;12(8):e0180926. doi: 10.1371/journal.pone.0180926. eCollection 2017.

40.

IFN-β-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis.

Meyer A, Laverny G, Allenbach Y, Grelet E, Ueberschlag V, Echaniz-Laguna A, Lannes B, Alsaleh G, Charles AL, Singh F, Zoll J, Lonsdorfer E, Maurier F, Boyer O, Gottenberg JE, Nicot AS, Laporte J, Benveniste O, Metzger D, Sibilia J, Geny B.

Acta Neuropathol. 2017 Oct;134(4):655-666. doi: 10.1007/s00401-017-1731-9. Epub 2017 Jun 16.

PMID:
28623559
41.

Neuron-to-Neuron Transfer of FUS in Drosophila Primary Neuronal Culture Is Enhanced by ALS-Associated Mutations.

Feuillette S, Delarue M, Riou G, Gaffuri AL, Wu J, Lenkei Z, Boyer O, Frébourg T, Campion D, Lecourtois M.

J Mol Neurosci. 2017 May;62(1):114-122. doi: 10.1007/s12031-017-0908-y. Epub 2017 Apr 20.

PMID:
28429234
42.

Autologous Myoblasts for the Treatment of Fecal Incontinence: Results of a Phase 2 Randomized Placebo-controlled Study (MIAS).

Boyer O, Bridoux V, Giverne C, Bisson A, Koning E, Leroi AM, Chambon P, Déhayes J, Le Corre S, Jacquot S, Bastit D, Martinet J, Houivet E, Tuech JJ, Benichou J, Michot F; the Study Group of Myoblast Therapy for Faecal Incontinence.

Ann Surg. 2018 Mar;267(3):443-450. doi: 10.1097/SLA.0000000000002268.

43.

The Spontaneous Autoimmune Neuromyopathy in ICOSL-/- NOD Mice Is CD4+ T-Cell and Interferon-γ Dependent.

Briet C, Bourdenet G, Rogner UC, Becourt C, Tardivel I, Drouot L, Arnoult C, do Rego JC, Prevot N, Massaad C, Boyer O, Boitard C.

Front Immunol. 2017 Mar 31;8:287. doi: 10.3389/fimmu.2017.00287. eCollection 2017.

44.

Early and Late Factors Impacting Patient and Graft Outcome in Pediatric Liver Transplantation: Summary of an ESPGHAN Monothematic Conference.

McLin VA, Allen U, Boyer O, Bucuvalas J, Colledan M, Cuturi MC, d'Antiga L, Debray D, Dezsofi A, Goyet JV, Dhawan A, Durmaz O, Falk C, Feng S, Fischler B, Franchi-Abella S, Frauca E, Ganschow R, Gottschalk S, Hadzic N, Hierro L, Horslen S, Hubscher S, Karam V, Kelly D, Maecker-Kolhoff B, Mazariegos G, McKiernan P, Melk A, Nobili V, Ozgenç F, Reding R, Sciveres M, Sharif K, Socha P, Toso C, Vajro P, Verma A, Wildhaber BE, Baumann U.

J Pediatr Gastroenterol Nutr. 2017 Sep;65(3):e53-e59. doi: 10.1097/MPG.0000000000001564.

PMID:
28319600
45.

Pathogenic role of anti-signal recognition protein and anti-3-Hydroxy-3-methylglutaryl-CoA reductase antibodies in necrotizing myopathies: Myofiber atrophy and impairment of muscle regeneration in necrotizing autoimmune myopathies.

Arouche-Delaperche L, Allenbach Y, Amelin D, Preusse C, Mouly V, Mauhin W, Tchoupou GD, Drouot L, Boyer O, Stenzel W, Butler-Browne G, Benveniste O.

Ann Neurol. 2017 Apr;81(4):538-548. doi: 10.1002/ana.24902.

PMID:
28224701
46.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F.

J Clin Invest. 2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6.

47.

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

Estève E, Krug P, Hummel A, Arnoux JB, Boyer O, Brassier A, de Lonlay P, Vuiblet V, Gobin S, Salomon R, Piètrement C, Bonnefont JP, Servais A, Galmiche L.

Hum Pathol. 2017 Apr;62:160-169. doi: 10.1016/j.humpath.2016.12.021. Epub 2017 Jan 11.

PMID:
28087478
48.

A role for intestinal TLR4-driven inflammatory response during activity-based anorexia.

Belmonte L, Achamrah N, Nobis S, Guérin C, Riou G, Bôle-Feysot C, Boyer O, Richard V, Rego JC, Déchelotte P, Goichon A, Coëffier M.

Sci Rep. 2016 Oct 25;6:35813. doi: 10.1038/srep35813.

49.

Epidemiology of idiopathic nephrotic syndrome in children: endemic or epidemic?

Dossier C, Lapidus N, Bayer F, Sellier-Leclerc AL, Boyer O, de Pontual L, May A, Nathanson S, Orzechowski C, Simon T, Carrat F, Deschênes G.

Pediatr Nephrol. 2016 Dec;31(12):2299-2308. Epub 2016 Oct 24.

PMID:
27778092
50.

Loss of immune tolerance to IL-2 in type 1 diabetes.

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