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Items: 1 to 50 of 80

1.

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Faoucher M, Poulat AL, Chatron N, Labalme A, Schluth-Bolard C, Till M, Vianey-Saban C, Portes VD, Edery P, Sanlaville D, Lesca G, Acquaviva C.

Mol Genet Metab Rep. 2019 Nov 1;21:100509. doi: 10.1016/j.ymgmr.2019.100509. eCollection 2019 Dec.

PMID:
31720226
2.

Sensitive and easy screening for circulating tumor cells by flow cytometry.

Lopresti A, Malergue F, Bertucci F, Liberatoscioli ML, Garnier S, DaCosta Q, Finetti P, Gilabert M, Raoul JL, Birnbaum D, Acquaviva C, Mamessier E.

JCI Insight. 2019 Jun 13;5. pii: 128180. doi: 10.1172/jci.insight.128180.

3.

Severe transient myopathy in a patient with progressive multiple sclerosis and high-dose biotin.

Maillart E, Mochel F, Acquaviva C, Maisonobe T, Stankoff B.

Neurology. 2019 May 28;92(22):1060-1062. doi: 10.1212/WNL.0000000000007576. Epub 2019 Apr 26. No abstract available.

PMID:
31028130
4.

Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke.

Demailly D, Vianey-Saban C, Acquaviva C, Gonzalez V, Rubio IA, Cyprien F, Roujeau T, Masoliver A, Leboucq N, Coubes P, Cif L.

Mov Disord Clin Pract. 2018 Jul 19;5(4):436-438. doi: 10.1002/mdc3.12633. eCollection 2018 Jul-Aug. No abstract available.

5.

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

Kaphan E, Bou Ali H, Gastaldi M, Acquaviva C, Vianey-Saban C, Rouzier C, Fragaki K, Bannwarth S, Paquis-Flucklinger V, Romero N, Behin A, Lombès A, Jardel C, Rigal O, Laforêt P.

Rev Neurol (Paris). 2018 Dec;174(10):731-735. doi: 10.1016/j.neurol.2018.03.014. Epub 2018 Oct 11.

PMID:
30318261
6.

Inflammation-linked adaptations in dermal microvascular reactivity accompany the development of obesity and type 2 diabetes.

Nguyen-Tu MS, Nivoit P, Oréa V, Lemoine S, Acquaviva C, Pagnon-Minot A, Fromy B, Sethi JK, Sigaudo-Roussel D.

Int J Obes (Lond). 2019 Mar;43(3):556-566. doi: 10.1038/s41366-018-0148-4. Epub 2018 Jul 13.

7.

Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy.

Cabaud O, Roubin R, Comte A, Bascunana V, Sergé A, Sedjaï F, Birnbaum D, Rosnet O, Acquaviva C.

Hum Mol Genet. 2018 Oct 1;27(19):3377-3391. doi: 10.1093/hmg/ddy246.

PMID:
29982567
8.

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

Fontaine M, Kim I, Dessein AF, Mention-Mulliez K, Dobbelaere D, Douillard C, Sole G, Schiff M, Jaussaud R, Espil-Taris C, Boutron A, Wuyts W, Acquaviva C, Vianey-Saban C, Roland D, Joncquel-Chevalier Curt M, Vamecq J.

Mol Genet Metab. 2018 Apr;123(4):441-448. doi: 10.1016/j.ymgme.2018.02.005. Epub 2018 Feb 12.

PMID:
29478820
9.

Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JLK.

Genet Med. 2018 Sep;20(9):1098. doi: 10.1038/gim.2017.232.

PMID:
29300369
10.

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.

Abily-Donval L, Torre S, Samson A, Sudrié-Arnaud B, Acquaviva C, Guerrot AM, Benoist JF, Marret S, Bekri S, Tebani A.

Int J Mol Sci. 2017 Nov 1;18(11). pii: E2294. doi: 10.3390/ijms18112294.

11.

[Circulating tumor cells: a real time dive into malignant plasticity].

Lopresti A, Acquaviva C, Birnbaum D, Mamessier É.

Med Sci (Paris). 2017 May;33(5):491-493. doi: 10.1051/medsci/20173305011. Epub 2017 Jun 14. French. No abstract available.

12.

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.

Dessein AF, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, Dobbelaere D, Douillard C, Lacour A, Redonnet-Vernhet I, Lamireau D, Barth M, Minot-Myhié MC, Kuster A, de Lonlay P, Gregersen N, Acquaviva C, Vianey-Saban C, Vamecq J.

Clin Chim Acta. 2017 Aug;471:101-106. doi: 10.1016/j.cca.2017.05.026. Epub 2017 May 19.

PMID:
28532786
13.

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.

Gebus O, Montaut S, Monga B, Wirth T, Cheraud C, Alves Do Rego C, Zinchenko I, Carré G, Hamdaoui M, Hautecloque G, Nguyen-Them L, Lannes B, Chanson JB, Lagha-Boukbiza O, Fleury MC, Devys D, Nicolas G, Rudolf G, Bereau M, Mallaret M, Renaud M, Acquaviva C, Koenig M, Koob M, Kremer S, Namer IJ, Cazeneuve C, Echaniz-Laguna A, Tranchant C, Anheim M.

J Neurol. 2017 Jun;264(6):1118-1126. doi: 10.1007/s00415-017-8500-5. Epub 2017 May 6.

PMID:
28478596
14.

Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.

Lefort B, Gouache E, Acquaviva C, Tardieu M, Benoist JF, Dumas JF, Servais S, Chevalier S, Vianey-Saban C, Labarthe F.

Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1292-1299. doi: 10.1016/j.bbadis.2017.04.005. Epub 2017 Apr 6.

15.

Lactate Detection in Tumor Cell Cultures Using Organic Transistor Circuits.

Braendlein M, Pappa AM, Ferro M, Lopresti A, Acquaviva C, Mamessier E, Malliaras GG, Owens RM.

Adv Mater. 2017 Apr;29(13). doi: 10.1002/adma.201605744. Epub 2017 Jan 30.

PMID:
28134450
16.

Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.

Bouvier D, Vianey-Saban C, Ruet S, Acquaviva C.

JIMD Rep. 2017;35:71-78. doi: 10.1007/8904_2016_22. Epub 2016 Dec 10.

17.

Oleate dose-dependently regulates palmitate metabolism and insulin signaling in C2C12 myotubes.

Capel F, Cheraiti N, Acquaviva C, Hénique C, Bertrand-Michel J, Vianey-Saban C, Prip-Buus C, Morio B.

Biochim Biophys Acta. 2016 Dec;1861(12 Pt A):2000-2010. doi: 10.1016/j.bbalip.2016.10.002. Epub 2016 Oct 8.

PMID:
27725263
18.

Late diagnosis of primary hyperoxaluria type III.

Richard E, Blouin JM, Harambat J, Llanas B, Bouchet S, Acquaviva C, de la Faille R.

Ann Clin Biochem. 2017 May;54(3):406-411. doi: 10.1177/0004563216677101. Epub 2017 Jan 10.

PMID:
27742850
19.

Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Vianey-Saban C, Acquaviva C, Cheillan D, Collardeau-Frachon S, Guibaud L, Pagan C, Pettazzoni M, Piraud M, Lamazière A, Froissart R.

J Inherit Metab Dis. 2016 Sep;39(5):611-624. doi: 10.1007/s10545-016-9947-8. Epub 2016 Jul 8. Review.

PMID:
27393412
20.

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL.

Genet Med. 2017 Jan;19(1):104-111. doi: 10.1038/gim.2016.74. Epub 2016 Jun 30. Erratum in: Genet Med. 2018 Jan 04;:.

PMID:
27362913
21.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H.

Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.

22.

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.

Sala PR, Ruijter G, Acquaviva C, Chabli A, de Sain-van der Velden MG, Garcia-Villoria J, Heiner-Fokkema MR, Jeannesson-Thivisol E, Leckstrom K, Franzson L, Lynes G, Olesen J, Onkenhout W, Petrou P, Drousiotou A, Ribes A, Vianey-Saban C, Merinero B.

JIMD Rep. 2016;30:23-31. Epub 2016 Feb 23.

23.

[Sulfite oxidase activity deficiency caused by cofactor molybdenum deficiency: A case of early severe encephalopathy].

Durousset C, Gay C, Magnin S, Acquaviva C, Patural H.

Arch Pediatr. 2016 Mar;23(3):292-6. doi: 10.1016/j.arcped.2015.12.005. Epub 2016 Jan 8. French.

PMID:
26775885
24.

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

Pontoizeau C, Habarou F, Brassier A, Veauville-Merllié A, Grisel C, Arnoux JB, Vianey-Saban C, Barouki R, Chadefaux-Vekemans B, Acquaviva C, de Lonlay P, Ottolenghi C.

JIMD Rep. 2016;27:39-45. doi: 10.1007/8904_2015_481. Epub 2015 Sep 27.

25.

Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene.

Chkioua L, Khedhiri S, Grissa O, Aloui C, Turkia HB, Ferchichi S, Miled A, Froissart R, Acquaviva C, Laradi S.

Meta Gene. 2015 Jul 25;5:144-9. doi: 10.1016/j.mgene.2015.07.003. eCollection 2015 Sep.

26.

DHA at nutritional doses restores insulin sensitivity in skeletal muscle by preventing lipotoxicity and inflammation.

Capel F, Acquaviva C, Pitois E, Laillet B, Rigaudière JP, Jouve C, Pouyet C, Gladine C, Comte B, Vianey Saban C, Morio B.

J Nutr Biochem. 2015 Sep;26(9):949-59. doi: 10.1016/j.jnutbio.2015.04.003. Epub 2015 May 11.

PMID:
26007287
27.

Imeglimin normalizes glucose tolerance and insulin sensitivity and improves mitochondrial function in liver of a high-fat, high-sucrose diet mice model.

Vial G, Chauvin MA, Bendridi N, Durand A, Meugnier E, Madec AM, Bernoud-Hubac N, Pais de Barros JP, Fontaine É, Acquaviva C, Hallakou-Bozec S, Bolze S, Vidal H, Rieusset J.

Diabetes. 2015 Jun;64(6):2254-64. doi: 10.2337/db14-1220. Epub 2014 Dec 31.

28.

Clinical reasoning: A young woman with rapid mental deterioration and leukoencephalopathy: a treatable cause.

Biotti D, Esteban-Mader M, Diot E, Acquaviva C, Guffon N, Tilikete C, Benoist JF, Labauge P, Vighetto A.

Neurology. 2014 Nov 18;83(21):e182-6. doi: 10.1212/WNL.0000000000001006. No abstract available.

PMID:
25404648
29.

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

Tort F, Ferrer-Cortès X, Thió M, Navarro-Sastre A, Matalonga L, Quintana E, Bujan N, Arias A, García-Villoria J, Acquaviva C, Vianey-Saban C, Artuch R, García-Cazorla À, Briones P, Ribes A.

Hum Mol Genet. 2014 Apr 1;23(7):1907-15. doi: 10.1093/hmg/ddt585. Epub 2013 Nov 20.

PMID:
24256811
30.

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, Barbier V, Habarou F, Desguerre I, Boddaert N, Bonnefont JP, Acquaviva C, Benoist JF, Rabier D, Touati G, de Lonlay P.

Orphanet J Rare Dis. 2013 Sep 23;8:148. doi: 10.1186/1750-1172-8-148.

31.

Myomegalin is necessary for the formation of centrosomal and Golgi-derived microtubules.

Roubin R, Acquaviva C, Chevrier V, Sedjaï F, Zyss D, Birnbaum D, Rosnet O.

Biol Open. 2013 Feb 15;2(2):238-50. doi: 10.1242/bio.20123392. Epub 2012 Dec 18.

32.

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.

Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS; OxalEurope.

Nephrol Dial Transplant. 2012 May;27(5):1729-36. doi: 10.1093/ndt/gfs078.

33.

The EuroChimerism concept for a standardized approach to chimerism analysis after allogeneic stem cell transplantation.

Lion T, Watzinger F, Preuner S, Kreyenberg H, Tilanus M, de Weger R, van Loon J, de Vries L, Cavé H, Acquaviva C, Lawler M, Crampe M, Serra A, Saglio B, Colnaghi F, Biondi A, van Dongen JJ, van der Burg M, Gonzalez M, Alcoceba M, Barbany G, Hermanson M, Roosnek E, Steward C, Harvey J, Frommlet F, Bader P.

Leukemia. 2012 Aug;26(8):1821-8. doi: 10.1038/leu.2012.66. Epub 2012 Mar 7.

PMID:
22395360
34.

Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.

Echaniz-Laguna A, Chassagne M, Ceresuela J, Rouvet I, Padet S, Acquaviva C, Nataf S, Vinzio S, Bozon D, Mousson de Camaret B.

J Med Genet. 2012 Feb;49(2):146-50. doi: 10.1136/jmedgenet-2011-100504. Epub 2011 Dec 20.

PMID:
22187496
35.

Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis.

Androdias G, Vukusic S, Gignoux L, Boespflug-Tanguy O, Acquaviva C, Zabot MT, Couvert P, Carrie A, Confavreux C, Labauge P.

J Neurol. 2012 Feb;259(2):364-6. doi: 10.1007/s00415-011-6167-x. Epub 2011 Jul 19. No abstract available.

PMID:
21769531
36.

Primary hyperoxaluria.

Harambat J, Fargue S, Bacchetta J, Acquaviva C, Cochat P.

Int J Nephrol. 2011;2011:864580. doi: 10.4061/2011/864580. Epub 2011 Jun 16.

37.

Mevalonate kinase deficiency: a survey of 50 patients.

Bader-Meunier B, Florkin B, Sibilia J, Acquaviva C, Hachulla E, Grateau G, Richer O, Farber CM, Fischbach M, Hentgen V, Jego P, Laroche C, Neven B, Lequerré T, Mathian A, Pellier I, Touitou I, Rabier D, Prieur AM, Cuisset L, Quartier P; SOFREMIP (Société Francophone pour la Rhumatologie et les Maladies Inflammatoires en Pédiatrie); CRI (Club Rhumatismes et Inflammations).

Pediatrics. 2011 Jul;128(1):e152-9. doi: 10.1542/peds.2010-3639. Epub 2011 Jun 27.

PMID:
21708801
38.

Misdiagnosed postpartum psychosis revealing a late-onset urea cycle disorder.

Fassier T, Guffon N, Acquaviva C, D'Amato T, Durand DV, Domenech P.

Am J Psychiatry. 2011 Jun;168(6):576-80. doi: 10.1176/appi.ajp.2010.10071032. No abstract available.

PMID:
21642480
39.

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny HO, Guffon N, Dobbelaere D, Feillet F, Labarthe F, Lamireau D, Cano A, de Villemeur TB, Munnich A, Saudubray JM, Rabier D, Rigal O, Brivet M.

Mol Genet Metab. 2011 Aug;103(4):341-8. doi: 10.1016/j.ymgme.2011.04.006. Epub 2011 Apr 19.

PMID:
21549624
40.

Amino acid profiling for the diagnosis of inborn errors of metabolism.

Piraud M, Ruet S, Boyer S, Acquaviva C, Clerc-Renaud P, Cheillan D, Vianey-Saban C.

Methods Mol Biol. 2011;708:25-53. doi: 10.1007/978-1-61737-985-7_2.

PMID:
21207282
41.

A novel missense mutation in a neonate with nonketotic hyperglycinemia.

Meyer S, Acquaviva C, Shamdeen MG, Haas D, Vianey-Saban C.

Pediatr Neurol. 2010 Nov;43(5):363-7. doi: 10.1016/j.pediatrneurol.2010.05.025.

PMID:
20933183
42.

Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report.

Culjat M, Benjak V, Dasovic-Buljevic A, Ozretic D, Fumic K, Acquaviva C, Baric I.

J Comput Assist Tomogr. 2010 Sep-Oct;34(5):762-5. doi: 10.1097/RCT.0b013e3181e846d7.

PMID:
20861782
43.

Control of ciliogenesis by FOR20, a novel centrosome and pericentriolar satellite protein.

Sedjaï F, Acquaviva C, Chevrier V, Chauvin JP, Coppin E, Aouane A, Coulier F, Tolun A, Pierres M, Birnbaum D, Rosnet O.

J Cell Sci. 2010 Jul 15;123(Pt 14):2391-401. doi: 10.1242/jcs.065045. Epub 2010 Jun 15. Erratum in: J Cell Sci. 2010 Jul 15;123(Pt 14):2521.

44.

Myelodysplastic syndromes: lost between two states?

Acquaviva C, Gelsi-Boyer V, Birnbaum D.

Leukemia. 2010 Jan;24(1):1-5. doi: 10.1038/leu.2009.157. No abstract available.

PMID:
20068572
45.

Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.

Thümmler S, Dupont D, Acquaviva C, Fukao T, de Ricaud D.

Tohoku J Exp Med. 2010 Jan;220(1):27-31.

46.

Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.

Harambat J, Fargue S, Acquaviva C, Gagnadoux MF, Janssen F, Liutkus A, Mourani C, Macher MA, Abramowicz D, Legendre C, Durrbach A, Tsimaratos M, Nivet H, Girardin E, Schott AM, Rolland MO, Cochat P.

Kidney Int. 2010 Mar;77(5):443-9. doi: 10.1038/ki.2009.435. Epub 2009 Dec 16.

47.

[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder].

Pierron S, Giudicelli H, Moreigne M, Khalfi A, Touati G, Caruba C, Rolland MO, Acquaviva C.

Arch Pediatr. 2010 Jan;17(1):10-3. doi: 10.1016/j.arcped.2009.09.022. Epub 2009 Nov 22. French.

PMID:
19932602
48.

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G.

Hum Mutat. 2009 Jun;30(6):910-7. doi: 10.1002/humu.21021. Review.

PMID:
19479957
49.

The centrosomal FOP protein is required for cell cycle progression and survival.

Acquaviva C, Chevrier V, Chauvin JP, Fournier G, Birnbaum D, Rosnet O.

Cell Cycle. 2009 Apr 15;8(8):1217-27. Epub 2009 Apr 23.

PMID:
19305129
50.

UbcH10 has a rate-limiting role in G1 phase but might not act in the spindle checkpoint or as part of an autonomous oscillator.

Walker A, Acquaviva C, Matsusaka T, Koop L, Pines J.

J Cell Sci. 2008 Jul 15;121(Pt 14):2319-26. doi: 10.1242/jcs.031591. Epub 2008 Jun 17.

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