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Items: 1 to 50 of 55

1.

Towards quantitative imaging biomarkers of tumor dissemination: A multi-scale parametric modeling of multiple myeloma.

Piraud M, Wennmann M, Kintzelé L, Hillengass J, Keller U, Langs G, Weber MA, Menze BH.

Med Image Anal. 2019 Oct;57:214-225. doi: 10.1016/j.media.2019.07.001. Epub 2019 Jul 4.

PMID:
31349146
2.

Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.

Cousyn L, Law-Ye B, Pyatigorskaya N, Debs R, Froissart R, Piraud M, Federico A, Salvatore S, Cerase A, Macário MC, Durães J, Kim SH, Adachi H, Audoin B, Ayrignac X, Da Y, Henderson R, La Piana R, Laule C, Nakamagoe K, Raininko R, Schols L, Sirrs SM, Viader F, Jastrzębski K, Leclercq D, Nadjar Y.

Neurology. 2019 Aug 13;93(7):e647-e652. doi: 10.1212/WNL.0000000000007943. Epub 2019 Jul 23.

PMID:
31337714
3.

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

Echaniz-Laguna A, Nadjar Y, Béhin A, Biancalana V, Piraud M, Malfatti E, Laforêt P.

J Inherit Metab Dis. 2019 Sep;42(5):803-808. doi: 10.1002/jimd.12087. Epub 2019 Apr 8.

PMID:
30887539
4.

Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics.

Tebani A, Abily-Donval L, Schmitz-Afonso I, Piraud M, Ausseil J, Zerimech F, Pilon C, Pereira T, Marret S, Afonso C, Bekri S.

Int J Mol Sci. 2019 Jan 21;20(2). pii: E446. doi: 10.3390/ijms20020446.

5.

Knowledge-Aided Convolutional Neural Network for Small Organ Segmentation.

Zhao Y, Li H, Wan S, Sekuboyina A, Hu X, Tetteh G, Piraud M, Menze B.

IEEE J Biomed Health Inform. 2019 Jul;23(4):1363-1373. doi: 10.1109/JBHI.2019.2891526. Epub 2019 Jan 9.

PMID:
30629519
6.

Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis.

Tebani A, Abily-Donval L, Schmitz-Afonso I, Héron B, Piraud M, Ausseil J, Zerimech F, Gonzalez B, Marret S, Afonso C, Bekri S.

J Transl Med. 2018 Sep 4;16(1):248. doi: 10.1186/s12967-018-1625-1.

7.

Volumetry based biomarker speed of growth: Quantifying the change of total tumor volume in whole-body magnetic resonance imaging over time improves risk stratification of smoldering multiple myeloma patients.

Wennmann M, Kintzelé L, Piraud M, Menze BH, Hielscher T, Hofmanninger J, Wagner B, Kauczor HU, Merz M, Hillengass J, Langs G, Weber MA.

Oncotarget. 2018 May 18;9(38):25254-25264. doi: 10.18632/oncotarget.25402. eCollection 2018 May 18.

8.

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

Piraud M, Pettazzoni M, Lavoie P, Ruet S, Pagan C, Cheillan D, Latour P, Vianey-Saban C, Auray-Blais C, Froissart R.

J Inherit Metab Dis. 2018 May;41(3):457-477. doi: 10.1007/s10545-017-0126-3. Epub 2018 Mar 19. Review.

PMID:
29556840
9.

Automated Whole-Body Bone Lesion Detection for Multiple Myeloma on 68Ga-Pentixafor PET/CT Imaging Using Deep Learning Methods.

Xu L, Tetteh G, Lipkova J, Zhao Y, Li H, Christ P, Piraud M, Buck A, Shi K, Menze BH.

Contrast Media Mol Imaging. 2018 Jan 8;2018:2391925. doi: 10.1155/2018/2391925. eCollection 2018.

10.

Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling.

Tebani A, Schmitz-Afonso I, Abily-Donval L, Héron B, Piraud M, Ausseil J, Brassier A, De Lonlay P, Zerimech F, Vaz FM, Gonzalez BJ, Marret S, Afonso C, Bekri S.

Clin Chim Acta. 2017 Dec;475:7-14. doi: 10.1016/j.cca.2017.09.024. Epub 2017 Oct 2.

11.

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D.

PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017.

12.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Piraud M, Pettazzoni M, Menegaut L, Caillaud C, Nadjar Y, Vianey-Saban C, Froissart R.

Rapid Commun Mass Spectrom. 2017 Jun 15;31(11):951-963. doi: 10.1002/rcm.7860.

PMID:
28370531
13.

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
14.

Spontaneous Increase of Magnetic Flux and Chiral-Current Reversal in Bosonic Ladders: Swimming against the Tide.

Greschner S, Piraud M, Heidrich-Meisner F, McCulloch IP, Schollwöck U, Vekua T.

Phys Rev Lett. 2015 Nov 6;115(19):190402. doi: 10.1103/PhysRevLett.115.190402. Epub 2015 Nov 4.

PMID:
26588363
15.

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

Mamoune A, Bahuau M, Hamel Y, Serre V, Pelosi M, Habarou F, Nguyen Morel MA, Boisson B, Vergnaud S, Viou MT, Nonnenmacher L, Piraud M, Nusbaum P, Vamecq J, Romero N, Ottolenghi C, Casanova JL, de Lonlay P.

PLoS Genet. 2014 Nov 13;10(11):e1004711. doi: 10.1371/journal.pgen.1004711. eCollection 2014 Nov.

16.

Paraneoplastic dermatomyositis with glycogen accumulation in muscle.

Lagueny A, Martin-Negrier ML, Bredin A, Berge-Lefranc JL, Piraud M, Vital A.

Rev Neurol (Paris). 2014 Mar;170(3):229-30. doi: 10.1016/j.neurol.2013.09.009. Epub 2014 Mar 6. No abstract available.

PMID:
24613475
17.

Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.

Bonesso L, Piraud M, Caruba C, Van Obberghen E, Mengual R, Hinault C.

Orphanet J Rare Dis. 2014 Feb 6;9:19. doi: 10.1186/1750-1172-9-19.

18.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T.

N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605.

19.

Severe axial myopathy in McArdle disease.

Witting N, Duno M, Piraud M, Vissing J.

JAMA Neurol. 2014 Jan;71(1):88-90. doi: 10.1001/jamaneurol.2013.3209.

PMID:
24216972
20.

[Exercise-induced muscle pain due to phosphofrutokinase deficiency: Diagnostic contribution of metabolic explorations (exercise tests, 31P-nuclear magnetic resonance spectroscopy)].

Drouet A, Zagnoli F, Fassier T, Rannou F, Baverel F, Piraud M, Bahuau M, Petit F, Streichenberger N, Marcorelles P, Vital Durand D.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):613-24. doi: 10.1016/j.neurol.2013.02.006. Epub 2013 Sep 4. French.

PMID:
24011984
21.

Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency.

Preisler N, Laforêt P, Echaniz-Laguna A, Ørngreen MC, Lonsdorfer-Wolf E, Doutreleau S, Geny B, Stojkovic T, Piraud M, Petit FM, Vissing J.

J Clin Endocrinol Metab. 2013 Jul;98(7):E1235-40. doi: 10.1210/jc.2013-1651. Epub 2013 Jun 18.

PMID:
23780368
22.

Acute but transient neurological deterioration revealing adult polyglucosan body disease.

Billot S, Hervé D, Akman HO, Froissart R, Baussan C, Claeys KG, Piraud M, Sedel F, Mochel F, Laforêt P.

J Neurol Sci. 2013 Jan 15;324(1-2):179-82. doi: 10.1016/j.jns.2012.10.015. Epub 2012 Nov 10.

PMID:
23146612
23.

[Prenatal symptoms and diagnosis of inherited metabolic diseases].

Brassier A, Ottolenghi C, Boddaert N, Sonigo P, Attié-Bitach T, Millischer-Bellaiche AE, Baujat G, Cormier-Daire V, Valayannopoulos V, Seta N, Piraud M, Chadefaux-Vekemans B, Vianey-Saban C, Froissart R, de Lonlay P.

Arch Pediatr. 2012 Sep;19(9):959-69. doi: 10.1016/j.arcped.2012.06.002. Epub 2012 Aug 9. French.

PMID:
22884749
24.

Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice.

Piguet F, Sondhi D, Piraud M, Fouquet F, Hackett NR, Ahouansou O, Vanier MT, Bieche I, Aubourg P, Crystal RG, Cartier N, Sevin C.

Hum Gene Ther. 2012 Aug;23(8):903-14. doi: 10.1089/hum.2012.015. Epub 2012 Jul 23.

25.

Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency.

Malfatti E, Birouk N, Romero NB, Piraud M, Petit FM, Hogrel JY, Laforêt P.

J Neurol Sci. 2012 May 15;316(1-2):173-7. doi: 10.1016/j.jns.2012.01.027. Epub 2012 Feb 23.

PMID:
22364848
26.

TNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism.

De Larichaudy J, Zufferli A, Serra F, Isidori AM, Naro F, Dessalle K, Desgeorges M, Piraud M, Cheillan D, Vidal H, Lefai E, Némoz G.

Skelet Muscle. 2012 Jan 18;2(1):2. doi: 10.1186/2044-5040-2-2.

27.

Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.

Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, Kishnani PS, Millington DS, Bashir MR, Bali DS.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):50-8. doi: 10.1002/ajmg.c.31320. Epub 2012 Jan 17.

PMID:
22252961
28.

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23. Review.

PMID:
21831684
29.

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
30.

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

van den Bosch J, Oemardien LF, Srebniak MI, Piraud M, Huijmans JG, Verheijen FW, Ruijter GJ.

J Inherit Metab Dis. 2011 Oct;34(5):1069-73. doi: 10.1007/s10545-011-9351-3. Epub 2011 May 27.

31.

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.

32.

Cerebral changes occurring in arginase and dimethylarginine dimethylaminohydrolase (DDAH) in a rat model of sleeping sickness.

Amrouni D, Meiller A, Gautier-Sauvigné S, Piraud M, Bouteille B, Vincendeau P, Buguet A, Cespuglio R.

PLoS One. 2011 Mar 9;6(3):e16891. doi: 10.1371/journal.pone.0016891.

33.

[Contribution of genotyping in Fabry's disease].

Froissart R, Piraud M, Maire I.

Rev Med Interne. 2010 Dec;31 Suppl 2:S275-8. doi: 10.1016/S0248-8663(10)70027-8. French.

PMID:
21211679
34.

[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease].

Piraud M, Maire I, Froissart R.

Rev Med Interne. 2010 Dec;31 Suppl 2:S270-4. doi: 10.1016/S0248-8663(10)70026-6. French.

PMID:
21211678
35.

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
36.

Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes.

Ellinwood NM, Ausseil J, Desmaris N, Bigou S, Liu S, Jens JK, Snella EM, Mohammed EE, Thomson CB, Raoul S, Joussemet B, Roux F, Chérel Y, Lajat Y, Piraud M, Benchaouir R, Hermening S, Petry H, Froissart R, Tardieu M, Ciron C, Moullier P, Parkes J, Kline KL, Maire I, Vanier MT, Heard JM, Colle MA.

Mol Ther. 2011 Feb;19(2):251-9. doi: 10.1038/mt.2010.265. Epub 2010 Dec 7.

37.

Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.

Claeys KG, Pellissier JF, Garcia-Bragado F, Weis J, Urtizberea A, Poza JJ, Cobo AM, Stoltenburg G, Figarella-Branger D, Willems PJ, Depuydt CE, Kleiner W, Pouget J, Piraud M, Brochier G, Romero NB, Fardeau M, Goebel HH, Bönnemann CG, Voit T, Eymard B, Laforêt P.

Neuromuscul Disord. 2010 Nov;20(11):701-8. doi: 10.1016/j.nmd.2010.06.006. Epub 2010 Jul 15.

PMID:
20637616
38.

Glycan profiling of urine, amniotic fluid and ascitic fluid from galactosialidosis patients reveals novel oligosaccharides with reducing end hexose and aldohexonic acid residues.

Bruggink C, Poorthuis BJ, Piraud M, Froissart R, Deelder AM, Wuhrer M.

FEBS J. 2010 Jul;277(14):2970-86. doi: 10.1111/j.1742-4658.2010.07707.x. Epub 2010 Jun 10.

39.

Muscle glycogenosis due to phosphoglucomutase 1 deficiency.

Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G, Claeys KG, Wary C, Hogrel JY, Laforêt P.

N Engl J Med. 2009 Jul 23;361(4):425-7. doi: 10.1056/NEJMc0901158. No abstract available.

PMID:
19625727
40.

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Pompe Disease Diagnostic Working Group, Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J.

Mol Genet Metab. 2008 Mar;93(3):275-81. Epub 2007 Dec 19.

PMID:
18078773
41.
43.

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

Froissart R, Cheillan D, Bouvier R, Tourret S, Bonnet V, Piraud M, Maire I.

J Med Genet. 2005 Nov;42(11):829-36. Epub 2005 Apr 1.

44.

Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.

Ramsay SL, Maire I, Bindloss C, Fuller M, Whitfield PD, Piraud M, Hopwood JJ, Meikle PJ.

Mol Genet Metab. 2004 Nov;83(3):231-8.

PMID:
15542394
45.

Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry.

Cognat S, Cheillan D, Piraud M, Roos B, Jakobs C, Vianey-Saban C.

Clin Chem. 2004 Aug;50(8):1459-61. No abstract available.

46.
47.

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

Telvi L, Ion A, Carel JC, Desguerre I, Piraud M, Boutin AM, Feingold J, Ponsot G, Fellous M, McElreavey K.

J Med Genet. 1996 Sep;33(9):767-71.

48.

Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis).

Piraud M, Froissart R, Mandon G, Bernard A, Maire I.

Clin Chim Acta. 1996 Apr 30;248(2):143-55.

PMID:
8740579
49.
50.

Pitfalls of screening for mucopolysaccharidoses by the dimethylmethylene blue test.

Piraud M, Maire I, Mathieu M.

Clin Chem. 1993 Jan;39(1):163-4. No abstract available.

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