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Items: 16

1.

Pediatric combined liver-kidney transplantation: a 2015 update.

Bacchetta J, Mekahli D, Rivet C, Demède D, Leclerc AL.

Curr Opin Organ Transplant. 2015 Oct;20(5):543-9. doi: 10.1097/MOT.0000000000000225. Review.

PMID:
26270957
2.

Renal function can be impaired in children with primary hyperoxaluria type 3.

Allard L, Cochat P, Leclerc AL, Cachat F, Fichtner C, De Souza VC, Garcia CD, Camoin-Schweitzer MC, Macher MA, Acquaviva-Bourdain C, Bacchetta J.

Pediatr Nephrol. 2015 Oct;30(10):1807-13. doi: 10.1007/s00467-015-3090-x. Epub 2015 May 14.

PMID:
25972204
3.

Fludrocortisone as a new tool for managing tubulopathy after pediatric renal transplantation: a series of cases.

Bacchetta J, Basmaison O, Leclerc AL, Bertholet-Thomas A, Cochat P, Ranchin B.

Pediatr Nephrol. 2014 Oct;29(10):2061-4. doi: 10.1007/s00467-014-2842-3. Epub 2014 Jun 9.

PMID:
24908322
4.

[Online hemodiafiltration in children and hypoparathyroidism: a single-centre series of cases].

Pérouse de Montclos T, Ranchin B, Leclerc AL, Bertholet-Thomas A, Belot A, Cochat P, Bacchetta J.

Nephrol Ther. 2014 Feb;10(1):35-8. doi: 10.1016/j.nephro.2013.09.003. Epub 2013 Dec 18. French.

PMID:
24360980
5.

[Hypocalcemia and bone deformations].

Roland-Gosselin B, Basmaison O, Ranchin B, Leclerc AL, Tourab-Bouchair N, Cochat P, Bacchetta J.

Arch Pediatr. 2013 Jul;20(7):787-8, 800-2. doi: 10.1016/j.arcped.2013.04.006. Epub 2013 May 27. French. No abstract available.

PMID:
23721993
6.

Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq.

van Blitterswijk M, Wang ET, Friedman BA, Keagle PJ, Lowe P, Leclerc AL, van den Berg LH, Housman DE, Veldink JH, Landers JE.

PLoS One. 2013;8(4):e60788. doi: 10.1371/journal.pone.0060788. Epub 2013 Apr 8.

7.

[Pediatric seizures and end-stage renal disease].

Roland-Gosselin B, Ranchin B, Leclerc AL, Dijoud F, Belot A, Demède D, Raux S, Cochat P, Bacchetta J.

Arch Pediatr. 2013 Apr;20(4):372-4. doi: 10.1016/j.arcped.2013.01.013. Epub 2013 Feb 28. French.

PMID:
23453718
8.

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.

Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH Jr, Landers JE.

Nature. 2012 Aug 23;488(7412):499-503. doi: 10.1038/nature11280.

9.

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.

Ramos EM, Keagle P, Gillis T, Lowe P, Mysore JS, Leclerc AL, Ratti A, Ticozzi N, Gellera C, Gusella JF, Silani V, Alonso I, Brown RH Jr, MacDonald ME, Landers JE.

Amyotroph Lateral Scler. 2012 May;13(3):265-9. doi: 10.3109/17482968.2011.653573. Epub 2012 Mar 13.

PMID:
22409360
10.

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.

van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe PP, Hu GF, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, Van Damme P, Lemmens R, Dahlberg C, Birve A, Fernández-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EA, Cuppen E, Berg D, Brown RH Jr, Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PI, Landers JE, van de Warrenburg BP, van den Berg LH.

Ann Neurol. 2011 Dec;70(6):964-73. doi: 10.1002/ana.22611. Review.

11.

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.

Ticozzi N, Vance C, Leclerc AL, Keagle P, Glass JD, McKenna-Yasek D, Sapp PC, Silani V, Bosco DA, Shaw CE, Brown RH Jr, Landers JE.

Am J Med Genet B Neuropsychiatr Genet. 2011 Apr;156B(3):285-90. doi: 10.1002/ajmg.b.31158. Epub 2011 Jan 13.

PMID:
21438137
12.

Paraoxonase gene mutations in amyotrophic lateral sclerosis.

Ticozzi N, LeClerc AL, Keagle PJ, Glass JD, Wills AM, van Blitterswijk M, Bosco DA, Rodriguez-Leyva I, Gellera C, Ratti A, Taroni F, McKenna-Yasek D, Sapp PC, Silani V, Furlong CE, Brown RH Jr, Landers JE.

Ann Neurol. 2010 Jul;68(1):102-7. doi: 10.1002/ana.21993.

13.

Mutational analysis of TARDBP in neurodegenerative diseases.

Ticozzi N, LeClerc AL, van Blitterswijk M, Keagle P, McKenna-Yasek DM, Sapp PC, Silani V, Wills AM, Brown RH Jr, Landers JE.

Neurobiol Aging. 2011 Nov;32(11):2096-9. doi: 10.1016/j.neurobiolaging.2009.11.018. Epub 2009 Dec 23.

14.

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort.

Ticozzi N, Silani V, LeClerc AL, Keagle P, Gellera C, Ratti A, Taroni F, Kwiatkowski TJ Jr, McKenna-Yasek DM, Sapp PC, Brown RH Jr, Landers JE.

Neurology. 2009 Oct 13;73(15):1180-5. doi: 10.1212/WNL.0b013e3181bbff05. Epub 2009 Sep 9.

15.

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr.

Science. 2009 Feb 27;323(5918):1205-8. doi: 10.1126/science.1166066.

16.

New VAPB deletion variant and exclusion of VAPB mutations in familial ALS.

Landers JE, Leclerc AL, Shi L, Virkud A, Cho T, Maxwell MM, Henry AF, Polak M, Glass JD, Kwiatkowski TJ, Al-Chalabi A, Shaw CE, Leigh PN, Rodriguez-Leyza I, McKenna-Yasek D, Sapp PC, Brown RH Jr.

Neurology. 2008 Apr 1;70(14):1179-85. doi: 10.1212/01.wnl.0000289760.85237.4e. Epub 2008 Mar 5.

PMID:
18322265

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