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Items: 43

1.

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Boot E, Butcher NJ, Udow S, Marras C, Mok KY, Kaneko S, Barrett MJ, Prontera P, Berman BD, Masellis M, Dufournet B, Nguyen K, Charles P, Mutez E, Danaila T, Jacquette A, Colin O, Drapier S, Borg M, Fiksinski AM, Vergaelen E, Swillen A, Vogels A, Plate A, Perandones C, Gasser T, Clerinx K, Bourdain F, Mills K, Williams NM, Wood NW, Booij J, Lang AE, Bassett AS; International Research Group on 22q11.2DS-associated Parkinson's Disease.

Neurology. 2018 May 11. pii: 10.1212/WNL.0000000000005660. doi: 10.1212/WNL.0000000000005660. [Epub ahead of print]

PMID:
29752303
2.

Erratum: Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry.

Cornejo-Olivas M, Torres L, Velit-Salazar MR, Inca-Martinez M, Mazzetti P, Cosentino C, Micheli F, Perandones C, Dieguez E, Raggio V, Tumas V, Borges V, Ferraz HB, Rieder CRM, Shumacher-Schuh A, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Chang-Castello J, Andreé-Munoz B, Waldherr S, Yearout D, Zabetian CP, Mata IF.

NPJ Parkinsons Dis. 2018 Jan 19;4:3. doi: 10.1038/s41531-017-0025-1. eCollection 2018.

3.

Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry.

Cornejo-Olivas M, Torres L, Velit-Salazar MR, Inca-Martinez M, Mazzetti P, Cosentino C, Micheli F, Perandones C, Dieguez E, Raggio V, Tumas V, Borges V, Ferraz HB, Rieder CRM, Shumacher-Schuh A, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Chang-Castello J, Andreé-Munoz B, Waldherr S, Yearout D, Zabetian CP, Mata IF.

NPJ Parkinsons Dis. 2017 Jun 2;3:19. doi: 10.1038/s41531-017-0020-6. eCollection 2017. Erratum in: NPJ Parkinsons Dis. 2018 Jan 19;4:3.

4.

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Tenorio J, Romanelli V, Martin-Trujillo A, Fernández GM, Segovia M, Perandones C, Pérez Jurado LA, Esteller M, Fraga M, Arias P, Gordo G, Dapía I, Mena R, Palomares M, Pérez de Nanclares G, Nevado J, García-Miñaur S, Santos-Simarro F, Martinez-Glez V, Vallespín E; SOGRI Consortium, Monk D, Lapunzina P.

Am J Med Genet A. 2016 Oct;170(10):2740-9. doi: 10.1002/ajmg.a.37852. Epub 2016 Aug 2.

PMID:
27480579
5.

Similarities between Takayasu arteritis and giant cell arteritis.

Antoniol MN, Perandones CE.

Reumatol Clin. 2017 Mar - Apr;13(2):122. doi: 10.1016/j.reuma.2016.05.004. Epub 2016 Jun 24. English, Spanish. No abstract available.

6.

Genetic aspects of Huntington's disease in Latin America. A systematic review.

Castilhos RM, Augustin MC, Santos JA, Perandones C, Saraiva-Pereira ML, Jardim LB; Rede Neurogenética.

Clin Genet. 2016 Mar;89(3):295-303. doi: 10.1111/cge.12641. Epub 2015 Aug 13. Review.

PMID:
26178794
7.

Letter to the Editor: Hypothesis: Somatic Mosaicism and Parkinson Disease.

Perandones C, Pellene LA, Giugni JC, Calvo DS, Raina GB, Cuevas SM, Mata IF, Zabetian CP, Caputo M, Corach D, Micheli FE, Radrizzani M.

Exp Neurobiol. 2015 Jun;24(2):173-5. doi: 10.5607/en.2015.24.2.173. Epub 2015 Apr 24. No abstract available.

8.

Successful GPi stimulation in genetic Parkinson's disease caused by mosaicism of alpha-synuclein gene duplication: first description.

Perandones C, Aráoz Olivos N, Raina GB, Pellene LA, Giugni JC, Calvo DS, Radrizzani M, Piedimonte F, Micheli FE.

J Neurol. 2015 Jan;262(1):222-3. doi: 10.1007/s00415-014-7576-4. Epub 2014 Nov 20. No abstract available.

PMID:
25408368
9.

Mosaicism of alpha-synuclein gene rearrangements: report of two unrelated cases of early-onset parkinsonism.

Perandones C, Giugni JC, Calvo DS, Raina GB, De Jorge Lopez L, Volpini V, Zabetian CP, Mata IF, Caputo M, Corach D, Radrizzani M, Micheli FE.

Parkinsonism Relat Disord. 2014 May;20(5):558-61. doi: 10.1016/j.parkreldis.2013.11.014. Epub 2013 Nov 27. No abstract available.

10.

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

Perandones C, Pellene LA, Micheli F.

Mov Disord. 2014 Jan;29(1):158-9. doi: 10.1002/mds.25738. Epub 2013 Dec 11. No abstract available.

PMID:
24339182
11.

Analysis of D216H polymorphism in Argentinean patients with primary dystonia.

Caputo M, Irisarri M, Perandones C, Alechine E, Pellene LA, Roca CU, Micheli FE, Corach D.

J Neurogenet. 2013 Jun;27(1-2):16-8. doi: 10.3109/01677063.2012.761697. Epub 2013 Feb 13.

PMID:
23405979
12.

Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations.

Sánchez E, Rasmussen A, Riba L, Acevedo-Vasquez E, Kelly JA, Langefeld CD, Williams AH, Ziegler JT, Comeau ME, Marion MC, García-De La Torre I, Maradiaga-Ceceña MA, Cardiel MH, Esquivel-Valerio JA, Rodriguez-Amado J, Moctezuma JF, Miranda P, Perandones CE, Castel C, Laborde HA, Alba P, Musuruana JL, Goecke IA, Anaya JM, Kaufman KM, Adler A, Glenn SB, Brown EE, Alarcón GS, Kimberly RP, Edberg JC, Vilá LM, Criswell LA, Gilkeson GS, Niewold TB, Martín J, Vyse TJ, Boackle SA, Ramsey-Goldman R, Scofield RH, Petri M, Merrill JT, Reveille JD, Tsao BP, Orozco L, Baca V, Moser KL, Gaffney PM, James JA, Harley JB, Tusié-Luna T, Pons-Estel BA, Jacob CO, Alarcón-Riquelme ME.

Arthritis Rheum. 2012 Nov;64(11):3687-94. doi: 10.1002/art.34650.

13.

A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2.

Perandones C, Micheli FE, Pellene LA, Bayly MA, Berkovic SF, Dibbens LM.

Mov Disord. 2012 Aug;27(9):1200-1. doi: 10.1002/mds.25083. Epub 2012 Jul 5. No abstract available.

PMID:
22767442
14.

Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America.

Mata IF, Wilhoite GJ, Yearout D, Bacon JA, Cornejo-Olivas M, Mazzetti P, Marca V, Ortega O, Acosta O, Cosentino C, Torres L, Medina AC, Perez-Pastene C, Díaz-Grez F, Vilariño-Güell C, Venegas P, Miranda M, Trujillo-Godoy O, Layson L, Avello R, Dieguez E, Raggio V, Micheli F, Perandones C, Alvarez V, Segura-Aguilar J, Farrer MJ, Zabetian CP, Ross OA.

Parkinsonism Relat Disord. 2011 Sep;17(8):629-31. doi: 10.1016/j.parkreldis.2011.05.003. Epub 2011 May 31.

15.

Different conformations of phosphatase and tensin homolog, deleted on chromosome 10 (PTEN) protein within the nucleus and cytoplasm of neurons.

Moncalero VL, Costanzo RV, Perandones C, Radrizzani M.

PLoS One. 2011 Apr 29;6(4):e18857. doi: 10.1371/journal.pone.0018857.

16.

Polyarticular palindromic syndrome due to lues infection.

Otaola M, Perandones CE, Arana RM.

J Clin Rheumatol. 2010 Dec;16(8):395-6. doi: 10.1097/RHU.0b013e31820023c9. No abstract available.

PMID:
21085012
17.

Alpha-synuclein immunoreactivity in minor salivary gland biopsies of Parkinson's disease patients.

Cersósimo MG, Perandones C, Micheli FE, Raina GB, Beron AM, Nasswetter G, Radrizzani M, Benarroch EE.

Mov Disord. 2011 Jan;26(1):188-90. doi: 10.1002/mds.23344. Epub 2010 Sep 10. No abstract available.

PMID:
20836135
18.

Characteristics of pulmonary tuberculosis in a hyperendemic area: the city of Santos, Brasil.

Coelho AG, Zamarioli LA, Perandones CA, Cuntiere I, Waldman EA.

J Bras Pneumol. 2009 Oct;35(10):998-1007. English, Portuguese.

19.

Myocarditis as a form of relapse in two patients with adult Still's disease.

Cavallasca JA, Vigliano CA, Perandones CE, Tate GA.

Rheumatol Int. 2010 Jun;30(8):1095-7. doi: 10.1007/s00296-009-1031-3. Epub 2009 Jul 5.

PMID:
19579028
20.

Amerindian ancestry in Argentina is associated with increased risk for systemic lupus erythematosus.

Seldin MF, Qi L, Scherbarth HR, Tian C, Ransom M, Silva G, Belmont JW, Gamron S, Allievi A, Palatnik SA, Saurit V, Paira S, Graf C, Guillerón C, Catoggio LJ, Prigione C, Berbotto GA, García MA, Perandones CE, Truedsson L, Abderrahim H, Battagliotti CG, Pons-Estel BA, Alarcon-Riquelme ME.

Genes Immun. 2008 Jun;9(4):389-93. doi: 10.1038/gene.2008.25. Epub 2008 Apr 10.

PMID:
18401351
21.

Argentine population genetic structure: large variance in Amerindian contribution.

Seldin MF, Tian C, Shigeta R, Scherbarth HR, Silva G, Belmont JW, Kittles R, Gamron S, Allevi A, Palatnik SA, Alvarellos A, Paira S, Caprarulo C, Guillerón C, Catoggio LJ, Prigione C, Berbotto GA, García MA, Perandones CE, Pons-Estel BA, Alarcon-Riquelme ME.

Am J Phys Anthropol. 2007 Mar;132(3):455-62.

22.

No evidence of association between genetic variants of the PDCD1 ligands and SLE.

Abelson AK, Johansson CM, Kozyrev SV, Kristjansdottir H, Gunnarsson I, Svenungsson E, Jönsen A, Lima G, Scherbarth HR, Gamron S, Allievi A, Palatnik SA, Alvarellos A, Paira S, Graf C, Guillerón C, Catoggio LJ, Prigione C, Battagliotti CG, Berbotto GA, García MA, Perandones CE, Truedsson L, Steinsson K, Sturfelt G, Pons-Estel B; Argentinean Collaborative Group, Alarcón-Riquelme ME.

Genes Immun. 2007 Jan;8(1):69-74. Epub 2006 Nov 30.

PMID:
17136123
23.

Design, development and evaluation of a competitive RT-PCR for quantitation of GBV-C RNA.

Ruiz V, Espínola L, Mathet VL, Perandones CE, Oubiña JR.

J Virol Methods. 2006 Sep;136(1-2):58-64. Epub 2006 May 23.

PMID:
16716411
24.

Anp32e/Cpd1 regulates protein phosphatase 2A activity at synapses during synaptogenesis.

Costanzo RV, Vilá-Ortíz GJ, Perandones C, Carminatti H, Matilla A, Radrizzani M.

Eur J Neurosci. 2006 Jan;23(2):309-24.

PMID:
16420440
25.

Uses and limitations of two molecular cytogenetic techniques for the study of arrested embryos obtained through assisted reproduction technology.

Muhlmann MC, Laudicina AO, Perandones C, Bertolino MV, Marazzi A, Quintans CJ, Donaldson M, Bozzo W, Pasqualini S.

Genet Mol Res. 2005 Jun 30;4(2):143-51.

26.

Family environment of individuals with oral clefts in Argentina.

Wyszynski DF, Perandones C, Yannibelli P, Bennun RD.

Cleft Palate Craniofac J. 2005 Mar;42(2):185-91.

PMID:
15748110
27.

Parvovirus B19: another agent associated with remitting seronegative symmetrical synovitis with pitting edema.

Perandones CE, Colmegna I, Arana RM.

J Rheumatol. 2005 Feb;32(2):389-90.

PMID:
15693107
28.

Correlation between synaptogenesis and the PTEN phosphatase expression in dendrites during postnatal brain development.

Perandones C, Costanzo RV, Kowaljow V, Pivetta OH, Carminatti H, Radrizzani M.

Brain Res Mol Brain Res. 2004 Sep 10;128(1):8-19.

PMID:
15337313
29.

Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus.

Johansson CM, Zunec R, García MA, Scherbarth HR, Tate GA, Paira S, Navarro SM, Perandones CE, Gamron S, Alvarellos A, Graf CE, Manni J, Berbotto GA, Palatnik SA, Catoggio LJ, Battagliotti CG, Sebastiani GD, Migliaresi S, Galeazzi M, Pons-Estel BA, Alarcón-Riquelme ME; Collaborative Group on the Genetics of SLE; Argentine Collaborative Group.

Hum Genet. 2004 Aug;115(3):230-8. Epub 2004 Jul 1.

PMID:
15232734
30.

Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2.

Zeiger JS, Hetmanski JB, Beaty TH, VanderKolk CA, Wyszynski DF, Bailey-Wilson JE, de Luna RO, Perandones C, Tolarova MM, Mosby T, Bennun R, Segovia M, Calda P, Pugh EW, Doheny K, McIntosh I.

Eur J Hum Genet. 2003 Nov;11(11):835-9.

31.
32.

Differential expression of CPD1 during postnatal development in the mouse cerebellum.

Radrizzani M, Vilá-Ortiz G, Cafferata EG, Di Tella MC, González-Guerrico A, Perandones C, Pivetta OH, Carminatti H, Idoyaga Vargas VP, Santa-Coloma TA.

Brain Res. 2001 Jul 13;907(1-2):162-74.

PMID:
11430900
33.

Borjeson-Forssman-Lehmann syndrome and dilated cardiomyopathy: a previously unreported association.

Kaplinsky E, Perandones C, Galiana MG, Fideleff H, Favaloro RR, Carlos V, Perrone SV.

Can J Cardiol. 2001 Jan;17(1):80-3.

PMID:
11173318
34.

Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation.

Jorge R, Mangone C, Castano E, Perandones C, Rogaeva E, St George-Hyslop P, El Hachimi KH, Foncin JF, Robinson RG, Bruni AC.

J Neuropsychiatry Clin Neurosci. 2000 Summer;12(3):359-63.

PMID:
10956569
35.

Minocycline induced lupus and autoimmune hepatitis.

Colmegna I, Perandones CE, Chaves JG.

J Rheumatol. 2000 Jun;27(6):1567-8. No abstract available.

PMID:
10852297
36.

Nonsurgical correction of nasal deformity in unilateral complete cleft lip: a 6-year follow-up.

Bennun RD, Perandones C, Sepliarsky VA, Chantiri SN, Aguirre MI, Dogliotti PL.

Plast Reconstr Surg. 1999 Sep;104(3):616-30.

PMID:
10456510
37.

Reference intervals for biochemistry parameters for evaluation of oxidative stress in human sperm.

Diaz J, Fernandez-Arjona M, Perandones C, Serrano E, Frau C, Cortes I, Luque A, Carbonell LF.

Clin Chem. 1998 Oct;44(10):2197-9. No abstract available.

38.

Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.

Perandones C, Cerretini RI, Vargas Vera RM, Aranda EI, Alba LG, Pivetta OH.

J Med Genet. 1996 Mar;33(3):227-9. Review.

39.

[Apoptosis. Its role in the immune system ontogeny and in HIV infection].

Perandones CE.

Medicina (B Aires). 1996;56(1):110-1. Spanish. No abstract available.

PMID:
8734942
40.
41.

Regulation of apoptosis in vitro in mature murine spleen T cells.

Perandones CE, Illera VA, Peckham D, Stunz LL, Ashman RF.

J Immunol. 1993 Oct 1;151(7):3521-9.

PMID:
8376790
42.

Apoptosis in splenic B lymphocytes. Regulation by protein kinase C and IL-4.

Illera VA, Perandones CE, Stunz LL, Mower DA Jr, Ashman RF.

J Immunol. 1993 Sep 15;151(6):2965-73.

PMID:
8376764
43.

Mycobacterium gastri arthritis: septic arthritis due to Mycobacterium gastri in a patient with a renal transplant.

Perandones CE, Roncoroni AJ, Frega NS, Bianchini HM, Hübscher O.

J Rheumatol. 1991 May;18(5):777-8.

PMID:
1865432

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