Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 34

1.

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.

Ward ME, Chen R, Huang HY, Ludwig C, Telpoukhovskaia M, Taubes A, Boudin H, Minami SS, Reichert M, Albrecht P, Gelfand JM, Cruz-Herranz A, Cordano C, Alavi MV, Leslie S, Seeley WW, Miller BL, Bigio E, Mesulam MM, Bogyo MS, Mackenzie IR, Staropoli JF, Cotman SL, Huang EJ, Gan L, Green AJ.

Sci Transl Med. 2017 Apr 12;9(385). pii: eaah5642. doi: 10.1126/scitranslmed.aah5642.

2.

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage.

Jangi M, Fleet C, Cullen P, Gupta SV, Mekhoubad S, Chiao E, Allaire N, Bennett CF, Rigo F, Krainer AR, Hurt JA, Carulli JP, Staropoli JF.

Proc Natl Acad Sci U S A. 2017 Mar 21;114(12):E2347-E2356. doi: 10.1073/pnas.1613181114. Epub 2017 Mar 7.

3.

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Berkovic SF, Staropoli JF, Carpenter S, Oliver KL, Kmoch S, Anderson GW, Damiano JA, Hildebrand MS, Sims KB, Cotman SL, Bahlo M, Smith KR, Cadieux-Dion M, Cossette P, Jedličková I, Přistoupilová A, Mole SE; ANCL Gene Discovery Consortium.

Neurology. 2016 Aug 9;87(6):579-84. doi: 10.1212/WNL.0000000000002943. Epub 2016 Jul 13.

4.

Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.

Henderson MX, Wirak GS, Zhang YQ, Dai F, Ginsberg SD, Dolzhanskaya N, Staropoli JF, Nijssen PC, Lam TT, Roth AF, Davis NG, Dawson G, Velinov M, Chandra SS.

Acta Neuropathol. 2016 Apr;131(4):621-37. doi: 10.1007/s00401-015-1512-2. Epub 2015 Dec 10.

5.

Practical murine hematopathology: a comparative review and implications for research.

O'Connell KE, Mikkola AM, Stepanek AM, Vernet A, Hall CD, Sun CC, Yildirim E, Staropoli JF, Lee JT, Brown DE.

Comp Med. 2015 Apr;65(2):96-113. Review.

6.

Redefining the MED13L syndrome.

Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM.

Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11.

7.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A; FALS Sequencing Consortium, Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pulst SM, Gibson S, Trojanowski JQ, Elman L, McCluskey L, Grossman M, Shneider NA, Chung WK, Ravits JM, Glass JD, Sims KB, Van Deerlin VM, Maniatis T, Hayes SD, Ordureau A, Swarup S, Landers J, Baas F, Allen AS, Bedlack RS, Harper JW, Gitler AD, Rouleau GA, Brown R, Harms MB, Cooper GM, Harris T, Myers RM, Goldstein DB.

Science. 2015 Mar 27;347(6229):1436-41. doi: 10.1126/science.aaa3650. Epub 2015 Feb 19.

8.

Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7.

Staropoli JF, Li H, Chun SJ, Allaire N, Cullen P, Thai A, Fleet CM, Hua Y, Bennett CF, Krainer AR, Kerr D, McCampbell A, Rigo F, Carulli JP.

Genomics. 2015 Apr;105(4):220-8. doi: 10.1016/j.ygeno.2015.01.007. Epub 2015 Jan 31.

9.

Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.

Taylor JL, Lee FK, Yazdanpanah GK, Staropoli JF, Liu M, Carulli JP, Sun C, Dobrowolski SF, Hannon WH, Vogt RF.

Clin Chem. 2015 Feb;61(2):412-9. doi: 10.1373/clinchem.2014.231019. Epub 2014 Dec 11.

10.

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

Lojewski X, Staropoli JF, Biswas-Legrand S, Simas AM, Haliw L, Selig MK, Coppel SH, Goss KA, Petcherski A, Chandrachud U, Sheridan SD, Lucente D, Sims KB, Gusella JF, Sondhi D, Crystal RG, Reinhardt P, Sterneckert J, Schöler H, Haggarty SJ, Storch A, Hermann A, Cotman SL.

Hum Mol Genet. 2014 Apr 15;23(8):2005-22. doi: 10.1093/hmg/ddt596. Epub 2013 Nov 23.

11.

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.

Cotman SL, Karaa A, Staropoli JF, Sims KB.

Curr Neurol Neurosci Rep. 2013 Aug;13(8):366. doi: 10.1007/s11910-013-0366-z. Review.

12.

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.

Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M.

Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7.

13.

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL.

Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28.

14.

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.

Staropoli JF, Xin W, Barone R, Cotman SL, Sims KB.

BMC Med Genet. 2012 Jun 24;13:50. doi: 10.1186/1471-2350-13-50.

15.

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.

Staropoli JF, Haliw L, Biswas S, Garrett L, Hölter SM, Becker L, Skosyrski S, Da Silva-Buttkus P, Calzada-Wack J, Neff F, Rathkolb B, Rozman J, Schrewe A, Adler T, Puk O, Sun M, Favor J, Racz I, Bekeredjian R, Busch DH, Graw J, Klingenspor M, Klopstock T, Wolf E, Wurst W, Zimmer A, Lopez E, Harati H, Hill E, Krause DS, Guide J, Dragileva E, Gale E, Wheeler VC, Boustany RM, Brown DE, Breton S, Ruether K, Gailus-Durner V, Fuchs H, de Angelis MH, Cotman SL.

PLoS One. 2012;7(6):e38310. doi: 10.1371/journal.pone.0038310. Epub 2012 Jun 6.

16.

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF.

Am J Hum Genet. 2012 Jun 8;90(6):1102-7. doi: 10.1016/j.ajhg.2012.04.021. Epub 2012 May 17.

18.

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.

Brown JA, Min J, Staropoli JF, Collin E, Bi S, Feng X, Barone R, Cao Y, O'Malley L, Xin W, Mullen TE, Sims KB.

Amyotroph Lateral Scler. 2012 Feb;13(2):217-22. doi: 10.3109/17482968.2011.643899.

PMID:
22292843
19.

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S.

PLoS One. 2012;7(1):e29729. doi: 10.1371/journal.pone.0029729. Epub 2012 Jan 3. Erratum in: PLoS One. 2012;7(9). doi:10.1371/annotation/26d7eb64-ccd2-41db-b1aa-7cdc8c1eff95.

20.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S.

Am J Hum Genet. 2011 Aug 12;89(2):241-52. doi: 10.1016/j.ajhg.2011.07.003. Epub 2011 Aug 4. Erratum in: Am J Hum Genet. 2011 Oct 7;89(4):589.

21.

Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation.

Leon A, Staropoli JF, Hernandez JM, Longtine JA, Kuo FC, Dal Cin P.

Leuk Res. 2011 Sep;35(9):1188-92. doi: 10.1016/j.leukres.2011.02.001. Epub 2011 Mar 3.

PMID:
21376394
22.

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.

Cao Y, Staropoli JF, Biswas S, Espinola JA, MacDonald ME, Lee JM, Cotman SL.

PLoS One. 2011 Feb 17;6(2):e17118. doi: 10.1371/journal.pone.0017118.

23.

Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.

Staropoli JF, Xin W, Sims KB.

J Med Genet. 2010 Nov;47(11):786-90. doi: 10.1136/jmg.2010.079301. Epub 2010 Aug 2.

PMID:
20679667
24.

Derivative (1)t(1;19)(p13;p13) in the setting of myelofibrosis with JAK2 V617F.

Staropoli JF, Wadleigh M, Dal Cin P.

Cancer Genet Cytogenet. 2009 Jun;191(2):109-10. doi: 10.1016/j.cancergencyto.2008.12.015. No abstract available.

PMID:
19446748
25.

An inquiry into the relationship between ABO blood group and thrombotic thrombocytopenic purpura.

Staropoli JF, Stowell CP, Tuncer HH, Marques MB.

Vox Sang. 2009 May;96(4):344-8. doi: 10.1111/j.1423-0410.2009.01164.x.

PMID:
20701734
26.

Membrane autoantibodies in systemic lupus erythematosus: a case of autoimmune hemolytic anemia, antiphospholipid antibodies, and transient acquired activated protein C resistance.

Staropoli JF, Van Cott EM, Makar RS.

Transfusion. 2008 Nov;48(11):2435-41. doi: 10.1111/j.1537-2995.2008.01877.x. Epub 2008 Jul 30.

PMID:
18673345
27.

Tumorigenesis and neurodegeneration: two sides of the same coin?

Staropoli JF.

Bioessays. 2008 Aug;30(8):719-27. doi: 10.1002/bies.20784. Review.

PMID:
18623069
28.

Cord formation in a clinical isolate of Mycobacterium marinum.

Staropoli JF, Branda JA.

J Clin Microbiol. 2008 Aug;46(8):2814-6. doi: 10.1128/JCM.00197-08. Epub 2008 Jun 25.

29.

The ubiquitin-proteasome pathway is necessary for maintenance of the postmitotic status of neurons.

Staropoli JF, Abeliovich A.

J Mol Neurosci. 2005;27(2):175-83.

PMID:
16186628
30.

STUDENTJAMA. The evolution and evaluation of modern medical education.

Staropoli JF.

JAMA. 2004 May 5;291(17):2138. No abstract available.

PMID:
15126444
31.

MSJAMA: Funding and practice of biomedical research.

Staropoli JF.

JAMA. 2003 Jul 2;290(1):112. No abstract available.

PMID:
12837721
32.

Parkin is a component of an SCF-like ubiquitin ligase complex and protects postmitotic neurons from kainate excitotoxicity.

Staropoli JF, McDermott C, Martinat C, Schulman B, Demireva E, Abeliovich A.

Neuron. 2003 Mar 6;37(5):735-49.

33.

MSJAMA: The public health implications of global warming.

Staropoli JF.

JAMA. 2002 May 1;287(17):2282. No abstract available.

PMID:
11980531
34.

Supplemental Content

Loading ...
Support Center