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Items: 1 to 50 of 77

1.

Development of a rapid functional assay that predicts GLUT1 disease severity.

Zaman SM, Mullen SA, Petrovski S, Maljevic S, Gazina EV, Phillips AM, Jones GD, Hildebrand MS, Damiano J, Auvin S, Lerche H, Weber YG, Berkovic SF, Scheffer IE, Reid CA, Petrou S.

Neurol Genet. 2018 Dec 6;4(6):e297. doi: 10.1212/NXG.0000000000000297. eCollection 2018 Dec.

2.

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.

Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S.

Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297.

PMID:
30561534
3.

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.

Kinay D, Oliver KL, Tüzün E, Damiano JA, Ulusoy C, Andermann E, Hildebrand MS, Bahlo M, Berkovic SF.

Epilepsia. 2018 Aug;59(8):e125-e129. doi: 10.1111/epi.14506. Epub 2018 Jul 4.

PMID:
29974457
4.

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.

Hildebrand MS, Harvey AS, Malone S, Damiano JA, Do H, Ye Z, McQuillan L, Maixner W, Kalnins R, Nolan B, Wood M, Ozturk E, Jones NC, Gillies G, Pope K, Lockhart PJ, Dobrovic A, Leventer RJ, Scheffer IE, Berkovic SF.

Neurol Genet. 2018 May 1;4(3):e236. doi: 10.1212/NXG.0000000000000236. eCollection 2018 Jun.

5.

Three antigen-loading methods in dendritic cell vaccines for metastatic melanoma.

Geskin LJ, Damiano JJ, Patrone CC, Butterfield LH, Kirkwood JM, Falo LD.

Melanoma Res. 2018 Jun;28(3):211-221. doi: 10.1097/CMR.0000000000000441.

PMID:
29543704
6.

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome.

Damiano JA, Do H, Ozturk E, Burgess R, Kalnins R, Jones NC, Dobrovic A, Berkovic SF, Hildebrand MS.

Epileptic Disord. 2017 Dec 1;19(4):450-455. doi: 10.1684/epd.2017.0944.

7.

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

Zhang YH, Burgess R, Malone JP, Glubb GC, Helbig KL, Vadlamudi L, Kivity S, Afawi Z, Bleasel A, Grattan-Smith P, Grinton BE, Bellows ST, Vears DF, Damiano JA, Goldberg-Stern H, Korczyn AD, Dibbens LM, Ruzzo EK, Hildebrand MS, Berkovic SF, Scheffer IE.

Neurology. 2017 Sep 19;89(12):1210-1219. doi: 10.1212/WNL.0000000000004384. Epub 2017 Aug 25.

PMID:
28842445
8.

Evaluation of GLUT1 variation in non-acquired focal epilepsy.

Peeraer A, Damiano JA, Bellows ST, Scheffer IE, Berkovic SF, Mullen SA, Hildebrand MS.

Epilepsy Res. 2017 Jul;133:54-57. doi: 10.1016/j.eplepsyres.2017.04.007. Epub 2017 Apr 10.

PMID:
28419980
9.

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

Perucca P, Scheffer IE, Harvey AS, James PA, Lunke S, Thorne N, Gaff C, Regan BM, Damiano JA, Hildebrand MS, Berkovic SF, O'Brien TJ, Kwan P.

Epilepsy Res. 2017 Mar;131:1-8. doi: 10.1016/j.eplepsyres.2017.02.001. Epub 2017 Feb 7.

PMID:
28199897
10.

SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.

Kivity S, Oliver KL, Afawi Z, Damiano JA, Arsov T, Bahlo M, Berkovic SF.

Epilepsy Res. 2017 Mar;131:9-14. doi: 10.1016/j.eplepsyres.2017.01.012. Epub 2017 Feb 4.

PMID:
28192756
11.

Gene Expression in Electron-Beam-Irradiated Bacteria in Reply to "Live Cell Electron Microscopy Is Probably Impossible".

Kennedy E, Nelson EM, Damiano J, Timp G.

ACS Nano. 2017 Jan 24;11(1):3-7. doi: 10.1021/acsnano.6b06616. No abstract available.

PMID:
28114765
12.

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.

Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS.

Epilepsia. 2017 Mar;58(3):e40-e43. doi: 10.1111/epi.13666. Epub 2017 Jan 18.

13.

De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.

Myers KA, Burgess R, Afawi Z, Damiano JA, Berkovic SF, Hildebrand MS, Scheffer IE.

Epilepsia. 2017 Feb;58(2):e26-e30. doi: 10.1111/epi.13649. Epub 2017 Jan 13.

14.

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Rigbye KA, van Hasselt PM, Burgess R, Damiano JA, Mullen SA, Petrovski S, Puranam RS, van Gassen KL, Gecz J, Scheffer IE, McNamara JO, Berkovic SF, Hildebrand MS.

Epilepsy Res. 2016 Dec;128:48-51. doi: 10.1016/j.eplepsyres.2016.10.008. Epub 2016 Oct 25.

PMID:
27810516
15.

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.

Hildebrand MS, Griffin NG, Damiano JA, Cops EJ, Burgess R, Ozturk E, Jones NC, Leventer RJ, Freeman JL, Harvey AS, Sadleir LG, Scheffer IE, Major H, Darbro BW, Allen AS, Goldstein DB, Kerrigan JF, Berkovic SF, Heinzen EL.

Am J Hum Genet. 2016 Aug 4;99(2):423-9. doi: 10.1016/j.ajhg.2016.05.031. Epub 2016 Jul 21.

16.

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.

17.

Evaluation of non-coding variation in GLUT1 deficiency.

Liu YC, Lee JW, Bellows ST, Damiano JA, Mullen SA, Berkovic SF, Bahlo M, Scheffer IE, Hildebrand MS; Clinical Group.

Dev Med Child Neurol. 2016 Dec;58(12):1295-1302. doi: 10.1111/dmcn.13163. Epub 2016 Jun 6.

18.

A targeted resequencing gene panel for focal epilepsy.

Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC.

Neurology. 2016 Apr 26;86(17):1605-12. doi: 10.1212/WNL.0000000000002608. Epub 2016 Mar 30.

19.

Live Bacterial Physiology Visualized with 5 nm Resolution Using Scanning Transmission Electron Microscopy.

Kennedy E, Nelson EM, Tanaka T, Damiano J, Timp G.

ACS Nano. 2016 Feb 23;10(2):2669-77. doi: 10.1021/acsnano.5b07697. Epub 2016 Feb 2.

PMID:
26811950
20.

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures.

Hildebrand MS, Phillips AM, Mullen SA, Adlard PA, Hardies K, Damiano JA, Wimmer V, Bellows ST, McMahon JM, Burgess R, Hendrickx R, Weckhuysen S, Suls A, De Jonghe P, Scheffer IE, Petrou S, Berkovic SF, Reid CA.

Sci Rep. 2015 Dec 9;5:17816. doi: 10.1038/srep17816.

21.

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.

Damiano JA, Mullen SA, Hildebrand MS, Bellows ST, Lawrence KM, Arsov T, Dibbens L, Major H, Dahl HH, Mefford HC, Darbro BW, Scheffer IE, Berkovic SF.

Epilepsy Res. 2015 Nov;117:70-3. doi: 10.1016/j.eplepsyres.2015.09.007. Epub 2015 Sep 9.

PMID:
26421493
22.

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.

Hildebrand MS, Tankard R, Gazina EV, Damiano JA, Lawrence KM, Dahl HH, Regan BM, Shearer AE, Smith RJ, Marini C, Guerrini R, Labate A, Gambardella A, Tinuper P, Lichetta L, Baldassari S, Bisulli F, Pippucci T, Scheffer IE, Reid CA, Petrou S, Bahlo M, Berkovic SF.

Ann Clin Transl Neurol. 2015 Aug;2(8):821-30. doi: 10.1002/acn3.224. Epub 2015 Jul 3.

23.

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

Damiano JA, Afawi Z, Bahlo M, Mauermann M, Misk A, Arsov T, Oliver KL, Dahl HH, Shearer AE, Smith RJ, Hall NE, Mahmood K, Leventer RJ, Scheffer IE, Muona M, Lehesjoki AE, Korczyn AD, Herrmann H, Berkovic SF, Hildebrand MS.

Hum Mol Genet. 2015 Aug 15;24(16):4483-90. doi: 10.1093/hmg/ddv171. Epub 2015 May 7.

24.

Cohort study of lumbar percutaneous chemonucleolysis using ethanol gel in sciatica refractory to conservative treatment.

Touraine S, Damiano J, Tran O, Laredo JD.

Eur Radiol. 2015 Nov;25(11):3390-7. doi: 10.1007/s00330-015-3740-1. Epub 2015 Apr 23.

PMID:
25903710
25.

Quantitative electrochemical measurements using in situ ec-S/TEM devices.

Unocic RR, Sacci RL, Brown GM, Veith GM, Dudney NJ, More KL, Walden FS 2nd, Gardiner DS, Damiano J, Nackashi DP.

Microsc Microanal. 2014 Apr;20(2):452-61. doi: 10.1017/S1431927614000166. Epub 2014 Mar 11.

PMID:
24618013
26.

Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.

Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Oliver KL, Dahl HH, Scheffer IE, Berkovic SF.

Epilepsia. 2014 Feb;55(2):e18-21. doi: 10.1111/epi.12519. Epub 2014 Jan 31.

27.

Does variation in NIPA2 contribute to genetic generalized epilepsy?

Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Scheffer IE, Berkovic SF.

Hum Genet. 2014 May;133(5):673-4. doi: 10.1007/s00439-013-1414-0. Epub 2014 Jan 10. No abstract available.

PMID:
24408008
28.

Improved microchip design and application for in situ transmission electron microscopy of macromolecules.

Dukes MJ, Thomas R, Damiano J, Klein KL, Balasubramaniam S, Kayandan S, Riffle JS, Davis RM, McDonald SM, Kelly DF.

Microsc Microanal. 2014 Apr;20(2):338-45. doi: 10.1017/S1431927613013858. Epub 2013 Dec 13.

PMID:
24331164
29.

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.

Kim YO, Bellows S, McMahon JM, Iona X, Damiano J, Dibbens L, Kelley K, Gill D, Cross JH, Berkovic SF, Scheffer IE.

Dev Med Child Neurol. 2014 Jan;56(1):85-90. doi: 10.1111/dmcn.12322. Epub 2013 Oct 25.

30.

GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC.

Nat Genet. 2013 Sep;45(9):1073-6. doi: 10.1038/ng.2727. Epub 2013 Aug 11.

31.

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.

Turner SJ, Hildebrand MS, Block S, Damiano J, Fahey M, Reilly S, Bahlo M, Scheffer IE, Morgan AT.

Am J Med Genet A. 2013 Sep;161A(9):2321-6. doi: 10.1002/ajmg.a.36055. Epub 2013 Aug 5.

PMID:
23918746
32.

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.

Hitomi Y, Heinzen EL, Donatello S, Dahl HH, Damiano JA, McMahon JM, Berkovic SF, Scheffer IE, Legros B, Rai M, Weckhuysen S, Suls A, De Jonghe P, Pandolfo M, Goldstein DB, Van Bogaert P, Depondt C.

Ann Neurol. 2013 Sep;74(3):496-501. doi: 10.1002/ana.23934. Epub 2013 Sep 4.

33.

Molecular pathways: blockade of the PRLR signaling pathway as a novel antihormonal approach for the treatment of breast and prostate cancer.

Damiano JS, Wasserman E.

Clin Cancer Res. 2013 Apr 1;19(7):1644-50. doi: 10.1158/1078-0432.CCR-12-0138. Epub 2013 Mar 20. Review.

34.

Recent advances in the molecular genetics of epilepsy.

Hildebrand MS, Dahl HH, Damiano JA, Smith RJ, Scheffer IE, Berkovic SF.

J Med Genet. 2013 May;50(5):271-9. doi: 10.1136/jmedgenet-2012-101448. Epub 2013 Mar 6. Review.

PMID:
23468209
35.

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.

36.

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE.

Ann Neurol. 2012 Nov;72(5):807-15. doi: 10.1002/ana.23702.

PMID:
23280796
37.

Neutralization of prolactin receptor function by monoclonal antibody LFA102, a novel potential therapeutic for the treatment of breast cancer.

Damiano JS, Rendahl KG, Karim C, Embry MG, Ghoddusi M, Holash J, Fanidi A, Abrams TJ, Abraham JA.

Mol Cancer Ther. 2013 Mar;12(3):295-305. doi: 10.1158/1535-7163.MCT-12-0886. Epub 2012 Dec 27.

38.

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.

Arsov T, Mullen SA, Damiano JA, Lawrence KM, Huh LL, Nolan M, Young H, Thouin A, Dahl HH, Berkovic SF, Crompton DE, Sadleir LG, Scheffer IE.

Epilepsia. 2012 Dec;53(12):e204-7. doi: 10.1111/epi.12007. Epub 2012 Oct 25.

39.

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

Cadieux-Dion M, Andermann E, Lachance-Touchette P, Ansorge O, Meloche C, Barnabé A, Kuzniecky RI, Andermann F, Faught E, Leonberg S, Damiano JA, Berkovic SF, Rouleau GA, Cossette P.

Clin Genet. 2013 Jun;83(6):571-5. doi: 10.1111/cge.12020. Epub 2012 Nov 7.

PMID:
22978711
40.

Novel MEMS-based gas-cell/heating specimen holder provides advanced imaging capabilities for in situ reaction studies.

Allard LF, Overbury SH, Bigelow WC, Katz MB, Nackashi DP, Damiano J.

Microsc Microanal. 2012 Aug;18(4):656-66. doi: 10.1017/S1431927612001249. Epub 2012 Jul 27.

PMID:
22835379
41.

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.

42.

Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.

Carranza Rojo D, Harvey AS, Iona X, Dibbens LM, Damiano JA, Arsov T, Gill D, Freeman JL, Leventer RJ, Vincent A, Berkovic SF, McMahon JM, Scheffer IE.

Epilepsy Res. 2012 Jun;100(1-2):194-8. doi: 10.1016/j.eplepsyres.2012.02.007. Epub 2012 Mar 3.

PMID:
22386634
43.

Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

Mullen SA, Marini C, Suls A, Mei D, Della Giustina E, Buti D, Arsov T, Damiano J, Lawrence K, De Jonghe P, Berkovic SF, Scheffer IE, Guerrini R.

Arch Neurol. 2011 Sep;68(9):1152-5. doi: 10.1001/archneurol.2011.102. Epub 2011 May 9.

PMID:
21555602
44.

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF.

Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5.

45.

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

Dibbens LM, Kneen R, Bayly MA, Heron SE, Arsov T, Damiano JA, Desai T, Gibbs J, McKenzie F, Mulley JC, Ronan A, Scheffer IE.

Neurology. 2011 Apr 26;76(17):1514-9. doi: 10.1212/WNL.0b013e318217e7b6.

PMID:
21519002
46.

[Hindfoot pain].

Damiano J, Bouysset M.

Rev Prat. 2010 Mar 20;60(3):353-60. French.

PMID:
20402125
47.

[Forefoot pain].

Damiano J.

Rev Prat. 2010 Mar 20;60(3):345-52. French.

PMID:
20402124
48.

[Diagnostic procedures for painful foot].

Damiano J.

Rev Prat. 2010 Mar 20;60(3):327-33. French.

PMID:
20402121
49.

[Podiatry. A highly clinical field].

Damiano J.

Rev Prat. 2010 Mar 20;60(3):325-6. French. No abstract available.

PMID:
20402120
50.

A new MEMS-based system for ultra-high-resolution imaging at elevated temperatures.

Allard LF, Bigelow WC, Jose-Yacaman M, Nackashi DP, Damiano J, Mick SE.

Microsc Res Tech. 2009 Mar;72(3):208-15. doi: 10.1002/jemt.20673.

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