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Items: 1 to 50 of 54

1.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Schulz H, Ruppert AK, Zara F, Madia F, Iacomino M, S Vari M, Balagura G, Minetti C, Striano P, Bianchi A, Marini C, Guerrini R, Weber YG, Becker F, Lerche H, Kapser C, Schankin CJ, Kunz WS, Møller RS, Oliver KL, Bellows ST, Mullen SA, Berkovic SF, Scheffer IE, Caglayan H, Ozbek U, Hoffmann P, Schramm S, Tsortouktzidis D, Becker AJ, Sander T.

Epilepsia. 2019 May;60(5):e31-e36. doi: 10.1111/epi.14657. Epub 2019 Feb 4.

PMID:
30719712
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.

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.

Cowley MJ, Liu YC, Oliver KL, Carvill G, Myers CT, Gayevskiy V, Delatycki M, Vlaskamp DRM, Zhu Y, Mefford H, Buckley MF, Bahlo M, Scheffer IE, Dinger ME, Roscioli T.

Hum Mutat. 2019 Apr;40(4):374-379. doi: 10.1002/humu.23699. Epub 2019 Jan 31.

4.

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.

5.

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL.

Am J Hum Genet. 2017 Oct 5;101(4):516-524. doi: 10.1016/j.ajhg.2017.08.013. Epub 2017 Sep 21.

6.

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Bennett CA, Petrovski S, Oliver KL, Berkovic SF.

Neurol Genet. 2017 Jul 6;3(4):e163. doi: 10.1212/NXG.0000000000000163. eCollection 2017 Aug.

7.

brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets.

Freytag S, Burgess R, Oliver KL, Bahlo M.

Genome Med. 2017 Jun 8;9(1):55. doi: 10.1186/s13073-017-0444-y.

8.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.

Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF.

Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929.

PMID:
28380698
9.

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
10.

An Activist Approach to Sport Meets Youth From Socially Vulnerable Backgrounds: Possible Learning Aspirations.

Luguetti C, Oliver KL, Dantas LE, Kirk D.

Res Q Exerc Sport. 2017 Mar;88(1):60-71. doi: 10.1080/02701367.2016.1263719. Epub 2017 Jan 11.

11.

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.

12.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM.

Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8.

13.

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Oliver KL, Lukic V, Freytag S, Scheffer IE, Berkovic SF, Bahlo M.

Neurol Genet. 2016 Jan 14;2(1):e51. doi: 10.1212/NXG.0000000000000051. eCollection 2016 Feb.

14.

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

Benninger F, Afawi Z, Korczyn AD, Oliver KL, Pendziwiat M, Nakamura M, Sano A, Helbig I, Berkovic SF, Blatt I.

Epilepsia. 2016 Apr;57(4):549-56. doi: 10.1111/epi.13318. Epub 2016 Jan 27.

15.

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.

Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana E, Masalha R, Kramer U, Ekstein D, Shorer Z, Wallace RH, Mangelsdorf M, MacPherson JN, Carvill GL, Mefford HC, Jackson GD, Scheffer IE, Bahlo M, Gecz J, Heron SE, Corbett M, Mulley JC, Dibbens LM, Korczyn AD, Berkovic SF.

Neurology. 2016 Feb 23;86(8):713-22. doi: 10.1212/WNL.0000000000002404. Epub 2016 Jan 22.

16.

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.

Licchetta L, Bisulli F, Fietz M, Valentino ML, Morbin M, Mostacci B, Oliver KL, Berkovic SF, Tinuper P.

Eur J Med Genet. 2015 Oct;58(10):540-4. doi: 10.1016/j.ejmg.2015.09.002. Epub 2015 Sep 7.

PMID:
26360874
17.

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.

18.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE.

Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17.

19.

Using familial information for variant filtering in high-throughput sequencing studies.

Bahlo M, Tankard R, Lukic V, Oliver KL, Smith KR.

Hum Genet. 2014 Nov;133(11):1331-41. doi: 10.1007/s00439-014-1479-4. Epub 2014 Aug 17. Review. Erratum in: Hum Genet. 2015 May;134(5):509.

20.

Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.

Oliver KL, Lukic V, Thorne NP, Berkovic SF, Scheffer IE, Bahlo M.

PLoS One. 2014 Jul 9;9(7):e102079. doi: 10.1371/journal.pone.0102079. eCollection 2014.

21.

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.

Puskarjov M, Seja P, Heron SE, Williams TC, Ahmad F, Iona X, Oliver KL, Grinton BE, Vutskits L, Scheffer IE, Petrou S, Blaesse P, Dibbens LM, Berkovic SF, Kaila K.

EMBO Rep. 2014 Jun;15(6):723-9. doi: 10.1002/embr.201438749. Epub 2014 Mar 24.

22.

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.

23.

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.

Afawi Z, Mandelstam S, Korczyn AD, Kivity S, Walid S, Shalata A, Oliver KL, Corbett M, Gecz J, Berkovic SF, Jackson GD.

Epilepsy Res. 2013 Jul;105(1-2):240-4. doi: 10.1016/j.eplepsyres.2013.02.005. Epub 2013 Mar 19.

PMID:
23517570
24.

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM.

Nat Genet. 2012 Nov;44(11):1188-90. doi: 10.1038/ng.2440. Epub 2012 Oct 21.

PMID:
23086396
25.
26.

Rare protein sequence variation in SV2A gene does not affect response to levetiracetam.

Dibbens LM, Hodgson BL, Helbig KL, Oliver KL, Mulley JC, Berkovic SF, Scheffer IE.

Epilepsy Res. 2012 Sep;101(3):277-9. doi: 10.1016/j.eplepsyres.2012.04.007. Epub 2012 Apr 30.

PMID:
22551666
27.

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J.

Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001.

28.
29.

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.

Heron SE, Scheffer IE, Grinton BE, Eyre H, Oliver KL, Bain S, Berkovic SF, Mulley JC.

Epilepsia. 2010 Sep;51(9):1865-9. doi: 10.1111/j.1528-1167.2010.02558.x.

30.

Effects of transgenic hybrid aspen overexpressing polyphenol oxidase on rhizosphere diversity.

Oliver KL, Hamelin RC, Hintz WE.

Appl Environ Microbiol. 2008 Sep;74(17):5340-8. doi: 10.1128/AEM.02836-07. Epub 2008 Jun 13.

31.

OR expansion--a journey into the unknown.

Oliver KL.

AORN J. 2004 Feb;79(2):369-72.

PMID:
15002833
32.

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease.

Schiffmann R, Murray GJ, Treco D, Daniel P, Sellos-Moura M, Myers M, Quirk JM, Zirzow GC, Borowski M, Loveday K, Anderson T, Gillespie F, Oliver KL, Jeffries NO, Doo E, Liang TJ, Kreps C, Gunter K, Frei K, Crutchfield K, Selden RF, Brady RO.

Proc Natl Acad Sci U S A. 2000 Jan 4;97(1):365-70.

33.

Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease.

Brady RO, Murray GJ, Oliver KL, Leitman SF, Sneller MC, Fleisher TA, Barton NW.

Pediatrics. 1997 Dec;100(6):E11.

PMID:
9382912
34.

Studies on the turnover of exogenous mannose-terminal glucocerebrosidase in rat liver lysosomes.

Murray GJ, Oliver KL, Jin FS, Brady RO.

J Cell Biochem. 1995 Feb;57(2):208-17.

PMID:
7759558
35.

Cell line GM-4390 deficient in lysosomal alpha-galactosidase activity.

Kaneski CR, Oliver KL, Quirk JM.

In Vitro Cell Dev Biol. 1991 Apr;27A(4):277-8. No abstract available.

PMID:
1649815
36.

Hyperlipidemia as a complication of Niemann-Pick type B disease.

Filling-Katz M, Fink JK, Oliver KL, Kaneski C, Merrick HF, Argoff CE, Barton N, Brady RO, Gregg RE.

Clin Pediatr (Phila). 1990 Nov;29(11):670-3. No abstract available.

PMID:
2265521
37.

Biochemical and morphological effects of 20,25-diazacholesterol on cultured muscle cells.

Reddy NB, Askanas V, Oliver KL, Lawrence JV, Carter L, Engel WK.

Biochem Pharmacol. 1982 Jan 1;31(1):91-7.

PMID:
7059357
38.
39.

The effect of pharmacologic acetylcholine receptor on fibrillation and myotonia in rat skeletal muscle.

Brumback RA, Bertorini TE, Engel WK, Trotter JL, Oliver KL, Zirzow GC.

Arch Neurol. 1978 Jan;35(1):8-10.

PMID:
619877
40.
42.

A private practice management of mid-trimester abortion.

Tidwell JW 2nd, Oliver KL.

N C Med J. 1977 Mar;38(3):148-50. No abstract available.

PMID:
265424
43.

Serotonin-induced muscle weakness.

Patten BM, Oliver KL, Engel WK.

Arch Neurol. 1974 Nov;31(5):347-9. No abstract available.

PMID:
4153474
44.

Effect of lactate infusions on patients with myasthenia gravis.

Patten BM, Oliver KL, Engel WK.

Neurology. 1974 Oct;24(10):986-90. No abstract available.

PMID:
4472087
45.

Adverse interaction between steroid hormones and anticholinesterase drugs.

Patten BM, Oliver KL, Engel WK.

Neurology. 1974 May;24(5):442-9. No abstract available.

PMID:
4363816
46.

Adverse interaction between corticosteroid hormones and anticholinesterase drugs.

Patten BM, Oliver KL, Engel WK.

Trans Am Neurol Assoc. 1973;98:248-52. No abstract available.

PMID:
4784943
47.

Toxicity of Elapidae venoms and an observation in relation to geographical location.

Irwin RL, Oliver KL, Mohamed AH, Haast WE.

Toxicon. 1970 May;8(1):51-4. No abstract available.

PMID:
5453491
48.

Potassium-dependent relazation of slow skeletal muscle.

Irwin RL, Oliver KL.

Life Sci. 1970 Apr;9(7):415-20. No abstract available.

PMID:
4245441
49.

Prevention of relaxation in slow skeletal muscle by inhibition of active transport of sodium.

Irwin RL, Oliver KL.

Am J Physiol. 1970 Apr;218(4):1216-23. No abstract available.

PMID:
4244882
50.

Water intoxication complicating elective induction of labor at term. Report of a patient who survived.

Burt RL, Oliver KL, Whitener DL.

Obstet Gynecol. 1969 Aug;34(2):212-4. No abstract available.

PMID:
5798264

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