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Items: 1 to 50 of 55

1.

Clinical spectrum of STX1B-related epileptic disorders.

Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007089. doi: 10.1212/WNL.0000000000007089. [Epub ahead of print]

PMID:
30737342
2.

Trial watch: Tracing investment in drug development for Alzheimer disease.

Kodamullil AT, Zekri F, Sood M, Hengerer B, Canard L, McHale D, Hofmann-Apitius M.

Nat Rev Drug Discov. 2017 Dec;16(12):819. doi: 10.1038/nrd.2017.169. Epub 2017 Oct 23. No abstract available.

PMID:
29056749
3.

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.

Rocha N, Bulger DA, Frontini A, Titheradge H, Gribsholt SB, Knox R, Page M, Harris J, Payne F, Adams C, Sleigh A, Crawford J, Gjesing AP, Bork-Jensen J, Pedersen O, Barroso I, Hansen T, Cox H, Reilly M, Rossor A, Brown RJ, Taylor SI, McHale D, Armstrong M, Oral EA, Saudek V, O'Rahilly S, Maher ER, Richelsen B, Savage DB, Semple RK.

Elife. 2017 Apr 19;6. pii: e23813. doi: 10.7554/eLife.23813.

4.

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, Elliott PR, McHale D, Maher ER, McKenzie ANJ, Komander D.

Cell. 2016 Aug 25;166(5):1215-1230.e20. doi: 10.1016/j.cell.2016.07.019. Epub 2016 Aug 11.

5.

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

Petrovski S, Parrott RE, Roberts JL, Huang H, Yang J, Gorentla B, Mousallem T, Wang E, Armstrong M, McHale D, MacIver NJ, Goldstein DB, Zhong XP, Buckley RH.

J Clin Immunol. 2016 Jul;36(5):462-71. doi: 10.1007/s10875-016-0281-6. Epub 2016 Apr 13.

6.

Be Cybersecure: Protect Patient Records, Avoid Fines, and Safeguard Your Reputation.

McHale D.

Mich Med. 2015 May-Jun;114(3):8-9. No abstract available.

PMID:
26521415
7.

Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.

Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, Harper A, McHale D, Goldstein D, Petrovski S.

Clin Genet. 2015 Dec;88(6):597-9. doi: 10.1111/cge.12581. Epub 2015 Mar 30. No abstract available.

PMID:
25823418
8.

Boosting translational research on Alzheimer's disease in Europe: The Innovative Medicine Initiative AD research platform.

Vaudano E, Vannieuwenhuyse B, Van Der Geyten S, van der Lei J, Visser PJ, Streffer J, Ritchie C, McHale D, Lovestone S, Hofmann-Apitius M, Truyen L, Goldman M.

Alzheimers Dement. 2015 Sep;11(9):1121-2. doi: 10.1016/j.jalz.2015.02.002. Epub 2015 Apr 7. No abstract available.

PMID:
25754460
9.

Towards the taxonomy of human disease.

Hofmann-Apitius M, Alarcón-Riquelme ME, Chamberlain C, McHale D.

Nat Rev Drug Discov. 2015 Feb;14(2):75-6. doi: 10.1038/nrd4537.

PMID:
25633780
10.

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB.

Genet Med. 2015 Oct;17(10):774-81. doi: 10.1038/gim.2014.191. Epub 2015 Jan 15.

11.

A systematic approach to preclinical and clinical safety biomarker qualification incorporating Bradford Hill's principles of causality association.

Chetty RK, Ozer JS, Lanevschi A, Schuppe-Koistinen I, McHale D, Pears JS, Vonderscher J, Sistare FD, Dieterle F.

Clin Pharmacol Ther. 2010 Aug;88(2):260-2. doi: 10.1038/clpt.2010.77. Epub 2010 Jun 30. Review. No abstract available.

PMID:
20592723
12.

Pain perception is altered by a nucleotide polymorphism in SCN9A.

Reimann F, Cox JJ, Belfer I, Diatchenko L, Zaykin DV, McHale DP, Drenth JP, Dai F, Wheeler J, Sanders F, Wood L, Wu TX, Karppinen J, Nikolajsen L, Männikkö M, Max MB, Kiselycznyk C, Poddar M, Te Morsche RH, Smith S, Gibson D, Kelempisioti A, Maixner W, Gribble FM, Woods CG.

Proc Natl Acad Sci U S A. 2010 Mar 16;107(11):5148-53. doi: 10.1073/pnas.0913181107. Epub 2010 Mar 8.

13.

Association between neprilysin polymorphisms and sporadic Alzheimer's disease.

Wood LS, Pickering EH, McHale D, Dechairo BM.

Neurosci Lett. 2007 Nov 5;427(2):103-6. Epub 2007 Sep 20.

PMID:
17928142
14.

An SCN9A channelopathy causes congenital inability to experience pain.

Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG.

Nature. 2006 Dec 14;444(7121):894-8.

PMID:
17167479
15.

Pharmacogenetics: development issues and solutions for safe and effective medicines.

Arnold HP, McHale D.

Pharmacogenomics. 2006 Mar;7(2):149-55. No abstract available.

PMID:
16515393
16.

Pharmacogenomics and the drug discovery pipeline: when should it be implemented?

Penny MA, McHale D.

Am J Pharmacogenomics. 2005;5(1):53-62. Review.

PMID:
15727489
17.

Report on the joint EFPIA, DIA and EMEA pharmacogenetics workshop: moving toward clinical application.

McCarthy A, Kerr M, Abadie E, Chibout SD, Imbert G, Cohen N, Drakoulis N, Knudsen LE, Flamion B, Hashimoto L, Kreutz WV, McHale D, Mitchell T, Papaluca Amati M, Roberts R, Shaw P, Stuerzebecher CS, Townend D.

Pharmacogenomics. 2004 Sep;5(6):731-9. No abstract available.

PMID:
15335293
18.

Elements of informed consent for pharmacogenetic research; perspective of the pharmacogenetics working group.

Anderson DC, Gomez-Mancilla B, Spear BB, Barnes DM, Cheeseman K, Shaw PM, Friedman J, McCarthy A, Brazell C, Ray SC, McHale D, Hashimoto L, Sandbrink R, Watson ML, Salerno RA, Cohen N, Lister CE; Pharmacogenetics Working Group.

Pharmacogenomics J. 2002;2(5):284-92. Review. No abstract available.

19.

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.

Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J.

Nat Genet. 2001 Aug;28(4):350-4.

PMID:
11438811
20.

A gene for ataxic cerebral palsy maps to chromosome 9p12-q12.

McHale DP, Jackson AP, Campbell, Levene MI, Corry P, Woods CG, Lench NJ, Mueller RF, Markham AF.

Eur J Hum Genet. 2000 Apr;8(4):267-72.

21.

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

Roberts E, Jackson AP, Carradice AC, Deeble VJ, Mannan J, Rashid Y, Jafri H, McHale DP, Markham AF, Lench NJ, Woods CG.

Eur J Hum Genet. 1999 Oct-Nov;7(7):815-20.

22.

A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25.

McHale DP, Mitchell S, Bundey S, Moynihan L, Campbell DA, Woods CG, Lench NJ, Mueller RF, Markham AF.

Am J Hum Genet. 1999 Feb;64(2):526-32.

23.

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

Jackson AP, McHale DP, Campbell DA, Jafri H, Rashid Y, Mannan J, Karbani G, Corry P, Levene MI, Mueller RF, Markham AF, Lench NJ, Woods CG.

Am J Hum Genet. 1998 Aug;63(2):541-6.

24.

Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.

Moynihan LM, Bundey SE, Heath D, Jones EL, McHale DP, Mueller RF, Markham AF, Lench NJ.

Am J Hum Genet. 1998 May;62(5):1123-8.

25.

A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24.

Mitchell SJ, McHale DP, Campbell DA, Lench NJ, Mueller RF, Bundey SE, Markham AF.

Am J Hum Genet. 1998 May;62(5):1070-6.

26.

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.

Campbell DA, McHale DP, Brown KA, Moynihan LM, Houseman M, Karbani G, Parry G, Janjua AH, Newton V, al-Gazali L, Markham AF, Lench NJ, Mueller RF.

J Med Genet. 1997 Dec;34(12):1015-7.

27.

Further evidence of genetic heterogeneity in hereditary hydronephrosis.

McHale D, Porteous ME, Wentzel J, Burn J.

Clin Genet. 1996 Dec;50(6):491-3.

PMID:
9147880
28.

Persistent movement disorders induced by buspirone.

LeWitt PA, Walters A, Hening W, McHale D.

Mov Disord. 1993 Jul;8(3):331-4.

PMID:
8101969
29.

Benefits of monitoring plasma levodopa in Parkinson's disease patients with drug-induced chorea.

Sage JI, Mark MH, McHale DM, Sonsalla PK, Vitagliano D.

Ann Neurol. 1991 Jun;29(6):623-8.

PMID:
1892365
30.

A blinded study of the suppressibility of involuntary movements in Huntington's chorea, tardive dyskinesia, and L-dopa-induced chorea.

Walters AS, McHale D, Sage JI, Hening WA, Bergen M.

Clin Neuropharmacol. 1990 Jun;13(3):236-40.

PMID:
2141544
31.

Complex dystonia of Parkinson's disease: clinical features and relation to plasma levodopa profile.

McHale DM, Sage JI, Sonsalla PK, Vitagliano D.

Clin Neuropharmacol. 1990 Apr;13(2):164-70.

PMID:
2328507
32.

Steady plasma levodopa concentrations required for good clinical response to CR-4 in patients with 'on-off'.

McHale DM, Sage JI, Sonsalla PK, Heikkila RE, Duvoisin RC.

Eur Neurol. 1990;30(2):90-2.

PMID:
2340841
33.

Clinical experience with duodenal infusions of levodopa for the treatment of motor fluctuations in Parkinson's disease.

Sage JI, Sonsalla PK, McHale DM, Heikkila RE, Duvoisin RC.

Adv Neurol. 1990;53:383-6. No abstract available.

PMID:
2122646
34.

Continuous levodopa infusions to treat complex dystonia in Parkinson's disease.

Sage JI, McHale DM, Sonsalla P, Vitagliano D, Heikkila RE.

Neurology. 1989 Jul;39(7):888-91.

PMID:
2472582
35.

Hallucinations and confusion after pergolide withdrawal.

McHale DM, Sage JI.

Clin Neuropharmacol. 1988 Dec;11(6):545-8. No abstract available.

PMID:
3233591
36.

The presence of free D-aspartic acid in rodents and man.

Dunlop DS, Neidle A, McHale D, Dunlop DM, Lajtha A.

Biochem Biophys Res Commun. 1986 Nov 26;141(1):27-32.

PMID:
3801000
37.

Effect of cerebral puncture on brain protein synthesis in adult and young rodents.

Dunlop DS, McHale DM, Lajtha A.

J Neurochem. 1984 Mar;42(3):897-9.

PMID:
6693908
38.

The rate of protein degradation in developing brain. Methodological considerations.

Dunlop DS, McHale DM, Lajtha A.

Biochem J. 1982 Dec 15;208(3):659-66.

39.

Vitamin E and stress. I. Dietary unsaturated fatty acid stress and the metabolism of alpha-tocopherol in the rat.

Green J, Diplock AT, Bunyan J, McHale D, Muthy IR.

Br J Nutr. 1967;21(1):69-101. No abstract available.

PMID:
6022768
40.

Vitamin E and stress. 3. The metabolism of D-alpha-tocopherol in the rat under dietary stress with silver.

Diplock AT, Green J, Bunyan J, McHale D, Muthy IR.

Br J Nutr. 1967;21(1):115-25. No abstract available.

PMID:
6022756
41.

Vitamin E and stress. II. The metabolism of D-alpha-tocopherol and the effects of stress in vitamin E deficiency in the chick.

Diplock AT, Bunyan J, McHale D, Green J.

Br J Nutr. 1967;21(1):103-14. No abstract available.

PMID:
6022755
42.
43.

Vitamin K and oxidative phosphorylation.

Horth CE, McHale D, Jeffries LR, Price SA, Diplock AT, Green J.

Biochem J. 1966 Aug;100(2):424-9.

44.

Bond stabilisation in tocopherols. 3. Structure of nitrosotocopherols and conversion into quinones.

Marcinkiewicz S, Green J, McHale D.

J Chem Soc Perkin 1. 1966;16:1431-3. No abstract available.

PMID:
5949784
45.

Bond stabilisation in tocopherols. II. Claisen rearrangement of but-2-enyl tocopheryl ethers.

McHale D, Marcinkiewicz S, Green J.

J Chem Soc Perkin 1. 1966;16:1427-31. No abstract available.

PMID:
5949783
46.

Bond stabilisation in tocopherols. I. The Claisen rearrangement of allyl tocopheryl ethers.

Green J, Marcinkiewicz S, McHale D.

J Chem Soc Perkin 1. 1966;16:1422-7. No abstract available.

PMID:
5949782
47.

The analysis of alpha-tocopherol and ubiquinone in rat liver.

Diplock AT, Green J, Bunyan J, McHale D.

Br J Nutr. 1966;20(1):94-101. No abstract available.

PMID:
5939296
48.

BIOSYNTHESIS OF UBIQUINONE AND UBICHROMENOL.

GREEN J, DIPLOCK AT, BUNYAN J, MCHALE D.

Biochim Biophys Acta. 1963 Dec 13;78:739-41. No abstract available.

PMID:
14089456

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