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Items: 1 to 50 of 68

1.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group.

Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1.

PMID:
31187503
2.

Implementing a self-management mobile app for spinal cord injury during inpatient rehabilitation and following community discharge: A feasibility study.

MacGillivray MK, Sadeghi M, Mills PB, Adams J, Sawatzky BJ, Mortenson WB.

J Spinal Cord Med. 2019 May 15:1-9. doi: 10.1080/10790268.2019.1614343. [Epub ahead of print]

PMID:
31091160
3.

Disorders affecting vitamin B6 metabolism.

Wilson MP, Plecko B, Mills PB, Clayton PT.

J Inherit Metab Dis. 2019 Jul;42(4):629-646. doi: 10.1002/jimd.12060. Epub 2019 Mar 20. Review.

PMID:
30671974
4.

Improving Self-Management Skills Among People With Spinal Cord Injury: Protocol for a Mixed-Methods Study.

Mortenson WB, Mills PB, Adams J, Singh G, MacGillivray M, Sawatzky B.

JMIR Res Protoc. 2018 Nov 14;7(11):e11069. doi: 10.2196/11069.

5.

Early predictors of developing problematic spasticity following traumatic spinal cord injury: A prospective cohort study.

Mills PB, Holtz KA, Szefer E, Noonan VK, Kwon BK.

J Spinal Cord Med. 2018 Oct 9:1-16. doi: 10.1080/10790268.2018.1527082. [Epub ahead of print]

PMID:
30299227
6.

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.

Baruteau J, Perocheau DP, Hanley J, Lorvellec M, Rocha-Ferreira E, Karda R, Ng J, Suff N, Diaz JA, Rahim AA, Hughes MP, Banushi B, Prunty H, Hristova M, Ridout DA, Virasami A, Heales S, Howe SJ, Buckley SMK, Mills PB, Gissen P, Waddington SN.

Nat Commun. 2018 Aug 29;9(1):3505. doi: 10.1038/s41467-018-05972-1.

7.

Treatment patterns of in-patient spasticity medication use after traumatic spinal cord injury: a prospective cohort study.

Holtz KA, Szefer E, Noonan VK, Kwon BK, Mills PB.

Spinal Cord. 2018 Dec;56(12):1176-1183. doi: 10.1038/s41393-018-0165-0. Epub 2018 Jun 14.

PMID:
29904191
8.

A Delphi-Based Consensus Statement on the Management of Anticoagulated Patients With Botulinum Toxin for Limb Spasticity.

Boulias C, Ismail F, Phadke CP, Bagg S, Bureau I, Charest S, Chen R, Cheng A, Ethans K, Fink M, Finlayson H, Gulasingam S, Guo M, Haziza M, Hosseini H, Khan O, Lang M, Lapp T, Leckey R, Li Pi Shan R, Liem N, Lo A, Mason M, McNeil S, McVeigh S, Miller T, Mills PB, Naud P, O'Connell C, Petitclerc M, Prevost J, Reebye R, Richardson D, Satkunam L, Sharma S, Short C, Sirois G, Unarket M, Wein T, Wilkins K, Winston P.

Arch Phys Med Rehabil. 2018 Nov;99(11):2183-2189. doi: 10.1016/j.apmr.2018.04.023. Epub 2018 May 24.

PMID:
29803825
9.

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

de Rooy RLP, Halbertsma FJ, Struijs EA, van Spronsen FJ, Lunsing RJ, Schippers HM, van Hasselt PM, Plecko B, Wohlrab G, Whalen S, Benoist JF, Valence S, Mills PB, Bok LA.

Eur J Paediatr Neurol. 2018 Jul;22(4):662-666. doi: 10.1016/j.ejpn.2018.03.009. Epub 2018 Mar 30.

PMID:
29661537
10.

Intra-rater and inter-rater reliability of the Penn Spasm Frequency Scale in People with chronic traumatic spinal cord injury.

Mills PB, Vakil AP, Phillips C, Kei L, Kwon BK.

Spinal Cord. 2018 Jun;56(6):569-574. doi: 10.1038/s41393-018-0063-5. Epub 2018 Jan 25.

PMID:
29371700
11.

An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.

Wilson MP, Footitt EJ, Papandreou A, Uudelepp ML, Pressler R, Stevenson DC, Gabriel C, McSweeney M, Baggot M, Burke D, Stödberg T, Riney K, Schiff M, Heales SJR, Mills KA, Gissen P, Clayton PT, Mills PB.

Anal Chem. 2017 Sep 5;89(17):8892-8900. doi: 10.1021/acs.analchem.7b01358. Epub 2017 Aug 17.

12.

SLC39A14 Deficiency.

Tuschl K, Gregory A, Meyer E, Clayton PT, Hayflick SJ, Mills PB, Kurian MA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 May 25.

13.

Host-Microbe Co-metabolism Dictates Cancer Drug Efficacy in C. elegans.

Scott TA, Quintaneiro LM, Norvaisas P, Lui PP, Wilson MP, Leung KY, Herrera-Dominguez L, Sudiwala S, Pessia A, Clayton PT, Bryson K, Velagapudi V, Mills PB, Typas A, Greene NDE, Cabreiro F.

Cell. 2017 Apr 20;169(3):442-456.e18. doi: 10.1016/j.cell.2017.03.040.

14.

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

Reid ES, Williams H, Anderson G, Benatti M, Chong K, James C, Ocaka L; GOSgene, Hemingway C, Little D, Brown R, Parker A, Holden S, Footitt E, Rahman S, Gissen P, Mills PB, Clayton PT.

J Inherit Metab Dis. 2017 May;40(3):385-394. doi: 10.1007/s10545-017-0025-7. Epub 2017 Mar 2.

15.

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE.

J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1.

16.

Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy.

Mohamed-Ahmed AH, Wilson MP, Albuera M, Chen T, Mills PB, Footitt EJ, Clayton PT, Tuleu C.

J Pharm Pharmacol. 2017 Apr;69(4):480-488. doi: 10.1111/jphp.12701. Epub 2017 Feb 21.

PMID:
28220480
17.

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors.

J Inherit Metab Dis. 2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15.

18.

Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease.

Tuschl K, Clayton PT, Gospe SM Jr, Mills PB.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2012 Aug 30 [updated 2017 Feb 9].

19.

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT.

Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011.

20.

Clinicians' perspective of the current diagnostic criteria for myofascial pain syndrome.

Grosman-Rimon L, Clarke H, Chan AK, Mills PB, Rathbone ATL, Kumbhare D.

J Back Musculoskelet Rehabil. 2017;30(3):509-514. doi: 10.3233/BMR-150380.

PMID:
27858678
21.

Prevalence and Effect of Problematic Spasticity After Traumatic Spinal Cord Injury.

Holtz KA, Lipson R, Noonan VK, Kwon BK, Mills PB.

Arch Phys Med Rehabil. 2017 Jun;98(6):1132-1138. doi: 10.1016/j.apmr.2016.09.124. Epub 2016 Oct 22.

PMID:
27780743
22.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Reid ES, Papandreou A, Drury S, Boustred C, Yue WW, Wedatilake Y, Beesley C, Jacques TS, Anderson G, Abulhoul L, Broomfield A, Cleary M, Grunewald S, Varadkar SM, Lench N, Rahman S, Gissen P, Clayton PT, Mills PB.

Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.

23.

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.

Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB.

Am J Hum Genet. 2016 Aug 4;99(2):521. doi: 10.1016/j.ajhg.2016.07.015. No abstract available.

24.

TRNT1 deficiency: clinical, biochemical and molecular genetic features.

Wedatilake Y, Niazi R, Fassone E, Powell CA, Pearce S, Plagnol V, Saldanha JW, Kleta R, Chong WK, Footitt E, Mills PB, Taanman JW, Minczuk M, Clayton PT, Rahman S.

Orphanet J Rare Dis. 2016 Jul 2;11(1):90. doi: 10.1186/s13023-016-0477-0.

25.

Does the method of botulinum neurotoxin injection for limb spasticity affect outcomes? A systematic review.

Chan AK, Finlayson H, Mills PB.

Clin Rehabil. 2017 Jun;31(6):713-721. doi: 10.1177/0269215516655589. Epub 2016 Jul 1.

PMID:
27370102
26.

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW.

Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601.

27.

RARS2 mutations in a sibship with infantile spasms.

Ngoh A, Bras J, Guerreiro R, Meyer E, McTague A, Dawson E, Mankad K, Gunny R, Clayton P, Mills PB, Thornton R, Lai M, Forsyth R, Kurian MA.

Epilepsia. 2016 May;57(5):e97-e102. doi: 10.1111/epi.13358. Epub 2016 Apr 8.

28.

Transcutaneous Electrical Nerve Stimulation for Management of Limb Spasticity: A Systematic Review.

Mills PB, Dossa F.

Am J Phys Med Rehabil. 2016 Apr;95(4):309-18. doi: 10.1097/PHM.0000000000000437. Review.

PMID:
26829077
29.

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

Reid ES, Williams H, Stabej Ple Q, James C, Ocaka L, Bacchelli C, Footitt EJ, Boyd S, Cleary MA, Mills PB, Clayton PT.

JIMD Rep. 2016;27:79-84. doi: 10.1007/8904_2015_460. Epub 2015 Oct 8.

30.

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

Mefford HC, Zemel M, Geraghty E, Cook J, Clayton PT, Paul K, Plecko B, Mills PB, Nordli DR Jr, Gospe SM Jr.

Neurology. 2015 Sep 1;85(9):756-62. doi: 10.1212/WNL.0000000000001883. Epub 2015 Jul 29.

31.

Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.

Oppici E, Fargue S, Reid ES, Mills PB, Clayton PT, Danpure CJ, Cellini B.

Hum Mol Genet. 2015 Oct 1;24(19):5500-11. doi: 10.1093/hmg/ddv276. Epub 2015 Jul 21.

PMID:
26199318
32.

Systematic review of adjunct therapies to improve outcomes following botulinum toxin injection for treatment of limb spasticity.

Mills PB, Finlayson H, Sudol M, O'Connor R.

Clin Rehabil. 2016 Jun;30(6):537-48. doi: 10.1177/0269215515593783. Epub 2015 Jul 21. Review.

PMID:
26198891
33.

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

Levtova A, Camuzeaux S, Laberge AM, Allard P, Brunel-Guitton C, Diadori P, Rossignol E, Hyland K, Clayton PT, Mills PB, Mitchell GA.

JIMD Rep. 2015;22:67-75. doi: 10.1007/8904_2015_413. Epub 2015 Mar 12.

34.

Chemodenervation for treatment of limb spasticity following spinal cord injury: a systematic review.

Lui J, Sarai M, Mills PB.

Spinal Cord. 2015 Apr;53(4):252-64. doi: 10.1038/sc.2014.241. Epub 2015 Jan 13. Review.

PMID:
25582713
35.

Nonpharmacologic management of orthostatic hypotension: a systematic review.

Mills PB, Fung CK, Travlos A, Krassioukov A.

Arch Phys Med Rehabil. 2015 Feb;96(2):366-375.e6. doi: 10.1016/j.apmr.2014.09.028. Epub 2014 Oct 14. Review.

PMID:
25449193
36.
37.

Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.

Dai D, Mills PB, Footitt E, Gissen P, McClean P, Stahlschmidt J, Coupry I, Lavie J, Mochel F, Goizet C, Mizuochi T, Kimura A, Nittono H, Schwarz K, Crick PJ, Wang Y, Griffiths WJ, Clayton PT.

J Inherit Metab Dis. 2014 Sep;37(5):851-61.

PMID:
24658845
38.

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, Das KB, Varadkar SM, Zuberi S, McWilliam R, Stödberg T, Plecko B, Baumgartner MR, Maier O, Calvert S, Riney K, Wolf NI, Livingston JH, Bala P, Morel CF, Feillet F, Raimondi F, Del Giudice E, Chong WK, Pitt M, Clayton PT.

Brain. 2014 May;137(Pt 5):1350-60. doi: 10.1093/brain/awu051. Epub 2014 Mar 18.

39.

Manganese and the brain.

Tuschl K, Mills PB, Clayton PT.

Int Rev Neurobiol. 2013;110:277-312. doi: 10.1016/B978-0-12-410502-7.00013-2. Review.

PMID:
24209443
40.

Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.

Delnooz CC, Wevers RA, Quadri M, Clayton PT, Mills PB, Tuschl K, Steenbergen EJ, Bonifati V, van de Warrenburg BP.

Mov Disord. 2013 May;28(5):685-6. doi: 10.1002/mds.25390. Epub 2013 Apr 16. No abstract available.

PMID:
23592301
41.

Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.

Stamelou M, Tuschl K, Chong WK, Burroughs AK, Mills PB, Bhatia KP, Clayton PT.

Mov Disord. 2012 Sep 1;27(10):1317-22. doi: 10.1002/mds.25138. Epub 2012 Aug 23.

42.

Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.

Footitt EJ, Clayton PT, Mills K, Heales SJ, Neergheen V, Oppenheim M, Mills PB.

J Inherit Metab Dis. 2013 Jan;36(1):139-45. doi: 10.1007/s10545-012-9493-y. Epub 2012 May 11.

PMID:
22576361
43.

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

Mills PB, Footitt EJ, Ceyhan S, Waters PJ, Jakobs C, Clayton PT, Struys EA.

J Inherit Metab Dis. 2012 Nov;35(6):1031-6. doi: 10.1007/s10545-012-9466-1. Epub 2012 Mar 9.

PMID:
22403017
44.

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB.

Am J Hum Genet. 2012 Mar 9;90(3):457-66. doi: 10.1016/j.ajhg.2012.01.018. Epub 2012 Feb 16. Erratum in: Am J Hum Genet. 2016 Aug 4;99(2):521.

45.

Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.

Chong CP, Mills PB, McClean P, Gissen P, Bruce C, Stahlschmidt J, Knisely AS, Clayton PT.

J Inherit Metab Dis. 2012 May;35(3):521-30. doi: 10.1007/s10545-011-9416-3. Epub 2011 Nov 17.

PMID:
22089923
46.

Autonomic function as a missing piece of the classification of paralympic athletes with spinal cord injury.

Mills PB, Krassioukov A.

Spinal Cord. 2011 Jul;49(7):768-76. doi: 10.1038/sc.2011.2. Epub 2011 Mar 1. Review.

PMID:
21358721
47.

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.

Footitt EJ, Heales SJ, Mills PB, Allen GF, Oppenheim M, Clayton PT.

J Inherit Metab Dis. 2011 Apr;34(2):529-38. doi: 10.1007/s10545-011-9279-7. Epub 2011 Feb 9.

PMID:
21305354
48.

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, Hemingway C, Marlow N, Rennie J, Baxter P, Dulac O, Nabbout R, Craigen WJ, Schmitt B, Feillet F, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT.

Brain. 2010 Jul;133(Pt 7):2148-59. doi: 10.1093/brain/awq143. Epub 2010 Jun 16.

49.

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.

Schmitt B, Baumgartner M, Mills PB, Clayton PT, Jakobs C, Keller E, Wohlrab G.

Dev Med Child Neurol. 2010 Jul;52(7):e133-42. doi: 10.1111/j.1469-8749.2010.03660.x. Epub 2010 Mar 29.

50.

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder.

Tuschl K, Mills PB, Parsons H, Malone M, Fowler D, Bitner-Glindzicz M, Clayton PT.

J Inherit Metab Dis. 2008 Apr;31(2):151-63. doi: 10.1007/s10545-008-0813-1. Epub 2008 Apr 4.

PMID:
18392750

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