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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M.

Hum Genet. 2018 Jan 5. doi: 10.1007/s00439-017-1862-z. [Epub ahead of print]


Quantifying Complexity in Quantum Phase Transitions via Mutual Information Complex Networks.

Valdez MA, Jaschke D, Vargas DL, Carr LD.

Phys Rev Lett. 2017 Dec 1;119(22):225301. doi: 10.1103/PhysRevLett.119.225301. Epub 2017 Nov 29.


Introducing sit-stand desks increases classroom standing time among university students.

Jerome M, Janz KF, Baquero B, Carr LJ.

Prev Med Rep. 2017 Nov 9;8:232-237. doi: 10.1016/j.pmedr.2017.10.019. eCollection 2017 Dec.


Workplace Strategies to Prevent Sitting-induced Endothelial Dysfunction.

Kruse NT, Hughes WE, Benzo RM, Carr LJ, Casey DP.

Med Sci Sports Exerc. 2017 Nov 7. doi: 10.1249/MSS.0000000000001484. [Epub ahead of print]


Visualisation of an nsPEF induced calcium wave using the genetically encoded calcium indicator GCaMP in U87 human glioblastoma cells.

Carr L, Bardet SM, Arnaud-Cormos D, Leveque P, O'Connor RP.

Bioelectrochemistry. 2018 Feb;119:68-75. doi: 10.1016/j.bioelechem.2017.09.003. Epub 2017 Sep 8.


Personalization of the Microbiota of Donor Human Milk with Mother's Own Milk.

Cacho NT, Harrison NA, Parker LA, Padgett KA, Lemas DJ, Marcial GE, Li N, Carr LE, Neu J, Lorca GL.

Front Microbiol. 2017 Aug 3;8:1470. doi: 10.3389/fmicb.2017.01470. eCollection 2017.


Nanosecond pulsed electric fields depolarize transmembrane potential via voltage-gated K+, Ca2+ and TRPM8 channels in U87 glioblastoma cells.

Burke RC, Bardet SM, Carr L, Romanenko S, Arnaud-Cormos D, Leveque P, O'Connor RP.

Biochim Biophys Acta. 2017 Oct;1859(10):2040-2050. doi: 10.1016/j.bbamem.2017.07.004. Epub 2017 Jul 8.


Entangled Dynamics in Macroscopic Quantum Tunneling of Bose-Einstein Condensates.

Alcala DA, Glick JA, Carr LD.

Phys Rev Lett. 2017 May 26;118(21):210403. doi: 10.1103/PhysRevLett.118.210403. Epub 2017 May 25.


Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJH, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969b. No abstract available.


Supporting Looked After Children and Care Leavers In Decreasing Drugs, and alcohol (SOLID): protocol for a pilot feasibility randomised controlled trial of interventions to decrease risky substance use (drugs and alcohol) and improve mental health of looked after children and care leavers aged 12-20 years.

Alderson H, McGovern R, Brown R, Howel D, Becker F, Carr L, Copello A, Fouweather T, Kaner E, McArdle P, McColl E, Shucksmith J, Steele A, Vale L, Lingam R.

Pilot Feasibility Stud. 2017 May 22;3:25. doi: 10.1186/s40814-017-0138-7. eCollection 2017.


The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

Hikmat O, Tzoulis C, Chong WK, Chentouf L, Klingenberg C, Fratter C, Carr LJ, Prabhakar P, Kumaraguru N, Gissen P, Cross JH, Jacques TS, Taanman JW, Bindoff LA, Rahman S.

Genet Med. 2017 Nov;19(11):1217-1225. doi: 10.1038/gim.2017.35. Epub 2017 Apr 27.


Salve and Burdock: A Safe, Effective Amish Remedy for Treatment of Traumatic Wounds?

Flurry MD, Herring KL, Carr LW, Hauck RM, Potochny JD.

Adv Skin Wound Care. 2017 May;30(5):213-217. doi: 10.1097/01.ASW.0000515079.07160.e3.


Understanding pain and coping in women with interstitial cystitis/bladder pain syndrome.

Katz L, Tripp DA, Carr LK, Mayer R, Moldwin RM, Nickel JC.

BJU Int. 2017 Aug;120(2):286-292. doi: 10.1111/bju.13874. Epub 2017 May 5.


Rapidly Involuting Congenital Hemangioma of the Hand.

Delgadillo D 3rd, Carr LW, Brgoch MS, Ingraham JM.

Eplasty. 2017 Mar 8;17:ic6. eCollection 2017. No abstract available.


Expression patterns of Slit and Robo family members in adult mouse spinal cord and peripheral nervous system.

Carr L, Parkinson DB, Dun XP.

PLoS One. 2017 Feb 24;12(2):e0172736. doi: 10.1371/journal.pone.0172736. eCollection 2017.


Interaction-Assisted Quantum Tunneling of a Bose-Einstein Condensate Out of a Single Trapping Well.

Potnis S, Ramos R, Maeda K, Carr LD, Steinberg AM.

Phys Rev Lett. 2017 Feb 10;118(6):060402. doi: 10.1103/PhysRevLett.118.060402. Epub 2017 Feb 10.


Students' participation in collaborative research should be recognised.

STARSurg Collaborative.

Int J Surg. 2017 Mar;39:234-237. doi: 10.1016/j.ijsu.2017.01.114. Epub 2017 Feb 4. No abstract available.


Calcium-independent disruption of microtubule dynamics by nanosecond pulsed electric fields in U87 human glioblastoma cells.

Carr L, Bardet SM, Burke RC, Arnaud-Cormos D, Leveque P, O'Connor RP.

Sci Rep. 2017 Jan 24;7:41267. doi: 10.1038/srep41267.


Depression and catastrophizing predict suicidal ideation in tertiary care patients with interstitial cystitis/bladder pain syndrome.

Tripp DA, Nickel JC, Krsmanovic A, Pontari M, Moldwin R, Mayer R, Carr LK, Yang CC, Nordling J.

Can Urol Assoc J. 2016 Nov-Dec;10(11-12):383-388. doi: 10.5489/cuaj.3892.


A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis.

Carmona FD, Vaglio A, Mackie SL, Hernández-Rodríguez J, Monach PA, Castañeda S, Solans R, Morado IC, Narváez J, Ramentol-Sintas M, Pease CT, Dasgupta B, Watts R, Khalidi N, Langford CA, Ytterberg S, Boiardi L, Beretta L, Govoni M, Emmi G, Bonatti F, Cimmino MA, Witte T, Neumann T, Holle J, Schönau V, Sailler L, Papo T, Haroche J, Mahr A, Mouthon L, Molberg Ø, Diamantopoulos AP, Voskuyl A, Brouwer E, Daikeler T, Berger CT, Molloy ES, O'Neill L, Blockmans D, Lie BA, Mclaren P, Vyse TJ, Wijmenga C, Allanore Y, Koeleman BPC; Spanish CGA Group; UKGCA Consortium; Vasculitis Clinical Research Consortium, Barrett JH, Cid MC, Salvarani C, Merkel PA, Morgan AW, González-Gay MA, Martín J.

Am J Hum Genet. 2017 Jan 5;100(1):64-74. doi: 10.1016/j.ajhg.2016.11.013. Epub 2016 Dec 29.

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