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Items: 1 to 20 of 70

1.

The Role of PIEZO2 in Human Mechanosensation.

Chesler AT, Szczot M, Bharucha-Goebel D, Čeko M, Donkervoort S, Laubacher C, Hayes LH, Alter K, Zampieri C, Stanley C, Innes AM, Mah JK, Grosmann CM, Bradley N, Nguyen D, Foley AR, Le Pichon CE, Bönnemann CG.

N Engl J Med. 2016 Sep 21. [Epub ahead of print]

2.

Introduction of d-Glutamate at a Critical Residue of Aβ42 Stabilizes a Prefibrillary Aggregate with Enhanced Toxicity.

Warner CJ, Dutta S, Foley AR, Raskatov JA.

Chemistry. 2016 Aug 16;22(34):11967-70. doi: 10.1002/chem.201601763. Epub 2016 Jun 30.

PMID:
27272258
3.

Next-generation sequencing still needs our generation's clinicians.

Foley AR, Donkervoort S, Bönnemann CG.

Neurol Genet. 2015 Aug 13;1(2):e13. doi: 10.1212/NXG.0000000000000019. eCollection 2015 Aug.

4.

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.

Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V, Yang ML, Gibbons MA, Hu Y, Dastgir J, Leach ME, Rutkowski A, Foley AR, Krüger M, Wartchow EP, McNamara E, Ong R, Nowak KJ, Laing NG, Clarke NF, Ottenheijm CA, Marston SB, Bönnemann CG.

Ann Neurol. 2015 Dec;78(6):982-94. doi: 10.1002/ana.24535. Epub 2015 Nov 13.

PMID:
26418456
5.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.

Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF; UK10K Consortium, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N.

Nat Commun. 2015 Sep 14;6:8111. doi: 10.1038/ncomms9111.

6.

The UK10K project identifies rare variants in health and disease.

UK10K Consortium, Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N.

Nature. 2015 Oct 1;526(7571):82-90. doi: 10.1038/nature14962. Epub 2015 Sep 14.

7.

Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient.

Greer K, Mizzi K, Rice E, Kuster L, Barrero RA, Bellgard MI, Lynch BJ, Foley AR, O Rathallaigh E, Wilton SD, Fletcher S.

Mol Genet Genomic Med. 2015 Jul;3(4):320-6. doi: 10.1002/mgg3.144. Epub 2015 Apr 15.

8.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.

Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Erratum in: Nat Commun. 2016;7:11270.

9.

Infantile-onset LMNA-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy.

Moraitis E, Foley AR, Pilkington CA, Manzur AY, Quinlivan R, Jacques TS, Phadke R, Compeyrot-Lacassagne S.

J Rheumatol. 2015 Jun;42(6):1064-6. doi: 10.3899/jrheum.140554. Review. No abstract available.

PMID:
26034236
10.

Whole-genome sequence-based analysis of thyroid function.

Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG; UK0K Consortium.

Nat Commun. 2015 Mar 6;6:5681. doi: 10.1038/ncomms6681. Erratum in: Nat Commun. 2015;6:7172. Lotchkova, Valentina [corrected to Iotchkova, Valentina]; Quai, Michael A [corrected to Quail, Michael].

11.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F.

Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21.

12.

The use of mobile devices as assistive technology in resource-limited environments: access for learners with visual impairments in Kenya.

Foley AR, Masingila JO.

Disabil Rehabil Assist Technol. 2015 Jul;10(4):332-9. doi: 10.3109/17483107.2014.974220. Epub 2014 Oct 24.

PMID:
25342493
13.

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.

Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S, Schindler A, Kokkinis A, Leach M, Foley AR, Collins J, Muntoni F, Rutkowski A, Bönnemann CG.

Neuromuscul Disord. 2015 Jan;25(1):43-54. doi: 10.1016/j.nmd.2014.09.010. Epub 2014 Sep 28.

PMID:
25307854
14.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.

Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JR, Ring SM, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N; UK1OK Consortium Members; UK1OK Consortium Members.

Nat Commun. 2014 Sep 16;5:4871. doi: 10.1038/ncomms5871. Erratum in: Nat Commun. 2015;6:7171.

15.

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann CG.

Hum Mutat. 2015 Jan;36(1):48-56. doi: 10.1002/humu.22691.

16.

Observational study of spinal muscular atrophy type I and implications for clinical trials.

Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman AM, Flickinger J, Montes J, Dunaway S, O'Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De Vivo DC.

Neurology. 2014 Aug 26;83(9):810-7. doi: 10.1212/WNL.0000000000000741. Epub 2014 Jul 30.

17.

Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP.

Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332.

18.

Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.

Chan SH, Foley AR, Phadke R, Mathew AA, Pitt M, Sewry C, Muntoni F.

Neuromuscul Disord. 2014 Aug;24(8):677-83. doi: 10.1016/j.nmd.2014.05.008. Epub 2014 Jun 2.

PMID:
24957499
19.

Whole-genome sequencing and the clinician: a tale of two cities.

Foley AR, Pitceathly RD, He J, Kim J, Pearson NM, Muntoni F, Hanna MG.

J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1012-5. doi: 10.1136/jnnp-2013-306264. Epub 2014 Apr 4.

20.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.

Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R; UK10K Consortium, Duchen MR, Muntoni F, Sheridan E.

Nat Genet. 2014 Feb;46(2):188-93. doi: 10.1038/ng.2851. Epub 2013 Dec 15.

PMID:
24336167
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