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Results: 1 to 20 of 1909

1.

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS.

Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE; SLAGEN Consortium.

Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22.

PMID:
25374358
[PubMed - in process]
2.

Aluminum-induced entropy in biological systems: implications for neurological disease.

Shaw CA, Seneff S, Kette SD, Tomljenovic L, Oller JW Jr, Davidson RM.

J Toxicol. 2014;2014:491316. doi: 10.1155/2014/491316. Epub 2014 Oct 2. Review.

PMID:
25349607
[PubMed]
Free PMC Article
3.

A serum microRNA signature for amyotrophic lateral sclersosis reveals convergent RNA processing defects and identifies presymptomatic mutation carriers.

Lee YB, Rogelj B, Shaw CE.

Brain. 2014 Nov;137(Pt 11):2875-6. doi: 10.1093/brain/awu262. No abstract available.

PMID:
25344081
[PubMed - in process]
4.

Cationicity-Enhanced Analogues of the Antimicrobial Peptides, AcrAP1 and AcrAP2, from the Venom of the Scorpion, Androctonus crassicauda, Display Potent Growth Modulation Effects on Human Cancer Cell Lines.

Du Q, Hou X, Ge L, Li R, Zhou M, Wang H, Wang L, Wei M, Chen T, Shaw C.

Int J Biol Sci. 2014 Sep 21;10(10):1097-107. doi: 10.7150/ijbs.9859. eCollection 2014.

PMID:
25332684
[PubMed - in process]
Free PMC Article
5.

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study.

Al-Chalabi A, Calvo A, Chio A, Colville S, Ellis CM, Hardiman O, Heverin M, Howard RS, Huisman MH, Keren N, Leigh PN, Mazzini L, Mora G, Orrell RW, Rooney J, Scott KM, Scotton WJ, Seelen M, Shaw CE, Sidle KS, Swingler R, Tsuda M, Veldink JH, Visser AE, van den Berg LH, Pearce N.

Lancet Neurol. 2014 Nov;13(11):1108-13. doi: 10.1016/S1474-4422(14)70219-4. Epub 2014 Oct 7.

PMID:
25300936
[PubMed - in process]
Free PMC Article
6.

Common variants in the human platelet PAR4 thrombin receptor alter platelet function and differ by race.

Edelstein LC, Simon LM, Lindsay CR, Kong X, Teruel Montoya R, Tourdot BE, Chen ES, Ma L, Coughlin S, Nieman M, Holinstat M, Shaw CA, Bray PF.

Blood. 2014 Oct 7. pii: blood-2014-04-572479. [Epub ahead of print]

PMID:
25293779
[PubMed - as supplied by publisher]
7.

Seasonal variation of relapse rate in multiple sclerosis is latitude dependent.

Spelman T, Gray O, Trojano M, Petersen T, Izquierdo G, Lugaresi A, Hupperts R, Bergamaschi R, Duquette P, Grammond P, Giuliani G, Boz C, Verheul F, Oreja-Guevara C, Barnett M, Grand'Maison F, Edite Rio M, Lechner-Scott J, Van Pesch V, Fernandez Bolanos R, Flechter S, Den Braber-Moerland L, Iuliano G, Amato MP, Slee M, Cristiano E, Saladino ML, Paine M, Vella N, Kasa K, Deri N, Herbert J, Moore F, Petkovska-Boskova T, Alroughani R, Savino A, Shaw C, Vucic S, Santiago V, Bacile EA, Skromne E, Poehlau D, Cabrera-Gomez JA, Lucas R, Butzkueven H.

Ann Neurol. 2014 Oct 4. doi: 10.1002/ana.24287. [Epub ahead of print]

PMID:
25283272
[PubMed - as supplied by publisher]
8.

A novel bradykinin-related dodecapeptide (RVALPPGFTPLR) from the skin secretion of the Fujian large-headed frog (Limnonectes fujianensis) exhibiting unusual structural and functional features.

Shi D, Luo Y, Du Q, Wang L, Zhou M, Ma J, Li R, Chen T, Shaw C.

Toxins (Basel). 2014 Sep 29;6(10):2886-98. doi: 10.3390/toxins6102886.

PMID:
25268979
[PubMed - in process]
Free PMC Article
9.

Drug delivery: lessons to be learnt from Leishmania studies.

Shaw CD, Carter KC.

Nanomedicine (Lond). 2014 Jul;9(10):1531-44. doi: 10.2217/nnm.14.66.

PMID:
25253500
[PubMed - in process]
10.

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.

Campbell IM, Gambin T, Dittwald P, Beck CR, Shuvarikov A, Hixson P, Patel A, Gambin A, Shaw CA, Rosenfeld JA, Stankiewicz P.

BMC Biol. 2014 Sep 23;12:74. doi: 10.1186/s12915-014-0074-4.

PMID:
25246103
[PubMed - in process]
Free PMC Article
11.

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.

Campbell IM, Stewart JR, James RA, Lupski JR, Stankiewicz P, Olofsson P, Shaw CA.

Am J Hum Genet. 2014 Oct 2;95(4):345-59. doi: 10.1016/j.ajhg.2014.08.010. Epub 2014 Sep 18.

PMID:
25242496
[PubMed - in process]
12.

The evaluation of pain in amyotrophic lateral sclerosis: A case controlled observational study.

Wallace VC, Ellis CM, Burman R, Knights C, Shaw CE, Al-Chalabi A.

Amyotroph Lateral Scler Frontotemporal Degener. 2014 Sep 10:1-8. [Epub ahead of print]

PMID:
25204842
[PubMed - as supplied by publisher]
13.

Reduction of ring artifacts in CBCT: detection and correction of pixel gain variations in flat panel detectors.

Altunbas C, Lai CJ, Zhong Y, Shaw CC.

Med Phys. 2014 Sep;41(9):091913. doi: 10.1118/1.4893278.

PMID:
25186400
[PubMed - in process]
14.

Ranakinestatin-PPF from the skin secretion of the Fukien gold-striped pond frog, Pelophylax plancyi fukienensis: a prototype of a novel class of bradykinin B2 receptor antagonist peptide from ranid frogs.

Ma J, Luo Y, Ge L, Wang L, Zhou M, Zhang Y, Duan J, Chen T, Shaw C.

ScientificWorldJournal. 2014 Apr 9;2014:564839. doi: 10.1155/2014/564839. eCollection 2014.

PMID:
25161395
[PubMed - in process]
Free PMC Article
15.

Improving immunogenicity and efficacy of vaccines for genital herpes containing herpes simplex virus glycoprotein D.

Awasthi S, Shaw C, Friedman H.

Expert Rev Vaccines. 2014 Dec;13(12):1475-88. doi: 10.1586/14760584.2014.951336. Epub 2014 Aug 20.

PMID:
25138572
[PubMed - in process]
16.

NetComm: a network analysis tool based on communicability.

Campbell IM, James RA, Chen ES, Shaw CA.

Bioinformatics. 2014 Aug 13. pii: btu536. [Epub ahead of print]

PMID:
25123899
[PubMed - as supplied by publisher]
17.

Reduction in hSOD1 copy number significantly impacts ALS phenotype presentation in G37R (line 29) mice: implications for the assessment of putative therapeutic agents.

Zwiegers P, Lee G, Shaw CA.

J Negat Results Biomed. 2014 Aug 8;13:14. doi: 10.1186/1477-5751-13-14.

PMID:
25103619
[PubMed - in process]
Free PMC Article
18.

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P.

Am J Hum Genet. 2014 Aug 7;95(2):173-82. doi: 10.1016/j.ajhg.2014.07.003. Epub 2014 Jul 31.

PMID:
25087610
[PubMed - indexed for MEDLINE]
19.

A monomeric uncleaved respiratory syncytial virus F antigen retains prefusion-specific neutralizing epitopes.

Swanson KA, Balabanis K, Xie Y, Aggarwal Y, Palomo C, Mas V, Metrick C, Yang H, Shaw CA, Melero JA, Dormitzer PR, Carfi A.

J Virol. 2014 Oct;88(20):11802-10. doi: 10.1128/JVI.01225-14. Epub 2014 Jul 30.

PMID:
25078705
[PubMed - in process]
20.

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR.

Am J Hum Genet. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24.

PMID:
25065914
[PubMed - indexed for MEDLINE]

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