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Items: 1 to 20 of 44

1.

The practical use of genome sequencing data in the management of a feline colony pedigree.

Farias FHG, Tomlinson C, Labuda J, Perez-Camargo G, Middleton R, Warren WC.

BMC Vet Res. 2017 Jul 27;13(1):225. doi: 10.1186/s12917-017-1144-y.

2.

Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.

Teoh HL, Carey K, Sampaio H, Mowat D, Roscioli T, Farrar M.

Neural Plast. 2017;2017:6509493. doi: 10.1155/2017/6509493. Epub 2017 May 28. Review.

3.

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

Tachmazidou I, Süveges D, Min JL, Ritchie GRS, Steinberg J, Walter K, Iotchkova V, Schwartzentruber J, Huang J, Memari Y, McCarthy S, Crawford AA, Bombieri C, Cocca M, Farmaki AE, Gaunt TR, Jousilahti P, Kooijman MN, Lehne B, Malerba G, Männistö S, Matchan A, Medina-Gomez C, Metrustry SJ, Nag A, Ntalla I, Paternoster L, Rayner NW, Sala C, Scott WR, Shihab HA, Southam L, St Pourcain B, Traglia M, Trajanoska K, Zaza G, Zhang W, Artigas MS, Bansal N, Benn M, Chen Z, Danecek P, Lin WY, Locke A, Luan J, Manning AK, Mulas A, Sidore C, Tybjaerg-Hansen A, Varbo A, Zoledziewska M, Finan C, Hatzikotoulas K, Hendricks AE, Kemp JP, Moayyeri A, Panoutsopoulou K, Szpak M, Wilson SG, Boehnke M, Cucca F, Di Angelantonio E, Langenberg C, Lindgren C, McCarthy MI, Morris AP, Nordestgaard BG, Scott RA, Tobin MD, Wareham NJ; SpiroMeta Consortium; GoT2D Consortium, Burton P, Chambers JC, Smith GD, Dedoussis G, Felix JF, Franco OH, Gambaro G, Gasparini P, Hammond CJ, Hofman A, Jaddoe VWV, Kleber M, Kooner JS, Perola M, Relton C, Ring SM, Rivadeneira F, Salomaa V, Spector TD, Stegle O, Toniolo D, Uitterlinden AG; arcOGEN Consortium; Understanding Society Scientific Group; UK10K Consortium, Barroso I, Greenwood CMT, Perry JRB, Walker BR, Butterworth AS, Xue Y, Durbin R, Small KS, Soranzo N, Timpson NJ, Zeggini E.

Am J Hum Genet. 2017 Jun 1;100(6):865-884. doi: 10.1016/j.ajhg.2017.04.014. Epub 2017 May 25.

4.

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage.

Jangi M, Fleet C, Cullen P, Gupta SV, Mekhoubad S, Chiao E, Allaire N, Bennett CF, Rigo F, Krainer AR, Hurt JA, Carulli JP, Staropoli JF.

Proc Natl Acad Sci U S A. 2017 Mar 21;114(12):E2347-E2356. doi: 10.1073/pnas.1613181114. Epub 2017 Mar 7.

5.

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

Delle Vedove A, Storbeck M, Heller R, Hölker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B.

Am J Hum Genet. 2016 Nov 3;99(5):1206-1216. doi: 10.1016/j.ajhg.2016.09.019. Epub 2016 Oct 27. Erratum in: Am J Hum Genet. 2016 Dec 1;99(6):1406-1408.

6.

Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent.

Shababi M, Feng Z, Villalon E, Sibigtroth CM, Osman EY, Miller MR, Williams-Simon PA, Lombardi A, Sass TH, Atkinson AK, Garcia ML, Ko CP, Lorson CL.

Mol Ther. 2016 May;24(5):855-66. doi: 10.1038/mt.2016.33. Epub 2016 Feb 10.

7.

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.

San Millan B, Fernandez JM, Navarro C, Reparaz A, Teijeira S.

Clin Neuropathol. 2016 Mar-Apr;35(2):58-65. doi: 10.5414/NP300902.

8.

Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model.

Nizzardo M, Simone C, Rizzo F, Salani S, Dametti S, Rinchetti P, Del Bo R, Foust K, Kaspar BK, Bresolin N, Comi GP, Corti S.

Sci Adv. 2015 Mar 13;1(2):e1500078. doi: 10.1126/sciadv.1500078. eCollection 2015 Mar.

9.

Saccharomyces cerevisiae Sen1 Helicase Domain Exhibits 5'- to 3'-Helicase Activity with a Preference for Translocation on DNA Rather than RNA.

Martin-Tumasz S, Brow DA.

J Biol Chem. 2015 Sep 18;290(38):22880-9. doi: 10.1074/jbc.M115.674002. Epub 2015 Jul 20.

10.

Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation.

Shi CH, Song B, Luo HY, Mao CY, Shang DD, Cao Y, Sun SL, Wu J, Zhuang ZP, Xu YM.

Neurology. 2015 Jul 28;85(4):383-4. doi: 10.1212/WNL.0000000000001747. Epub 2015 Jul 1. No abstract available.

11.

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.

Vanoli F, Rinchetti P, Porro F, Parente V, Corti S.

J Cell Mol Med. 2015 Sep;19(9):2058-66. doi: 10.1111/jcmm.12606. Epub 2015 Jun 20. Review.

12.

Helicases and human diseases.

Uchiumi F, Seki M, Furuichi Y.

Front Genet. 2015 Feb 12;6:39. doi: 10.3389/fgene.2015.00039. eCollection 2015. No abstract available.

13.

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H.

Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30.

14.

The Genetics of Spinal Muscular Atrophy: Progress and Challenges.

Farrar MA, Kiernan MC.

Neurotherapeutics. 2015 Apr;12(2):290-302. doi: 10.1007/s13311-014-0314-x. Review.

15.

iPSC-Derived neural stem cells act via kinase inhibition to exert neuroprotective effects in spinal muscular atrophy with respiratory distress type 1.

Simone C, Nizzardo M, Rizzo F, Ruggieri M, Riboldi G, Salani S, Bucchia M, Bresolin N, Comi GP, Corti S.

Stem Cell Reports. 2014 Aug 12;3(2):297-311. doi: 10.1016/j.stemcr.2014.06.004. Epub 2014 Jul 4.

16.

Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Gerstberger S, Hafner M, Ascano M, Tuschl T.

Adv Exp Med Biol. 2014;825:1-55. doi: 10.1007/978-1-4939-1221-6_1. Review.

17.

Differentiation defects in primary motoneurons from a SMARD1 mouse model that are insensitive to treatment with low dose PEGylated IGF1.

Krieger F, Metzger F, Jablonka S.

Rare Dis. 2014 Jun 10;2:e29415. doi: 10.4161/rdis.29415. eCollection 2014.

18.

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.

Peeters K, Chamova T, Jordanova A.

Brain. 2014 Nov;137(Pt 11):2879-96. doi: 10.1093/brain/awu169. Epub 2014 Jun 25. Review.

19.

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.

Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ.

Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19.

20.

Genetics of amyotrophic lateral sclerosis: an update.

Chen S, Sayana P, Zhang X, Le W.

Mol Neurodegener. 2013 Aug 13;8:28. doi: 10.1186/1750-1326-8-28. Review.

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