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Items: 1 to 20 of 22

1.

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S.

Am J Hum Genet. 2011 Aug 12;89(2):308-12. doi: 10.1016/j.ajhg.2011.07.002. Epub 2011 Aug 4.

2.

Neuronal migration defects in the Loa dynein mutant mouse.

Ori-McKenney KM, Vallee RB.

Neural Dev. 2011 May 25;6:26. doi: 10.1186/1749-8104-6-26.

3.

Efficient and cost effective population resequencing by pooling and in-solution hybridization.

Bansal V, Tewhey R, Leproust EM, Schork NJ.

PLoS One. 2011 Mar 30;6(3):e18353. doi: 10.1371/journal.pone.0018353.

4.

Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy.

Mentis GZ, Blivis D, Liu W, Drobac E, Crowder ME, Kong L, Alvarez FJ, Sumner CJ, O'Donovan MJ.

Neuron. 2011 Feb 10;69(3):453-67. doi: 10.1016/j.neuron.2010.12.032.

5.

A cytoplasmic dynein tail mutation impairs motor processivity.

Ori-McKenney KM, Xu J, Gross SP, Vallee RB.

Nat Cell Biol. 2010 Dec;12(12):1228-34. doi: 10.1038/ncb2127. Epub 2010 Nov 21.

6.

A de novo paradigm for mental retardation.

Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA.

Nat Genet. 2010 Dec;42(12):1109-12. doi: 10.1038/ng.712. Epub 2010 Nov 14.

PMID:
21076407
7.

Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.

Harms MB, Allred P, Gardner R Jr, Fernandes Filho JA, Florence J, Pestronk A, Al-Lozi M, Baloh RH.

Neurology. 2010 Aug 10;75(6):539-46. doi: 10.1212/WNL.0b013e3181ec800c.

8.

Spinal muscular atrophy: mechanisms and therapeutic strategies.

Lorson CL, Rindt H, Shababi M.

Hum Mol Genet. 2010 Apr 15;19(R1):R111-8. doi: 10.1093/hmg/ddq147. Epub 2010 Apr 13. Review.

9.

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, Strohmaier H, Lochmüller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C.

Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27.

10.

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

Deng HX, Klein CJ, Yan J, Shi Y, Wu Y, Fecto F, Yau HJ, Yang Y, Zhai H, Siddique N, Hedley-Whyte ET, Delong R, Martina M, Dyck PJ, Siddique T.

Nat Genet. 2010 Feb;42(2):165-9. doi: 10.1038/ng.509. Epub 2009 Dec 27.

11.

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ.

Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27.

12.

The Sequence Alignment/Map format and SAMtools.

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R; 1000 Genome Project Data Processing Subgroup.

Bioinformatics. 2009 Aug 15;25(16):2078-9. doi: 10.1093/bioinformatics/btp352. Epub 2009 Jun 8.

13.

Current hypotheses for the underlying biology of amyotrophic lateral sclerosis.

Rothstein JD.

Ann Neurol. 2009 Jan;65 Suppl 1:S3-9. doi: 10.1002/ana.21543. Review.

PMID:
19191304
14.

Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic Dynein heavy chain 1 gene.

Chen XJ, Levedakou EN, Millen KJ, Wollmann RL, Soliven B, Popko B.

J Neurosci. 2007 Dec 26;27(52):14515-24.

15.

The dynein family at a glance.

Höök P, Vallee RB.

J Cell Sci. 2006 Nov 1;119(Pt 21):4369-71. Review. No abstract available.

16.

Dynein mutations impair autophagic clearance of aggregate-prone proteins.

Ravikumar B, Acevedo-Arozena A, Imarisio S, Berger Z, Vacher C, O'Kane CJ, Brown SD, Rubinsztein DC.

Nat Genet. 2005 Jul;37(7):771-6. Epub 2005 Jun 26.

PMID:
15980862
17.

Altered sensorimotor development in a transgenic mouse model of amyotrophic lateral sclerosis.

Amendola J, Verrier B, Roubertoux P, Durand J.

Eur J Neurosci. 2004 Nov;20(10):2822-6.

PMID:
15548226
18.

No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders.

Ahmad-Annuar A, Shah P, Hafezparast M, Hummerich H, Witherden AS, Morrison KE, Shaw PJ, Kirby J, Warner TT, Crosby A, Proukakis C, Wilkinson P, Orrell RW, Bradley L, Martin JE, Fisher EM.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):150-7.

PMID:
13129801
19.

Mutations in dynein link motor neuron degeneration to defects in retrograde transport.

Hafezparast M, Klocke R, Ruhrberg C, Marquardt A, Ahmad-Annuar A, Bowen S, Lalli G, Witherden AS, Hummerich H, Nicholson S, Morgan PJ, Oozageer R, Priestley JV, Averill S, King VR, Ball S, Peters J, Toda T, Yamamoto A, Hiraoka Y, Augustin M, Korthaus D, Wattler S, Wabnitz P, Dickneite C, Lampel S, Boehme F, Peraus G, Popp A, Rudelius M, Schlegel J, Fuchs H, Hrabe de Angelis M, Schiavo G, Shima DT, Russ AP, Stumm G, Martin JE, Fisher EM.

Science. 2003 May 2;300(5620):808-12.

20.

Mutant dynactin in motor neuron disease.

Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH Jr, Ludlow CL, Fischbeck KH.

Nat Genet. 2003 Apr;33(4):455-6. Epub 2003 Mar 10.

PMID:
12627231
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