Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 45

1.

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ.

Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21.

PMID:
21944779
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R.

Neuron. 2011 Oct 20;72(2):245-56. doi: 10.1016/j.neuron.2011.09.011. Epub 2011 Sep 21.

PMID:
21944778
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Namavar Y, Barth PG, Poll-The BT, Baas F.

Orphanet J Rare Dis. 2011 Jul 12;6:50. doi: 10.1186/1750-1172-6-50. Review.

PMID:
21749694
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.

Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Liu W, Okuda H, Koizumi A.

Am J Hum Genet. 2011 Jul 15;89(1):121-30. doi: 10.1016/j.ajhg.2011.05.015. Epub 2011 Jun 16.

PMID:
21683323
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

RNA exosome. Preface.

Jensen TH.

Adv Exp Med Biol. 2010;702:v-vi. No abstract available.

PMID:
21618869
[PubMed - indexed for MEDLINE]
6.

TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.

Simonati A, Cassandrini D, Bazan D, Santorelli FM.

Acta Neuropathol. 2011 May;121(5):671-3. doi: 10.1007/s00401-011-0823-1. Epub 2011 Apr 6. No abstract available.

PMID:
21468723
[PubMed - indexed for MEDLINE]
7.

Searching NCBI's dbSNP database.

Bhagwat M.

Curr Protoc Bioinformatics. 2010 Dec;Chapter 1:Unit 1.19. doi: 10.1002/0471250953.bi0119s32.

PMID:
21154707
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

PMID:
20981092
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium, Dobyns WB, Baas F, Poll-The BT.

Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15.

PMID:
20952379
[PubMed - indexed for MEDLINE]
Free Article
10.

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.

Rankin J, Brown R, Dobyns WB, Harington J, Patel J, Quinn M, Brown G.

Am J Med Genet A. 2010 Aug;152A(8):2079-84. doi: 10.1002/ajmg.a.33531.

PMID:
20635367
[PubMed - indexed for MEDLINE]
11.

Autopsy case of later-onset pontocerebellar hypoplasia type 1: pontine atrophy and pyramidal tract involvement.

Sanefuji M, Kira R, Matsumoto K, Gondo K, Torisu H, Kawakami H, Iwaki T, Hara T.

J Child Neurol. 2010 Nov;25(11):1429-34. doi: 10.1177/0883073810372991. Epub 2010 Jun 17.

PMID:
20558670
[PubMed - indexed for MEDLINE]
12.

Proneural gene-linked neurogenesis in zebrafish cerebellum.

Kani S, Bae YK, Shimizu T, Tanabe K, Satou C, Parsons MJ, Scott E, Higashijima S, Hibi M.

Dev Biol. 2010 Jul 1;343(1-2):1-17. doi: 10.1016/j.ydbio.2010.03.024. Epub 2010 Apr 11.

PMID:
20388506
[PubMed - indexed for MEDLINE]
Free Article
13.

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.

Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E.

Am J Hum Genet. 2009 Aug;85(2):281-9. doi: 10.1016/j.ajhg.2009.07.006. Epub 2009 Jul 30.

PMID:
19646678
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.

Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, Cruz P, Hansen NF, Teer JK, Maskeri B, Young AC; NISC Comparative Sequencing Program, Manolio TA, Wilson AF, Finkel T, Hwang P, Arai A, Remaley AT, Sachdev V, Shamburek R, Cannon RO, Green ED.

Genome Res. 2009 Sep;19(9):1665-74. doi: 10.1101/gr.092841.109. Epub 2009 Jul 14.

PMID:
19602640
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.

Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE.

Science. 2009 Feb 27;323(5918):1208-11. doi: 10.1126/science.1165942.

PMID:
19251628
[PubMed - indexed for MEDLINE]
Free Article
16.

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr.

Science. 2009 Feb 27;323(5918):1205-8. doi: 10.1126/science.1166066.

PMID:
19251627
[PubMed - indexed for MEDLINE]
Free Article
17.

Hypotonia, weakness, and pontocerebellar hypoplasia in siblings.

Tsao CY, Mendell J, Sahenk Z, Rusin J, Boue D.

Semin Pediatr Neurol. 2008 Dec;15(4):151-3. doi: 10.1016/j.spen.2008.09.001.

PMID:
19073313
[PubMed - indexed for MEDLINE]
18.

RNA exosome depletion reveals transcription upstream of active human promoters.

Preker P, Nielsen J, Kammler S, Lykke-Andersen S, Christensen MS, Mapendano CK, Schierup MH, Jensen TH.

Science. 2008 Dec 19;322(5909):1851-4. doi: 10.1126/science.1164096. Epub 2008 Dec 4.

PMID:
19056938
[PubMed - indexed for MEDLINE]
Free Article
19.

Pontocerebellar hypoplasia type 1.

Szabó N, Szabó H, Hortobágyi T, Túri S, Sztriha L.

Pediatr Neurol. 2008 Oct;39(4):286-8. doi: 10.1016/j.pediatrneurol.2008.06.017.

PMID:
18805371
[PubMed - indexed for MEDLINE]
20.

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F.

Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.

PMID:
18711368
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk