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Items: 1 to 20 of 113

1.

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC.

Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.

2.

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F.

Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23.

3.

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K.

Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2.

4.

Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

Schwabova J, Brozkova DS, Petrak B, Mojzisova M, Pavlickova K, Haberlova J, Mrazkova L, Hedvicakova P, Hornofova L, Kaluzova M, Fencl F, Krutova M, Zamecnik J, Seeman P.

J Neurogenet. 2013 Dec;27(4):163-9. doi: 10.3109/01677063.2013.814651. Epub 2013 Jul 25.

PMID:
23883322
5.

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Zanni G, Scotton C, Passarelli C, Fang M, Barresi S, Dallapiccola B, Wu B, Gualandi F, Ferlini A, Bertini E, Wei W.

Neurogenetics. 2013 Nov;14(3-4):247-50. doi: 10.1007/s10048-013-0371-z. Epub 2013 Aug 24.

PMID:
23975261
6.

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.

Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM.

J Neurol. 2013 Jul;260(7):1866-70. doi: 10.1007/s00415-013-6896-0. Epub 2013 Apr 7.

PMID:
23564332
7.

Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.

Kasher PR, Namavar Y, van Tijn P, Fluiter K, Sizarov A, Kamermans M, Grierson AJ, Zivkovic D, Baas F.

Hum Mol Genet. 2011 Apr 15;20(8):1574-84. doi: 10.1093/hmg/ddr034. Epub 2011 Jan 27.

8.

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.

Halevy A, Lerer I, Cohen R, Kornreich L, Shuper A, Gamliel M, Zimerman BE, Korabi I, Meiner V, Straussberg R, Lossos A.

J Neurol. 2014 Nov;261(11):2165-9. doi: 10.1007/s00415-014-7457-x. Epub 2014 Aug 23.

PMID:
25149867
9.

[Pontocerebellar hypoplasia type 1: a case report].

Gómez-Lado C, Landín-Iglesias G, Pintos-Martínez E, Pastor-Benavent N, Eirís-Puñal J, Castro-Gago M.

Rev Neurol. 2007 Mar 1-15;44(5):281-4. Spanish.

10.

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors.

Fabre A, Badens C.

Intractable Rare Dis Res. 2014 Feb;3(1):8-11. doi: 10.5582/irdr.3.8. Review.

11.

Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.

Kastrissianakis K, Anand G, Quaghebeur G, Price S, Prabhakar P, Marinova J, Brown G, McShane T.

Arch Dis Child. 2013 Dec;98(12):1004-7. doi: 10.1136/archdischild-2013-304308. Epub 2013 Sep 18.

PMID:
24047924
12.

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R.

Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287.

13.

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.

Bierhals T, Korenke GC, Uyanik G, Kutsche K.

Eur J Med Genet. 2013 Jun;56(6):325-30. doi: 10.1016/j.ejmg.2013.03.009. Epub 2013 Apr 3. Review.

PMID:
23562994
14.

Pontocerebellar hypoplasia type 3 with tetralogy of Fallot.

Jinnou H, Okanishi T, Enoki H, Ohki S.

Brain Dev. 2012 May;34(5):392-5. doi: 10.1016/j.braindev.2011.07.011. Epub 2011 Aug 30.

PMID:
21880448
15.

Familial infantile olivopontocerebellar atrophy.

Bawle EV, Kupsky WJ, D'Amato CJ, Becker CJ, Hicks S.

Pediatr Neurol. 1995 Jul;13(1):14-8.

PMID:
7575842
16.

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

Giunta M, Edvardson S, Xu Y, Schuelke M, Gomez-Duran A, Boczonadi V, Elpeleg O, Müller JS, Horvath R.

Hum Mol Genet. 2016 May 18. pii: ddw149. [Epub ahead of print]

17.

Pontocerebellar hypoplasia associated with respiratory-chain defects.

de Koning TJ, de Vries LS, Groenendaal F, Ruitenbeek W, Jansen GH, Poll-The BT, Barth PG.

Neuropediatrics. 1999 Apr;30(2):93-5.

PMID:
10401692
18.

Pontocerebellar hypoplasia in two siblings with dysmorphic features.

Dilber E, Aynaci FM, Ahmetoglu A.

J Child Neurol. 2002 Jan;17(1):64-6.

PMID:
11913577
19.

Familial pontocerebellar hypoplasia type I with anterior horn cell disease.

Görgen-Pauly U, Sperner J, Reiss I, Gehl HB, Reusche E.

Eur J Paediatr Neurol. 1999;3(1):33-8.

PMID:
10727190
20.

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.

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