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Items: 1 to 20 of 172

1.

Fanconi anemia: correlating central nervous system malformations and genetic complementation groups.

Johnson-Tesch BA, Gawande RS, Zhang L, MacMillan ML, Nascene DR.

Pediatr Radiol. 2017 Mar 10. doi: 10.1007/s00247-017-3817-x. [Epub ahead of print]

PMID:
28283722
2.

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

Marsh AP, Yap P, Tan T, Pope K, White SM, Chong B, Mcgillivray G, Boys A, Stephenson SE, Leventer RJ, Stark Z, Lockhart PJ.

Am J Med Genet A. 2017 Mar;173(3):820-823. doi: 10.1002/ajmg.a.38076. No abstract available.

PMID:
28168832
3.

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG.

Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762.

PMID:
28092684
4.

Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria.

Steffen J, Vashisht AA, Wan J, Jen JC, Claypool SM, Wohlschlegel JA, Koehler CM.

Mol Biol Cell. 2017 Mar 1;28(5):600-612. doi: 10.1091/mbc.E16-07-0545.

PMID:
28057766
5.

Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae.

Gillespie A, Gabunilas J, Jen JC, Chanfreau GF.

RNA. 2017 Apr;23(4):466-472. doi: 10.1261/rna.060004.116.

6.

[Familial EXOSC3-related pontocerebellar hypoplasia].

Di Giovambattista AP, Jácome Querejeta I, Ventura Faci P, Rodríguez Martínez G, Ramos Fuentes F.

An Pediatr (Barc). 2016 Nov 19. pii: S1695-4033(16)30271-5. doi: 10.1016/j.anpedi.2016.09.011. [Epub ahead of print] Spanish. No abstract available.

7.

A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.

van Dijk T, Barth P, Reneman L, Appelhof B, Baas F, Poll-The BT.

Am J Med Genet A. 2017 Jan;173(1):207-212. doi: 10.1002/ajmg.a.37962.

PMID:
27862915
8.

Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast.

Fasken MB, Losh JS, Leung SW, Brutus S, Avin B, Vaught JC, Potter-Birriel J, Craig T, Conn GL, Mills-Lujan K, Corbett AH, van Hoof A.

Genetics. 2017 Jan;205(1):221-237. doi: 10.1534/genetics.116.195917.

PMID:
27777260
9.

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.

Lühl S, Bode H, Schlötzer W, Bartsakoulia M, Horvath R, Abicht A, Stenzel M, Kirschner J, Grünert SC.

Orphanet J Rare Dis. 2016 Oct 21;11(1):140.

10.

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

van Dijk T, van Ruissen F, Jaeger B, Rodenburg RJ, Tamminga S, van Maarle M, Baas F, Wolf NI, Poll-The BT.

JIMD Rep. 2016 Sep 29. [Epub ahead of print]

PMID:
27683254
11.

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG.

Am J Hum Genet. 2016 Sep 1;99(3):785. doi: 10.1016/j.ajhg.2016.08.009. No abstract available.

12.

Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype?

Samanta D, Willis E.

Ann Indian Acad Neurol. 2016 Jul-Sep;19(3):385-7. doi: 10.4103/0972-2327.168629.

13.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC.

Brain. 2016 Aug 20. pii: aww212. [Epub ahead of print]

PMID:
27543974
14.

Brain morphometry in Pontocerebellar Hypoplasia type 2.

Ekert K, Groeschel S, Sánchez-Albisua I, Frölich S, Dieckmann A, Engel C, Krägeloh-Mann I.

Orphanet J Rare Dis. 2016 Jul 19;11(1):100. doi: 10.1186/s13023-016-0481-4.

15.

<i>TSEN54</i>-Related Pontocerebellar Hypoplasia.

Namavar Y, Eggens VRC, Barth PG, Baas F.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2009 Sep 8 [updated 2016 Jul 14].

16.

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG.

Am J Hum Genet. 2016 Jul 7;99(1):228-35. doi: 10.1016/j.ajhg.2016.05.023.

17.

Pontocerebellar hypoplasia, malignant hyperthermia, and inappropriate use of secondary references.

Balbi KE, Taicher BM, Litman RS.

Paediatr Anaesth. 2016 Aug;26(8):857-8. doi: 10.1111/pan.12946. No abstract available.

PMID:
27370523
18.

Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.

Stoll M, Teoh H, Lee J, Reddel S, Zhu Y, Buckley M, Sampaio H, Roscioli T, Farrar M, Nicholson G.

Neurology. 2016 Jul 5;87(1):65-70. doi: 10.1212/WNL.0000000000002813.

19.

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.

Micalizzi A, Moroni I, Ginevrino M, Biagini T, Mazza T, Romani M, Valente EM.

Neurogenetics. 2016 Jul;17(3):191-5. doi: 10.1007/s10048-016-0488-y.

PMID:
27251579
20.

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 Jul 15;25(14):2985-2996.

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