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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
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1990 2
1993 2
1995 2
1996 1
1997 1
1998 1
1999 3
2002 4
2003 2
2005 1
2006 1
2007 3
2008 1
2009 1
2010 4
2011 10
2012 9
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2017 7
2018 8
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Similar articles for PMID: 22544365

114 results

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Page 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. Wan J, et al. Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254. Nat Genet. 2012. PMID: 22544365 Free PMC article.
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. Eggens VR, et al. Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. Orphanet J Rare Dis. 2014. PMID: 24524299 Free PMC article.
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B).
François-Moutal L, Jahanbakhsh S, Nelson ADL, Ray D, Scott DD, Hennefarth MR, Moutal A, Perez-Miller S, Ambrose AJ, Al-Shamari A, Coursodon P, Meechoovet B, Reiman R, Lyons E, Beilstein M, Chapman E, Morris QD, Van Keuren-Jensen K, Hughes TR, Khanna R, Koehler C, Jen J, Gokhale V, Khanna M. François-Moutal L, et al. ACS Chem Biol. 2018 Oct 19;13(10):3000-3010. doi: 10.1021/acschembio.8b00745. Epub 2018 Sep 6. ACS Chem Biol. 2018. PMID: 30141626 Free PMC article.
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.
Ivanov I, Atkinson D, Litvinenko I, Angelova L, Andonova S, Mumdjiev H, Pacheva I, Panova M, Yordanova R, Belovejdov V, Petrova A, Bosheva M, Shmilev T, Savov A, Jordanova A. Ivanov I, et al. Eur J Paediatr Neurol. 2018 Jul;22(4):674-681. doi: 10.1016/j.ejpn.2018.03.011. Epub 2018 Apr 3. Eur J Paediatr Neurol. 2018. PMID: 29656927 Review.
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG. Burns DT, et al. Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011. Am J Hum Genet. 2018. PMID: 29727687 Free PMC article.
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. Rudnik-Schöneborn S, et al. Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2. Neurology. 2013. PMID: 23284067 Free PMC article.
114 results