BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

221 related articles for article (PubMed ID: 23284067)

  • 1. 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; 80(5):438-46. PubMed ID: 23284067
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    Eur J Paediatr Neurol; 2018 Jul; 22(4):674-681. PubMed ID: 29656927
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 9():23. PubMed ID: 24524299
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 23883322
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.
    Pinto MM; Monges S; Malfatti E; Lubieniecki F; Lornage X; Alias L; Labasse C; Madelaine A; Fardeau M; Laporte J; Tizzano EF; Romero NB
    Muscle Nerve; 2019 Jan; 59(1):137-141. PubMed ID: 30025162
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.
    Schottmann G; Picker-Minh S; Schwarz JM; Gill E; Rodenburg RJT; Stenzel W; Kaindl AM; Schuelke M
    Mitochondrion; 2017 Nov; 37():46-54. PubMed ID: 28687512
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 44(6):704-8. PubMed ID: 22544365
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 23564332
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Expanded PCH1D phenotype linked to EXOSC9 mutation.
    Bizzari S; Hamzeh AR; Mohamed M; Al-Ali MT; Bastaki F
    Eur J Med Genet; 2020 Jan; 63(1):103622. PubMed ID: 30690203
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    ACS Chem Biol; 2018 Oct; 13(10):3000-3010. PubMed ID: 30141626
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
    Sakamoto M; Iwama K; Sekiguchi F; Mashimo H; Kumada S; Ishigaki K; Okamoto N; Behnam M; Ghadami M; Koshimizu E; Miyatake S; Mitsuhashi S; Mizuguchi T; Takata A; Saitsu H; Miyake N; Matsumoto N
    J Hum Genet; 2021 Apr; 66(4):401-407. PubMed ID: 33040083
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement.
    Le Duc D; Horn S; Jamra RA; Schaper J; Wieczorek D; Redler S
    Eur J Med Genet; 2020 Feb; 63(2):103649. PubMed ID: 30986545
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in
    Gillespie A; Gabunilas J; Jen JC; Chanfreau GF
    RNA; 2017 Apr; 23(4):466-472. PubMed ID: 28053271
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form.
    Mu W; Heller T; Barañano KW
    BMJ Case Rep; 2021 Jan; 14(1):. PubMed ID: 33462000
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 25149867
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 27777260
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 23562994
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 23975261
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
    Battini R; D'Arrigo S; Cassandrini D; Guzzetta A; Fiorillo C; Pantaleoni C; Romano A; Alfei E; Cioni G; Santorelli FM
    J Child Neurol; 2014 Apr; 29(4):520-5. PubMed ID: 23307886
    [TBL] [Abstract][Full Text] [Related]  

  • 20. New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.
    Rodríguez-García ME; Cotrina-Vinagre FJ; Bellusci M; Merino-López A; Chumilla-Calzada S; García-Silva MT; Martínez-Azorín F
    Neuromuscul Disord; 2021 Aug; 31(8):773-782. PubMed ID: 34210538
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.