BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

103 related articles for article (PubMed ID: 30384130)

  • 1. Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene.
    Machuca C; Vilches A; Clemente E; Pascual-Pascual SI; Bolinches-Amorós A; Artero Castro A; Espinos C; Leon M; Jendelova P; Erceg S
    Stem Cell Res; 2018 Dec; 33():166-170. PubMed ID: 30384130
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.
    Arellano CM; Vilches A; Clemente E; Pascual-Pascual SI; Bolinches-Amorós A; Castro AA; Espinos C; Rodriguez ML; Jendelova P; Erceg S
    Stem Cell Res; 2018 Aug; 31():249-252. PubMed ID: 30144656
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene.
    Lukovic D; Bolinches-Amorós A; Artero-Castro A; Pascual B; Carballo M; Hernan I; Erceg S
    Stem Cell Res; 2017 May; 21():23-25. PubMed ID: 28677533
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene.
    Bolinches-Amorós A; Lukovic D; Castro AA; León M; Kamenarova K; Kaneva R; Jendelova P; Blanco-Kelly F; Ayuso C; Cortón M; Erceg S
    Stem Cell Res; 2018 Apr; 28():96-99. PubMed ID: 29453128
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.
    Machuca C; Correa-Vela M; García-Navas D; Darling A; Villalón-García I; Sánchez-Alcázar JA; Pérez-Dueñas B; Erceg S; Espinós C
    Stem Cell Res; 2021 May; 53():102338. PubMed ID: 34087982
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Sánchez MG; Pérez JE; Pérez MR; Redondo AG
    J Neurol Sci; 2015 Nov; 358(1-2):475-6. PubMed ID: 26344561
    [No Abstract]   [Full Text] [Related]  

  • 7. Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Mercier J; Prévost C; Engert JC; Bouchard JP; Mathieu J; Richter A
    Genet Test; 2001; 5(3):255-9. PubMed ID: 11788093
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient.
    Vallejo-Diez S; Fleischer A; Martín-Fernández JM; Sánchez-Gilabert A; Bachiller D
    Stem Cell Res; 2018 Dec; 33():180-184. PubMed ID: 30408744
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Generation of iPSC line from desmin-related cardiomyopathy patient carrying splice site mutation of DES gene.
    Khudiakov A; Kostina D; Zlotina A; Nikulina T; Sergushichev A; Gudkova A; Tomilin A; Malashicheva A; Kostareva A
    Stem Cell Res; 2017 Oct; 24():77-80. PubMed ID: 29034897
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
    Grieco GS; Malandrini A; Comanducci G; Leuzzi V; Valoppi M; Tessa A; Palmeri S; Benedetti L; Pierallini A; Gambelli S; Federico A; Pierelli F; Bertini E; Casali C; Santorelli FM
    Neurology; 2004 Jan; 62(1):103-6. PubMed ID: 14718707
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Generation of iPSC line from patient with arrhythmogenic right ventricular cardiomyopathy carrying mutations in PKP2 gene.
    Khudiakov A; Kostina D; Zlotina A; Yany N; Sergushichev A; Pervunina T; Tomilin A; Kostareva A; Malashicheva A
    Stem Cell Res; 2017 Oct; 24():85-88. PubMed ID: 29034900
    [TBL] [Abstract][Full Text] [Related]  

  • 12. In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
    Louit A; Beaudet MJ; Blais M; Gros-Louis F; Dupré N; Berthod F
    Stem Cells Int; 2023; 2023():1496597. PubMed ID: 37096129
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.
    Bradshaw TY; Romano LE; Duncan EJ; Nethisinghe S; Abeti R; Michael GJ; Giunti P; Vermeer S; Chapple JP
    Hum Mol Genet; 2016 Aug; 25(15):3232-3244. PubMed ID: 27288452
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon.
    Ouyang Y; Takiyama Y; Sakoe K; Shimazaki H; Ogawa T; Nagano S; Yamamoto Y; Nakano I
    Neurology; 2006 Apr; 66(7):1103-4. PubMed ID: 16606928
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation.
    Calado SM; Garcia-Delgado AB; De la Cerda B; Ponte-Zuñiga B; Bhattacharya SS; Díaz-Corrales FJ
    Stem Cell Res; 2018 Dec; 33():251-254. PubMed ID: 30471616
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.
    Krygier M; Konkel A; Schinwelski M; Rydzanicz M; Walczak A; Sildatke-Bauer M; Płoski R; Sławek J
    Neurol Neurochir Pol; 2017; 51(6):481-485. PubMed ID: 28843771
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Generation and characterization of the human iPSC line PBMC1-iPS4F1 from adult peripheral blood mononuclear cells.
    Montes R; Romero T; Cabrera S; Ayllon V; Lopez-Escamez JA; Ramos-Mejia V; Real PJ
    Stem Cell Res; 2015 Nov; 15(3):614-7. PubMed ID: 26987924
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.
    Galera-Monge T; Zurita-Díaz F; Moreno-Izquierdo A; Fraga MF; Fernández AF; Ayuso C; Garesse R; Gallardo ME
    Stem Cell Res; 2016 May; 16(3):673-6. PubMed ID: 27346197
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Generation of iPSC line HEL47.2 from healthy human adult fibroblasts.
    Trokovic R; Weltner J; Otonkoski T
    Stem Cell Res; 2015 Jul; 15(1):263-5. PubMed ID: 26096151
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene.
    Marote A; Pomeshchik Y; Goldwurm S; Collin A; Lamas NJ; Pinto L; Salgado AJ; Roybon L
    Stem Cell Res; 2018 Mar; 27():90-94. PubMed ID: 29353703
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.