These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 38020204)

  • 1. CRISPR/Cas9 Genome Editing in LGMD2A/R1 Patient-Derived Induced Pluripotent Stem and Skeletal Muscle Progenitor Cells.
    Mavrommatis L; Zaben A; Kindler U; Kienitz MC; Dietz J; Jeong HW; Böhme P; Brand-Saberi B; Vorgerd M; Zaehres H
    Stem Cells Int; 2023; 2023():9246825. PubMed ID: 38020204
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy.
    Selvaraj S; Dhoke NR; Kiley J; Mateos-Aierdi AJ; Tungtur S; Mondragon-Gonzalez R; Killeen G; Oliveira VKP; López de Munain A; Perlingeiro RCR
    Mol Ther; 2019 Dec; 27(12):2147-2157. PubMed ID: 31501033
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
    Pathak P; Sharma MC; Jha P; Sarkar C; Faruq M; Jha P; Suri V; Bhatia R; Singh S; Gulati S; Husain M
    J Neuromuscul Dis; 2021; 8(1):125-136. PubMed ID: 33337384
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with
    Lasa-Elgarresta J; Mosqueira-Martín L; Naldaiz-Gastesi N; Sáenz A; López de Munain A; Vallejo-Illarramendi A
    Int J Mol Sci; 2019 Sep; 20(18):. PubMed ID: 31540302
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb-Girdel Muscular Dystropy Model.
    Ma HS; Gong XL; Li WX; Cai Q; Chen YW; Guo XB; Ren ZR; Zeng F; Yan JB
    Clin Genet; 2023 Jun; 103(6):663-671. PubMed ID: 36999564
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Patient-specific iPSC-derived cellular models of LGMDR1.
    Mateos-Aierdi AJ; Dehesa-Etxebeste M; Goicoechea M; Aiastui A; Richaud-Patin Y; Jiménez-Delgado S; Raya A; Naldaiz-Gastesi N; López de Munain A
    Stem Cell Res; 2021 May; 53():102333. PubMed ID: 33862537
    [TBL] [Abstract][Full Text] [Related]  

  • 7. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
    Barp A; Laforet P; Bello L; Tasca G; Vissing J; Monforte M; Ricci E; Choumert A; Stojkovic T; Malfatti E; Pegoraro E; Semplicini C; Stramare R; Scheidegger O; Haberlova J; Straub V; Marini-Bettolo C; Løkken N; Diaz-Manera J; Urtizberea JA; Mercuri E; Kynčl M; Walter MC; Carlier RY
    J Neurol; 2020 Jan; 267(1):45-56. PubMed ID: 31555977
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
    Hermanová M; Zapletalová E; Sedlácková J; Chrobáková T; Letocha O; Kroupová I; Zámecník J; Vondrácek P; Mazanec R; Maríková T; Vohánka S; Fajkusová L
    Muscle Nerve; 2006 Mar; 33(3):424-32. PubMed ID: 16372320
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients.
    Hanisch F; Müller CR; Grimm D; Xue L; Traufeller K; Merkenschlager A; Zierz S; Deschauer M
    Clin Neuropathol; 2007; 26(4):157-63. PubMed ID: 17702496
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
    Blázquez L; Azpitarte M; Sáenz A; Goicoechea M; Otaegui D; Ferrer X; Illa I; Gutierrez-Rivas E; Vilchez JJ; López de Munain A
    Neurogenetics; 2008 Jul; 9(3):173-82. PubMed ID: 18563459
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Divergent Features of Mitochondrial Deficiencies in LGMD2A Associated With Novel Calpain-3 Mutations.
    El-Khoury R; Traboulsi S; Hamad T; Lamaa M; Sawaya R; Ahdab-Barmada M
    J Neuropathol Exp Neurol; 2019 Jan; 78(1):88-98. PubMed ID: 30500922
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Muscle pathology in 31 patients with calpain 3 gene mutations.
    Nadaj-Pakleza AA; Dorobek M; Nestorowicz K; Ryniewicz B; Szmidt-Sałkowska E; Kamińska AM
    Neurol Neurochir Pol; 2013; 47(3):214-22. PubMed ID: 23821418
    [TBL] [Abstract][Full Text] [Related]  

  • 13. cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
    Duno M; Sveen ML; Schwartz M; Vissing J
    Eur J Hum Genet; 2008 Aug; 16(8):935-40. PubMed ID: 18337726
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.
    Wang CH; Liang WC; Minami N; Nishino I; Jong YJ
    Pediatr Neonatol; 2015 Feb; 56(1):62-5. PubMed ID: 23597518
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.
    Casas-Fraile L; Cornelis FM; Costamagna D; Rico A; Duelen R; Sampaolesi MM; López de Munain A; Lories RJ; Sáenz A
    Orphanet J Rare Dis; 2020 May; 15(1):119. PubMed ID: 32448375
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Calpain-3 mutations in Turkey.
    Balci B; Aurino S; Haliloglu G; Talim B; Erdem S; Akcören Z; Tan E; Caglar M; Richard I; Nigro V; Topaloglu H; Dincer P
    Eur J Pediatr; 2006 May; 165(5):293-8. PubMed ID: 16411092
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.
    Zhong H; Zheng Y; Zhao Z; Lin P; Xi J; Zhu W; Lin J; Lu J; Yu M; Zhang W; Lv H; Yan C; Hu J; Wang Z; Lu J; Zhao C; Yuan Y; Luo S
    J Med Genet; 2021 Nov; 58(11):729-736. PubMed ID: 32994280
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients.
    Macias A; Fichna JP; Topolewska M; Rȩdowicz MJ; Kaminska AM; Kostera-Pruszczyk A
    Front Neurosci; 2021; 15():692482. PubMed ID: 34720847
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Compound heterozygous
    Zhang C; Zheng X; Lu D; Xu L; Che F; Liu S
    Mol Med Rep; 2021 Jun; 23(6):. PubMed ID: 33899113
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cas9-induced single cut enables highly efficient and template-free repair of a muscular dystrophy causing founder mutation.
    Müthel S; Marg A; Ignak B; Kieshauer J; Escobar H; Stadelmann C; Spuler S
    Mol Ther Nucleic Acids; 2023 Mar; 31():494-511. PubMed ID: 36865086
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.