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 *

136 related articles for article (PubMed ID: 34481439)

  • 1. [Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family].
    Golikova PI; Petukhova DA; Sukhomyasova AL; Nikolaeva TY; Gurinova EE; Ivanova RN; Maksimova NR
    Zh Nevrol Psikhiatr Im S S Korsakova; 2021; 121(8):71-76. PubMed ID: 34481439
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report.
    Sun G; Yao F; Tian Z; Ma T; Yang Z
    BMC Med Genet; 2018 Oct; 19(1):177. PubMed ID: 30285654
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
    Badilla-Porras R; Echeverri-McCandless A; Weimer JM; Ulate-Campos A; Soto-Rodríguez A; Gutiérrez-Mata A; Hernández-Con L; Bogantes-Ledezma S; Balmaceda-Meza A; Brudvig J; Sanabria-Castro A
    Orphanet J Rare Dis; 2022 Jan; 17(1):13. PubMed ID: 35012600
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.
    Chin JJ; Behnam B; Davids M; Sharma P; Zein WM; Wang C; Chepa-Lotrea X; Gallantine WB; Toro C; Adams DR; Tifft CJ; Gahl WA; Malicdan MCV
    Mol Genet Metab; 2019 Feb; 126(2):188-195. PubMed ID: 30528883
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.
    Li W; Fan X; Zhang Y; Huang L; Jiang T; Qin Z; Su J; Luo J; Yi S; Zhang S; Shen Y
    BMC Med Genet; 2020 May; 21(1):100. PubMed ID: 32393339
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation.
    Almeida MR; Macário MC; Ramos L; Baldeiras I; Ribeiro MH; Santana I
    Neurobiol Aging; 2016 May; 41():200.e1-200.e5. PubMed ID: 27021778
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in
    Katz ML; Buckley RM; Biegen V; O'Brien DP; Johnson GC; Warren WC; Lyons LA
    G3 (Bethesda); 2020 Aug; 10(8):2741-2751. PubMed ID: 32518081
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report.
    Hosseini Bereshneh A; Garshasbi M
    J Med Case Rep; 2018 Sep; 12(1):281. PubMed ID: 30249282
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
    Berkovic SF; Oliver KL; Canafoglia L; Krieger P; Damiano JA; Hildebrand MS; Morbin M; Vears DF; Sofia V; Giuliano L; Garavaglia B; Simonati A; Santorelli FM; Gambardella A; Labate A; Belcastro V; Castellotti B; Ozkara C; Zeman A; Rankin J; Mole SE; Aguglia U; Farrell M; Rajagopalan S; McDougall A; Brammah S; Andermann F; Andermann E; Dahl HM; Franceschetti S; Carpenter S
    Brain; 2019 Jan; 142(1):59-69. PubMed ID: 30561534
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].
    Taschner PE; Losekoot M; Breuning MH; Hofman I; van Diggelen OP
    Ned Tijdschr Geneeskd; 2005 Feb; 149(6):300-3. PubMed ID: 15730038
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.
    Villani NA; Bullock G; Michaels JR; Yamato O; O'Brien DP; Mhlanga-Mutangadura T; Johnson GS; Katz ML
    Mol Genet Metab; 2019 May; 127(1):107-115. PubMed ID: 31101435
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.
    Guo J; Johnson GS; Brown HA; Provencher ML; da Costa RC; Mhlanga-Mutangadura T; Taylor JF; Schnabel RD; O'Brien DP; Katz ML
    Mol Genet Metab; 2014 Aug; 112(4):302-9. PubMed ID: 24953404
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Neuronal ceroid lipofuscinosis type-11 in an adolescent.
    Kamate M; Detroja M; Hattiholi V
    Brain Dev; 2019 Jun; 41(6):542-545. PubMed ID: 30922528
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand.
    Kulsirichawaroj P; Likasitwattanakul S; Boonsimma P; Prangphan K; Chanvanichtrakool M
    Pediatr Neurol; 2022 Nov; 136():50-55. PubMed ID: 36137348
    [TBL] [Abstract][Full Text] [Related]  

  • 15. CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.
    Bouhouche A; Regragui W; El Fahime E; Bouslam N; Tazi-Ahnini R; Melloul M; Benomar A; Yahyaoui M
    Indian J Pediatr; 2013 Aug; 80(8):694-6. PubMed ID: 23180398
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.
    Kozina AA; Okuneva EG; Baryshnikova NV; Krasnenko AY; Tsukanov KY; Klimchuk OI; Kondakova OB; Larionova AN; Batysheva TT; Surkova EI; Shatalov PA; Ilinsky VV
    BMC Med Genet; 2018 Aug; 19(1):151. PubMed ID: 30144815
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.
    Guo J; O'Brien DP; Mhlanga-Mutangadura T; Olby NJ; Taylor JF; Schnabel RD; Katz ML; Johnson GS
    BMC Vet Res; 2015 Jan; 10():960. PubMed ID: 25551667
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.
    Hirz M; Drögemüller M; Schänzer A; Jagannathan V; Dietschi E; Goebel HH; Hecht W; Laubner S; Schmidt MJ; Steffen F; Hilbe M; Köhler K; Drögemüller C; Herden C
    Mol Genet Metab; 2017 Mar; 120(3):269-277. PubMed ID: 28024876
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.
    Patiño LC; Battu R; Ortega-Recalde O; Nallathambi J; Anandula VR; Renukaradhya U; Laissue P
    PLoS One; 2014; 9(10):e109576. PubMed ID: 25333361
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Neuronal ceroid lipofuscinoses.
    Chabrol B; Caillaud C; Minassian B
    Handb Clin Neurol; 2013; 113():1701-6. PubMed ID: 23622391
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.