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 *

364 related articles for article (PubMed ID: 34469436)

  • 1. Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
    Gall K; Izzo E; Seppälä EH; Alakurtti K; Koskinen L; Saarinen I; Singh A; Myllykangas S; Koskenvuo J; Alastalo TP
    PLoS One; 2021; 16(9):e0255933. PubMed ID: 34469436
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
    Amadori E; Scala M; Cereda GS; Vari MS; Marchese F; Di Pisa V; Mancardi MM; Giacomini T; Siri L; Vercellino F; Serino D; Orsini A; Bonuccelli A; Bagnasco I; Papa A; Minetti C; Cordelli DM; Striano P
    Ital J Pediatr; 2020 Jul; 46(1):92. PubMed ID: 32631363
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.
    Leal-Pardinas F; Truty R; McKnight DA; Johnson B; Morales A; Bristow SL; Yar Pang T; Cohen-Pfeffer J; Izzo E; Sankar R; Koh S; Wirrell EC; Millichap JJ; Aradhya S
    Epilepsia; 2022 Jul; 63(7):e68-e73. PubMed ID: 35474188
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.
    Lourenço CM; Sallum JMF; Pereira AM; Girotto PN; Kok F; Vilela DRF; Barron E; Pessoa A; Oliveira BM
    Arq Neuropsiquiatr; 2024 May; 82(5):1-8. PubMed ID: 38763144
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.
    Castellotti B; Ragona F; Freri E; Messina G; Magri S; Previtali R; Solazzi R; Franceschetti S; Taroni F; Canafoglia L; Gellera C; Granata T; DiFrancesco JC
    Epilepsia Open; 2024 Oct; 9(5):1922-1930. PubMed ID: 39215763
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
    Stödberg T; Tomson T; Barbaro M; Stranneheim H; Anderlid BM; Carlsson S; Åmark P; Wedell A
    Epilepsia; 2020 Nov; 61(11):2486-2499. PubMed ID: 32964447
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease.
    Specchio N; Bellusci M; Pietrafusa N; Trivisano M; de Palma L; Vigevano F
    Epilepsia; 2017 Aug; 58(8):1380-1388. PubMed ID: 28632327
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Provoked seizures at the onset of progressive disease contribute to diagnosis delay - A tertiary center experience in a cohort of 22 children with CLN2.
    Kravljanac R; Vucetic Tadic B
    Eur J Paediatr Neurol; 2022 Sep; 40():1-4. PubMed ID: 35792390
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study.
    Nickel M; Simonati A; Jacoby D; Lezius S; Kilian D; Van de Graaf B; Pagovich OE; Kosofsky B; Yohay K; Downs M; Slasor P; Ajayi T; Crystal RG; Kohlschütter A; Sondhi D; Schulz A
    Lancet Child Adolesc Health; 2018 Aug; 2(8):582-590. PubMed ID: 30119717
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
    Lee J; Lee C; Ki CS; Lee J
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1376. PubMed ID: 32613771
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
    Fietz M; AlSayed M; Burke D; Cohen-Pfeffer J; Cooper JD; Dvořáková L; Giugliani R; Izzo E; Jahnová H; Lukacs Z; Mole SE; Noher de Halac I; Pearce DA; Poupetova H; Schulz A; Specchio N; Xin W; Miller N
    Mol Genet Metab; 2016 Sep; 119(1-2):160-7. PubMed ID: 27553878
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India.
    Murthy MC; Banerjee B; Shetty M; Mariappan M; Sekhsaria A
    Epileptic Disord; 2024 Oct; 26(5):609-625. PubMed ID: 38923778
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers.
    Beltrán L; Valenzuela GR; Loos M; Vargas R; Lizama R; Spinsanti P; Caraballo R
    Epilepsy Res; 2018 Aug; 144():49-52. PubMed ID: 29778029
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.
    Costain G; Cordeiro D; Matviychuk D; Mercimek-Andrews S
    Neuroscience; 2019 Oct; 418():291-310. PubMed ID: 31487502
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.
    Hoelz H; Herdl C; Gerstl L; Tacke M; Vill K; von Stuelpnagel C; Rost I; Hoertnagel K; Abicht A; Hollizeck S; Larsen LHG; Borggraefe I
    Clin EEG Neurosci; 2020 Jan; 51(1):61-69. PubMed ID: 31554424
    [No Abstract]   [Full Text] [Related]  

  • 16. Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay.
    Ardicli D; Haliloglu G; Gocmen R; Gunbey C; Topcu M
    Eur J Paediatr Neurol; 2021 Jul; 33():94-98. PubMed ID: 34119739
    [TBL] [Abstract][Full Text] [Related]  

  • 17. From next-generation sequencing to targeted treatment of non-acquired epilepsies.
    Møller RS; Hammer TB; Rubboli G; Lemke JR; Johannesen KM
    Expert Rev Mol Diagn; 2019 Mar; 19(3):217-228. PubMed ID: 30661434
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Epileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan.
    Arntsen V; Strandheim J; Helland IB; Sand T; Brodtkorb E
    Epilepsy Behav; 2019 May; 94():59-64. PubMed ID: 30884409
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Early-Life Epilepsies and the Emerging Role of Genetic Testing.
    Berg AT; Coryell J; Saneto RP; Grinspan ZM; Alexander JJ; Kekis M; Sullivan JE; Wirrell EC; Shellhaas RA; Mytinger JR; Gaillard WD; Kossoff EH; Valencia I; Knupp KG; Wusthoff C; Keator C; Dobyns WB; Ryan N; Loddenkemper T; Chu CJ; Novotny EJ; Koh S
    JAMA Pediatr; 2017 Sep; 171(9):863-871. PubMed ID: 28759667
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The contribution of next generation sequencing to epilepsy genetics.
    Møller RS; Dahl HA; Helbig I
    Expert Rev Mol Diagn; 2015; 15(12):1531-8. PubMed ID: 26565596
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.