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 *

126 related articles for article (PubMed ID: 39078102)

  • 1. Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.
    Dimartino P; Zadorozhna M; Yumiceba V; Basile A; Cani I; Melo US; Henck J; Breur M; Tonon C; Lodi R; Brusco A; Pippucci T; Koufi FD; Boschetti E; Ramazzotti G; Manzoli L; Ratti S; Pinto E Vairo F; Delatycki MB; Vaula G; Cortelli P; Bugiani M; Spielmann M; Giorgio E
    Ann Neurol; 2024 Nov; 96(5):855-870. PubMed ID: 39078102
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
    Giorgio E; Robyr D; Spielmann M; Ferrero E; Di Gregorio E; Imperiale D; Vaula G; Stamoulis G; Santoni F; Atzori C; Gasparini L; Ferrera D; Canale C; Guipponi M; Pennacchio LA; Antonarakis SE; Brussino A; Brusco A
    Hum Mol Genet; 2015 Jun; 24(11):3143-54. PubMed ID: 25701871
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.
    Brussino A; Vaula G; Cagnoli C; Panza E; Seri M; Di Gregorio E; Scappaticci S; Camanini S; Daniele D; Bradac GB; Pinessi L; Cavalieri S; Grosso E; Migone N; Brusco A
    Eur J Neurol; 2010 Apr; 17(4):541-9. PubMed ID: 19961535
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
    Giorgio E; Rolyan H; Kropp L; Chakka AB; Yatsenko S; Di Gregorio E; Lacerenza D; Vaula G; Talarico F; Mandich P; Toro C; Pierre EE; Labauge P; Capellari S; Cortelli P; Vairo FP; Miguel D; Stubbolo D; Marques LC; Gahl W; Boespflug-Tanguy O; Melberg A; Hassin-Baer S; Cohen OS; Pjontek R; Grau A; Klopstock T; Fogel B; Meijer I; Rouleau G; Bouchard JP; Ganapathiraju M; Vanderver A; Dahl N; Hobson G; Brusco A; Brussino A; Padiath QS
    Hum Mutat; 2013 Aug; 34(8):1160-71. PubMed ID: 23649844
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.
    Schuster J; Sundblom J; Thuresson AC; Hassin-Baer S; Klopstock T; Dichgans M; Cohen OS; Raininko R; Melberg A; Dahl N
    Neurogenetics; 2011 Feb; 12(1):65-72. PubMed ID: 21225301
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy.
    Meijer IA; Simoes-Lopes AA; Laurent S; Katz T; St-Onge J; Verlaan DJ; Dupré N; Thibault M; Mathurin J; Bouchard JP; Rouleau GA
    Arch Neurol; 2008 Nov; 65(11):1496-501. PubMed ID: 19001169
    [TBL] [Abstract][Full Text] [Related]  

  • 7. LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.
    Finnsson J; Sundblom J; Dahl N; Melberg A; Raininko R
    Ann Neurol; 2015 Sep; 78(3):412-25. PubMed ID: 26053668
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cell signaling pathways in autosomal-dominant leukodystrophy (ADLD): the intriguing role of the astrocytes.
    Ratti S; Rusciano I; Mongiorgi S; Owusu Obeng E; Cappellini A; Teti G; Falconi M; Talozzi L; Capellari S; Bartoletti-Stella A; Guaraldi P; Cortelli P; Suh PG; Cocco L; Manzoli L; Ramazzotti G
    Cell Mol Life Sci; 2021 Mar; 78(6):2781-2795. PubMed ID: 33034697
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy.
    Columbaro M; Mattioli E; Maraldi NM; Ortolani M; Gasparini L; D'Apice MR; Postorivo D; Nardone AM; Avnet S; Cortelli P; Liguori R; Lattanzi G
    Biochim Biophys Acta; 2013 Mar; 1832(3):411-20. PubMed ID: 23261988
    [TBL] [Abstract][Full Text] [Related]  

  • 10. An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis.
    Dai Y; Ma Y; Li S; Banerjee S; Liang S; Liu Q; Yang Y; Peng B; Cui L; Jin L
    Front Mol Neurosci; 2017; 10():215. PubMed ID: 28769756
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Brain magnetic resonance metabolic and microstructural changes in adult-onset autosomal dominant leukodystrophy.
    Zanigni S; Terlizzi R; Tonon C; Testa C; Manners DN; Capellari S; Gallassi R; Poda R; Gramegna LL; Calandra-Buonaura G; Sambati L; Cortelli P; Lodi R
    Brain Res Bull; 2015 Aug; 117():24-31. PubMed ID: 26189928
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Development and Optimization of a High-Content Analysis Platform to Identify Suppressors of Lamin B1 Overexpression as a Therapeutic Strategy for Autosomal Dominant Leukodystrophy.
    Nmezi B; Vollmer LL; Shun TY; Gough A; Rolyan H; Liu F; Jia Y; Padiath QS; Vogt A
    SLAS Discov; 2020 Sep; 25(8):939-949. PubMed ID: 32349647
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD).
    Lo Martire V; Alvente S; Bastianini S; Berteotti C; Bombardi C; Calandra-Buonaura G; Capellari S; Cohen G; Cortelli P; Gasparini L; Padiath Q; Valli A; Zoccoli G; Silvani A
    Exp Neurol; 2018 Mar; 301(Pt A):1-12. PubMed ID: 29262292
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.
    Giorgio E; Lorenzati M; Rivetti di Val Cervo P; Brussino A; Cernigoj M; Della Sala E; Bartoletti Stella A; Ferrero M; Caiazzo M; Capellari S; Cortelli P; Conti L; Cattaneo E; Buffo A; Brusco A
    Brain; 2019 Jul; 142(7):1905-1920. PubMed ID: 31143934
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Messenger RNA processing is altered in autosomal dominant leukodystrophy.
    Bartoletti-Stella A; Gasparini L; Giacomini C; Corrado P; Terlizzi R; Giorgio E; Magini P; Seri M; Baruzzi A; Parchi P; Brusco A; Cortelli P; Capellari S
    Hum Mol Genet; 2015 May; 24(10):2746-56. PubMed ID: 25637521
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Adult-onset autosomal dominant leukodystrophy and neuronal intranuclear inclusion disease: lessons from two new Chinese families.
    Chen S; Zou JL; He S; Li W; Zhang JW; Li SJ
    Neurol Sci; 2022 Aug; 43(8):1-9. PubMed ID: 35419641
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies.
    Padiath QS
    Nucleus; 2016 Nov; 7(6):547-553. PubMed ID: 27854160
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Lamin B1 fluctuations have differential effects on cellular proliferation and senescence.
    Dreesen O; Chojnowski A; Ong PF; Zhao TY; Common JE; Lunny D; Lane EB; Lee SJ; Vardy LA; Stewart CL; Colman A
    J Cell Biol; 2013 Mar; 200(5):605-17. PubMed ID: 23439683
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings.
    Terlizzi R; Calandra-Buonaura G; Zanigni S; Barletta G; Capellari S; Guaraldi P; Donadio V; Cason E; Contin M; Poda R; Tonon C; Sambati L; Gallassi R; Liguori R; Lodi R; Cortelli P
    Auton Neurosci; 2016 Feb; 195():20-6. PubMed ID: 26896090
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.