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 *

134 related articles for article (PubMed ID: 34548540)

  • 1. Characterization of SSBP1-related optic atrophy and foveopathy.
    Meunier I; Bocquet B; Defoort-Dhellemmes S; Smirnov V; Arndt C; Picot MC; Dollfus H; Charif M; Audo I; Huguet H; Zanlonghi X; Lenaers G
    Sci Rep; 2021 Sep; 11(1):18703. PubMed ID: 34548540
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The importance of genome sequencing: unraveling
    Jun JW; Seo Y; Han SH; Han J
    Ophthalmic Genet; 2023 Jun; 44(3):286-290. PubMed ID: 35946466
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
    Piro-Mégy C; Sarzi E; Tarrés-Solé A; Péquignot M; Hensen F; Quilès M; Manes G; Chakraborty A; Sénéchal A; Bocquet B; Cazevieille C; Roubertie A; Müller A; Charif M; Goudenège D; Lenaers G; Wilhelm H; Kellner U; Weisschuh N; Wissinger B; Zanlonghi X; Hamel C; Spelbrink JN; Sola M; Delettre C
    J Clin Invest; 2020 Jan; 130(1):143-156. PubMed ID: 31550237
    [TBL] [Abstract][Full Text] [Related]  

  • 4. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
    Jurkute N; Leu C; Pogoda HM; Arno G; Robson AG; Nürnberg G; Altmüller J; Thiele H; Motameny S; Toliat MR; Powell K; Höhne W; Michaelides M; Webster AR; Moore AT; Hammerschmidt M; Nürnberg P; Yu-Wai-Man P; Votruba M
    Ann Neurol; 2019 Sep; 86(3):368-383. PubMed ID: 31298765
    [TBL] [Abstract][Full Text] [Related]  

  • 5. SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
    Jurkute N; D'Esposito F; Robson AG; Pitceathly RDS; Cordeiro F; Raymond FL; Moore AT; Michaelides M; Yu-Wai-Man P; Webster AR; Arno G;
    Invest Ophthalmol Vis Sci; 2021 Dec; 62(15):12. PubMed ID: 34905022
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Dominant optic atrophy.
    Lenaers G; Hamel C; Delettre C; Amati-Bonneau P; Procaccio V; Bonneau D; Reynier P; Milea D
    Orphanet J Rare Dis; 2012 Jul; 7():46. PubMed ID: 22776096
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SSBP1 faux pas in mitonuclear tango causes optic neuropathy.
    Zelinger L; Swaroop A
    J Clin Invest; 2020 Jan; 130(1):62-64. PubMed ID: 31738184
    [TBL] [Abstract][Full Text] [Related]  

  • 8. SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
    Del Dotto V; Ullah F; Di Meo I; Magini P; Gusic M; Maresca A; Caporali L; Palombo F; Tagliavini F; Baugh EH; Macao B; Szilagyi Z; Peron C; Gustafson MA; Khan K; La Morgia C; Barboni P; Carbonelli M; Valentino ML; Liguori R; Shashi V; Sullivan J; Nagaraj S; El-Dairi M; Iannaccone A; Cutcutache I; Bertini E; Carrozzo R; Emma F; Diomedi-Camassei F; Zanna C; Armstrong M; Page M; Stong N; Boesch S; Kopajtich R; Wortmann S; Sperl W; Davis EE; Copeland WC; Seri M; Falkenberg M; Prokisch H; Katsanis N; Tiranti V; Pippucci T; Carelli V
    J Clin Invest; 2020 Jan; 130(1):108-125. PubMed ID: 31550240
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Optical Coherence Tomography of the Retinal Ganglion Cell Complex in Leber's Hereditary Optic Neuropathy and Dominant Optic Atrophy.
    Asanad S; Tian JJ; Frousiakis S; Jiang JP; Kogachi K; Felix CM; Fatemeh D; Irvine AG; Ter-Zakarian A; Falavarjani KG; Barboni P; Karanjia R; Sadun AA
    Curr Eye Res; 2019 Jun; 44(6):638-644. PubMed ID: 30649972
    [No Abstract]   [Full Text] [Related]  

  • 10. Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.
    Schaaf CP; Blazo M; Lewis RA; Tonini RE; Takei H; Wang J; Wong LJ; Scaglia F
    Mol Genet Metab; 2011 Aug; 103(4):383-7. PubMed ID: 21636302
    [TBL] [Abstract][Full Text] [Related]  

  • 11. OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.
    Barboni P; Carbonelli M; Savini G; Foscarini B; Parisi V; Valentino ML; Carta A; De Negri A; Sadun F; Zeviani M; Sadun AA; Schimpf S; Wissinger B; Carelli V
    Ophthalmology; 2010 Aug; 117(8):1547-53. PubMed ID: 20417568
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.
    Chang YH; Kang EY; Liu L; Jenny LA; Khang R; Seo GH; Lee H; Chen KJ; Wu WC; Hsiao MC; Wang NK
    Orphanet J Rare Dis; 2023 May; 18(1):131. PubMed ID: 37259171
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.
    Nochez Y; Arsene S; Gueguen N; Chevrollier A; Ferré M; Guillet V; Desquiret V; Toutain A; Bonneau D; Procaccio V; Amati-Bonneau P; Pisella PJ; Reynier P
    Mol Vis; 2009; 15():598-608. PubMed ID: 19325939
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
    Züchner S; De Jonghe P; Jordanova A; Claeys KG; Guergueltcheva V; Cherninkova S; Hamilton SR; Van Stavern G; Krajewski KM; Stajich J; Tournev I; Verhoeven K; Langerhorst CT; de Visser M; Baas F; Bird T; Timmerman V; Shy M; Vance JM
    Ann Neurol; 2006 Feb; 59(2):276-81. PubMed ID: 16437557
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Studies in dominant optic atrophy.
    Roggeveen HC; de Winter AP; Went LN
    Ophthalmic Paediatr Genet; 1985 Feb; 5(1-2):103-9. PubMed ID: 4058864
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
    Toomes C; Marchbank NJ; Mackey DA; Craig JE; Newbury-Ecob RA; Bennett CP; Vize CJ; Desai SP; Black GC; Patel N; Teimory M; Markham AF; Inglehearn CF; Churchill AJ
    Hum Mol Genet; 2001 Jun; 10(13):1369-78. PubMed ID: 11440989
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Retinal dysfunction characterizes subtypes of dominant optic atrophy.
    Cascavilla ML; Parisi V; Triolo G; Ziccardi L; Borrelli E; Di Renzo A; Balducci N; Lamperti C; Bianchi Marzoli S; Darvizeh F; Sadun AA; Carelli V; Bandello F; Barboni P
    Acta Ophthalmol; 2018 Mar; 96(2):e156-e163. PubMed ID: 28926202
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.
    Dessalces E; Bocquet B; Bourien J; Zanlonghi X; Verdet R; Meunier I; Hamel CP
    JAMA Ophthalmol; 2013 Oct; 131(10):1314-23. PubMed ID: 23929416
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations.
    Ito Y; Nakamura M; Yamakoshi T; Lin J; Yatsuya H; Terasaki H
    Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4079-86. PubMed ID: 17724190
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies.
    Small KW; Tran EM; Small L; Rao RC; Shaya F
    Ophthalmol Retina; 2019 Jul; 3(7):607-614. PubMed ID: 31043363
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.