BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

134 related articles for article (PubMed ID: 38296034)

  • 1. Recurrent MECR R258W causes adult-onset optic atrophy: A case report.
    Jia N; Yu S; Zhang G; Li L; Wang J; Lai C
    Eur J Med Genet; 2024 Apr; 68():104917. PubMed ID: 38296034
    [TBL] [Abstract][Full Text] [Related]  

  • 2. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
    Heimer G; Kerätär JM; Riley LG; Balasubramaniam S; Eyal E; Pietikäinen LP; Hiltunen JK; Marek-Yagel D; Hamada J; Gregory A; Rogers C; Hogarth P; Nance MA; Shalva N; Veber A; Tzadok M; Nissenkorn A; Tonduti D; Renaldo F; ; Kraoua I; Panteghini C; Valletta L; Garavaglia B; Cowley MJ; Gayevskiy V; Roscioli T; Silberstein JM; Hoffmann C; Raas-Rothschild A; Tiranti V; Anikster Y; Christodoulou J; Kastaniotis AJ; Ben-Zeev B; Hayflick SJ
    Am J Hum Genet; 2016 Dec; 99(6):1229-1244. PubMed ID: 27817865
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recessive
    Fiorini C; Degiorgi A; Cascavilla ML; Tropeano CV; La Morgia C; Battista M; Ormanbekova D; Palombo F; Carbonelli M; Bandello F; Carelli V; Maresca A; Barboni P; Baruffini E; Caporali L
    J Med Genet; 2023 Dec; 61(1):93-101. PubMed ID: 37734847
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
    Liu Z; Shimura M; Zhang L; Zhang W; Wang J; Ogawa-Tominaga M; Wang J; Wang X; Lv J; Shi W; Zhang VW; Murayama K; Fang F
    Mitochondrion; 2021 Mar; 57():222-229. PubMed ID: 33401012
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ophthalmic manifestations of MEPAN syndrome.
    Gupta PR; Gospe SM
    Ophthalmic Genet; 2023 Oct; 44(5):469-474. PubMed ID: 36262091
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel MECR Mutation in Childhood-Onset Dystonia, Optic Atrophy, and Basal Ganglia Signal Abnormalities.
    Gorukmez O; Gorukmez O; Havalı C
    Neuropediatrics; 2019 Oct; 50(5):336-337. PubMed ID: 31137067
    [No Abstract]   [Full Text] [Related]  

  • 7. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
    Zech M; Brunet T; Škorvánek M; Blaschek A; Vill K; Hanker B; Hüning I; Haň V; Došekova P; Gdovinová Z; Alhaddad B; Berutti R; Strom TM; Růžička E; Kamsteeg EJ; van der Smagt JJ; Wagner M; Jech R; Winkelmann J
    Parkinsonism Relat Disord; 2020 Aug; 77():70-75. PubMed ID: 32629324
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome.
    Nataraj J; MacLean JA; Davies J; Kurtz J; Salisbury A; Liker MA; Sanger TD; Olaya J
    Front Neurol; 2023; 14():1307595. PubMed ID: 38328756
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic modifications of Mecr reveal a role for mitochondrial 2-enoyl-CoA/ACP reductase in placental development in mice.
    Nair RR; Kerätär JM; Autio KJ; Masud AJ; Finnilä MAJ; Autio-Harmainen HI; Miinalainen IJ; Nieminen PA; Hiltunen JK; Kastaniotis AJ
    Hum Mol Genet; 2017 Jun; 26(11):2104-2117. PubMed ID: 28369354
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].
    Zhang CL; Yin F; He F; Gai N; Shi ZQ; Peng J
    Zhonghua Er Ke Za Zhi; 2017 Apr; 55(4):288-293. PubMed ID: 28441826
    [No Abstract]   [Full Text] [Related]  

  • 11. Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum.
    Holla VV; Surisetti BK; Prasad S; Pal PK
    Parkinsonism Relat Disord; 2021 Jun; 87():22-24. PubMed ID: 33933852
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy.
    Brown MD; Hosseini S; Steiner I; Wallace DC; Korn-Lubetzki I
    Mov Disord; 2004 Feb; 19(2):235-7. PubMed ID: 14978686
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Impaired Mitochondrial Fatty Acid Synthesis Leads to Neurodegeneration in Mice.
    Nair RR; Koivisto H; Jokivarsi K; Miinalainen IJ; Autio KJ; Manninen A; Poutiainen P; Tanila H; Hiltunen JK; Kastaniotis AJ
    J Neurosci; 2018 Nov; 38(45):9781-9800. PubMed ID: 30266742
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
    Horvath R; Holinski-Feder E; Neeve VC; Pyle A; Griffin H; Ashok D; Foley C; Hudson G; Rautenstrauss B; Nürnberg G; Nürnberg P; Kortler J; Neitzel B; Bässmann I; Rahman T; Keavney B; Loughlin J; Hambleton S; Schoser B; Lochmüller H; Santibanez-Koref M; Chinnery PF
    Mov Disord; 2012 May; 27(6):789-93. PubMed ID: 22508347
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
    Carecchio M; Invernizzi F; Gonzàlez-Latapi P; Panteghini C; Zorzi G; Romito L; Leuzzi V; Galosi S; Reale C; Zibordi F; Joseph AP; Topf M; Piano C; Bentivoglio AR; Girotti F; Morana P; Morana B; Kurian MA; Garavaglia B; Mencacci NE; Lubbe SJ; Nardocci N
    Mov Disord; 2019 Oct; 34(10):1516-1527. PubMed ID: 31216378
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.
    Lacombe D; Van-Gils J; Lebrun M; Trimouille A; Michaud V; Cabet S; Chateil JF; Pedespan JM; Bar C; Lesca G
    Brain Dev; 2022 Sep; 44(8):567-570. PubMed ID: 35623960
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
    Seo Y; Lim HT; Lee BJ; Han J
    Am J Med Genet A; 2023 Feb; 191(2):582-585. PubMed ID: 36367250
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
    Montaut S; Tranchant C; Drouot N; Rudolf G; Guissart C; Tarabeux J; Stemmelen T; Velt A; Fourrage C; Nitschké P; Gerard B; Mandel JL; Koenig M; Chelly J; Anheim M;
    JAMA Neurol; 2018 Oct; 75(10):1234-1245. PubMed ID: 29913018
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.
    Bohlega SA; Abou-Al-Shaar H; AlDakheel A; Alajlan H; Bohlega BS; Meyer BF; Monies D; Cupler EJ; Al-Saif AM
    Parkinsonism Relat Disord; 2019 Jul; 64():145-149. PubMed ID: 30975617
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 7.