BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 35861300)

  • 1. Expanding the phenotype of DNAJC30-associated Leigh syndrome.
    Zawadzka M; Krygier M; Pawłowicz M; Wilke MVMB; Rutkowska K; Gueguen N; Desquiret-Dumas V; Klee EW; Schimmenti LA; Sławek J; Procaccio V; Płoski R; Mazurkiewicz-Bełdzińska M
    Clin Genet; 2022 Nov; 102(5):438-443. PubMed ID: 35861300
    [TBL] [Abstract][Full Text] [Related]  

  • 2.
    Skorczyk-Werner A; Tońska K; Maciejczuk A; Nowomiejska K; Korwin M; Ołdak M; Wawrocka A; Krawczyński MR
    Int J Mol Sci; 2023 Dec; 24(24):. PubMed ID: 38139324
    [TBL] [Abstract][Full Text] [Related]  

  • 3. DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
    Stenton SL; Tesarova M; Sheremet NL; Catarino CB; Carelli V; Ciara E; Curry K; Engvall M; Fleming LR; Freisinger P; Iwanicka-Pronicka K; Jurkiewicz E; Klopstock T; Koenig MK; Kolářová H; Kousal B; Krylova T; La Morgia C; Nosková L; Piekutowska-Abramczuk D; Russo SN; Stránecký V; Tóthová I; Träisk F; Prokisch H
    Brain; 2022 Jun; 145(5):1624-1631. PubMed ID: 35148383
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
    Blickhäuser B; Stenton SL; Neuhofer CM; Floride E; Nesbitt V; Fratter C; Koch J; Kauffmann B; Catarino C; Schlieben LD; Kopajtich R; Carelli V; Sadun AA; McFarland R; Fang F; La Morgia C; Paquay S; Nassogne MC; Ghezzi D; Lamperti C; Wortmann S; Poulton J; Klopstock T; Prokisch H
    Brain; 2024 Jun; 147(6):1967-1974. PubMed ID: 38478578
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.
    Mauring L; Puusepp S; Parik M; Roomets E; Teek R; Reimand T; Pajusalu S; Kaljurand K; Õunap K
    Eur J Med Genet; 2023 Sep; 66(9):104821. PubMed ID: 37579815
    [TBL] [Abstract][Full Text] [Related]  

  • 6.
    Kieninger S; Xiao T; Weisschuh N; Kohl S; Rüther K; Kroisel PM; Brockmann T; Knappe S; Kellner U; Lagrèze W; Mazzola P; Haack TB; Wissinger B; Tonagel F
    J Med Genet; 2022 Oct; 59(10):1027-1034. PubMed ID: 35091433
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Case report: Mutations in
    Major TC; Arany ES; Schon K; Simo M; Karcagi V; van den Ameele J; Yu Wai Man P; Chinnery PF; Olimpio C; Horvath R
    Front Neurol; 2023; 14():1292320. PubMed ID: 38107630
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.
    Marin SE; Mesterman R; Robinson B; Rodenburg RJ; Smeitink J; Tarnopolsky MA
    Gene; 2013 Mar; 516(1):162-7. PubMed ID: 23266820
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.
    Petrovic Pajic S; Jarc-Vidmar M; Fakin A; Sustar Habjan M; Brecelj J; Volk M; Maver A; Peterlin B; Hawlina M
    Front Neurol; 2022; 13():1003046. PubMed ID: 36388184
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
    Kistol D; Tsygankova P; Krylova T; Bychkov I; Itkis Y; Nikolaeva E; Mikhailova S; Sumina M; Pechatnikova N; Kurbatov S; Bostanova F; Migiaev O; Zakharova E
    Int J Mol Sci; 2023 Jan; 24(2):. PubMed ID: 36675121
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Expanding the clinical phenotype of IARS2-related mitochondrial disease.
    Vona B; Maroofian R; Bellacchio E; Najafi M; Thompson K; Alahmad A; He L; Ahangari N; Rad A; Shahrokhzadeh S; Bahena P; Mittag F; Traub F; Movaffagh J; Amiri N; Doosti M; Boostani R; Shirzadeh E; Haaf T; Diodato D; Schmidts M; Taylor RW; Karimiani EG
    BMC Med Genet; 2018 Nov; 19(1):196. PubMed ID: 30419932
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
    Muñoz-Pujol G; Ortigoza-Escobar JD; Paredes-Fuentes AJ; Jou C; Ugarteburu O; Gort L; Yubero D; García-Cazorla A; O'Callaghan M; Campistol J; Muchart J; Yépez VA; Gusic M; Gagneur J; Prokisch H; Artuch R; Ribes A; Urreizti R; Tort F
    Brain Pathol; 2023 May; 33(3):e13134. PubMed ID: 36450274
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Whole-exome sequencing identified novel variants in three Chinese Leigh syndrome pedigrees.
    Yang Z; Cao J; Song Y; Li S; Jiao Z; Ren S; Gao X; Zhang S; Liu J; Chen Y
    Am J Med Genet A; 2022 Apr; 188(4):1214-1225. PubMed ID: 35014173
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
    Lee JS; Yoo T; Lee M; Lee Y; Jeon E; Kim SY; Lim BC; Kim KJ; Choi M; Chae JH
    Clin Genet; 2020 Apr; 97(4):586-594. PubMed ID: 32020600
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.
    Ronchi D; Cosi A; Tonduti D; Orcesi S; Bordoni A; Fortunato F; Rizzuti M; Sciacco M; Collotta M; Cagdas S; Capovilla G; Moggio M; Berardinelli A; Veggiotti P; Comi GP
    BMC Neurol; 2011 Jul; 11():85. PubMed ID: 21749722
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
    Maalej M; Kammoun T; Alila-Fersi O; Kharrat M; Ammar M; Felhi R; Mkaouar-Rebai E; Keskes L; Hachicha M; Fakhfakh F
    Biochem Biophys Res Commun; 2018 Mar; 497(4):1043-1048. PubMed ID: 29481804
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.
    Dermaut B; Seneca S; Dom L; Smets K; Ceulemans L; Smet J; De Paepe B; Tousseyn S; Weckhuysen S; Gewillig M; Pals P; Parizel P; De Bleecker JL; Boon P; De Meirleir L; De Jonghe P; Van Coster R; Van Paesschen W; Santens P
    J Neurol Neurosurg Psychiatry; 2010 Jan; 81(1):90-3. PubMed ID: 20019223
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Leigh Syndrome Due to
    Borna NN; Kishita Y; Sakai N; Hamada Y; Kamagata K; Kohda M; Ohtake A; Murayama K; Okazaki Y
    Genes (Basel); 2020 Nov; 11(11):. PubMed ID: 33182419
    [TBL] [Abstract][Full Text] [Related]  

  • 19. m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.
    Jean J; Christodoulou E; Gai X; Tamrazi B; Vera M; Mitchell WG; Schmidt RJ
    Cold Spring Harb Mol Case Stud; 2022 Feb; 8(2):. PubMed ID: 35217561
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.
    Na JH; Lee YM
    Acta Neurol Scand; 2022 Apr; 145(4):414-422. PubMed ID: 34877647
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.