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 *

158 related articles for article (PubMed ID: 35757998)

  • 1. Primary CoQ
    Değerliyurt A; Gülleroğlu NB; Kibar Gül AE
    Int J Neurosci; 2024 Jun; 134(2):148-152. PubMed ID: 35757998
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.
    Barca E; Musumeci O; Montagnese F; Marino S; Granata F; Nunnari D; Peverelli L; DiMauro S; Quinzii CM; Toscano A
    Clin Genet; 2016 Aug; 90(2):156-60. PubMed ID: 26818466
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.
    Wang J; Lin Y; Xu Z; Yan C; Zhao Y; Ji K
    Cerebellum; 2024 Oct; 23(5):1824-1838. PubMed ID: 38429489
    [TBL] [Abstract][Full Text] [Related]  

  • 4. ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
    Hikmat O; Tzoulis C; Knappskog PM; Johansson S; Boman H; Sztromwasser P; Lien E; Brodtkorb E; Ghezzi D; Bindoff LA
    Eur J Neurol; 2016 Jul; 23(7):1188-94. PubMed ID: 27106809
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
    Traschütz A; Schirinzi T; Laugwitz L; Murray NH; Bingman CA; Reich S; Kern J; Heinzmann A; Vasco G; Bertini E; Zanni G; Durr A; Magri S; Taroni F; Malandrini A; Baets J; de Jonghe P; de Ridder W; Bereau M; Demuth S; Ganos C; Basak AN; Hanagasi H; Kurul SH; Bender B; Schöls L; Grasshoff U; Klopstock T; Horvath R; van de Warrenburg B; Burglen L; Rougeot C; Ewenczyk C; Koenig M; Santorelli FM; Anheim M; Munhoz RP; Haack T; Distelmaier F; Pagliarini DJ; Puccio H; Synofzik M
    Ann Neurol; 2020 Aug; 88(2):251-263. PubMed ID: 32337771
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
    Shalata A; Edery M; Habib C; Genizi J; Mahroum M; Khalaily L; Assaf N; Segal I; Abed El Rahim H; Shapira H; Urian D; Tzur S; Douiev L; Saada A
    Neurochem Res; 2019 Oct; 44(10):2372-2384. PubMed ID: 30968303
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The cerebellar bioenergetic state predicts treatment response in COQ8A-related ataxia.
    Prasuhn J; Göttlich M; Ebeling B; Bodemann C; Großer S; Wellach I; Reuther K; Hanssen H; Brüggemann N
    Parkinsonism Relat Disord; 2022 Jun; 99():91-95. PubMed ID: 35642996
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Primary coenzyme Q10 deficiency due to COQ8A gene mutations.
    Zhang L; Ashizawa T; Peng D
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1420. PubMed ID: 32743982
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).
    Scalais E; Chafai R; Van Coster R; Bindl L; Nuttin C; Panagiotaraki C; Seneca S; Lissens W; Ribes A; Geers C; Smet J; De Meirleir L
    Eur J Paediatr Neurol; 2013 Nov; 17(6):625-30. PubMed ID: 23816342
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.
    Galosi S; Barca E; Carrozzo R; Schirinzi T; Quinzii CM; Lieto M; Vasco G; Zanni G; Di Nottia M; Galatolo D; Filla A; Bertini E; Santorelli FM; Leuzzi V; Haas R; Hirano M; Friedman J
    Parkinsonism Relat Disord; 2019 Nov; 68():8-16. PubMed ID: 31621627
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel COQ8A missense variant associated with a mild form of primary coenzyme Q10 deficiency type 4.
    Liu G; Ma D; Li J; Luo C; Sun Y; Zhang J; Hu P; Tang W; Xu Z
    Clin Biochem; 2020 Oct; 84():93-98. PubMed ID: 32553579
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature.
    Hojabri M; Gilani A; Irilouzadian R; Nejad Biglari H; Sarmadian R
    Clin Med Insights Case Rep; 2023; 16():11795476231188061. PubMed ID: 37476682
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy.
    Ashrafi MR; Haghighi R; Badv RS; Ghabeli H; Tavasoli AR; Pourbakhtyaran E; Rezaei Z; Mahdieh N; Mohammadi P; Heidari M
    J Mol Neurosci; 2022 May; 72(5):1125-1132. PubMed ID: 35275351
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Epilepsy and Coenzyme Q10 deficiency with COQ4 variants.
    Hsu CJ; Lee WT
    Epilepsy Behav; 2023 Dec; 149():109498. PubMed ID: 37948995
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A family segregating lethal neonatal coenzyme Q
    Smith AC; Ito Y; Ahmed A; Schwartzentruber JA; Beaulieu CL; Aberg E; Majewski J; Bulman DE; Horsting-Wethly K; Koning DV; ; Rodenburg RJ; Boycott KM; Penney LS
    J Inherit Metab Dis; 2018 Jul; 41(4):719-729. PubMed ID: 29560582
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation.
    Eroglu FK; Ozaltin F; Gönç N; Nalçacıoğlu H; Özçakar ZB; Yalnızoğlu D; Güçer Ş; Orhan D; Eminoğlu FT; Göçmen R; Alikaşifoğlu A; Topaloğlu R; Düzova A
    Pediatr Neurol; 2018 Nov; 88():71-74. PubMed ID: 30337132
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical spectrum in multiple families with primary COQ
    Hashemi SS; Zare-Abdollahi D; Bakhshandeh MK; Vafaee A; Abolhasani S; Inanloo Rahatloo K; DanaeeFard F; Farboodi N; Rohani M; Alavi A
    Am J Med Genet A; 2021 Feb; 185(2):440-452. PubMed ID: 33215859
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial writer's cramp: a clinical clue for inherited coenzyme Q
    Amprosi M; Zech M; Steiger R; Nachbauer W; Eigentler A; Gizewski ER; Guger M; Indelicato E; Boesch S
    Neurogenetics; 2021 Mar; 22(1):81-86. PubMed ID: 32830305
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.
    Olgac A; Öztoprak Ü; Kasapkara ÇS; Kılıç M; Yüksel D; Derinkuyu EB; Taşçı Yıldız Y; Ceylaner S; Ezgu FS
    J Pediatr Endocrinol Metab; 2020 Jan; 33(1):165-170. PubMed ID: 31821167
    [TBL] [Abstract][Full Text] [Related]  

  • 20. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
    Brea-Calvo G; Haack TB; Karall D; Ohtake A; Invernizzi F; Carrozzo R; Kremer L; Dusi S; Fauth C; Scholl-Bürgi S; Graf E; Ahting U; Resta N; Laforgia N; Verrigni D; Okazaki Y; Kohda M; Martinelli D; Freisinger P; Strom TM; Meitinger T; Lamperti C; Lacson A; Navas P; Mayr JA; Bertini E; Murayama K; Zeviani M; Prokisch H; Ghezzi D
    Am J Hum Genet; 2015 Feb; 96(2):309-17. PubMed ID: 25658047
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.