BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

326 related articles for article (PubMed ID: 26918385)

  • 1. Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.
    Menezes MP; O'Brien K; Hill M; Webster R; Antony J; Ouvrier R; Birman C; Gardner-Berry K
    Dev Med Child Neurol; 2016 Aug; 58(8):848-54. PubMed ID: 26918385
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The audiovestibular profile of Brown-Vialetto-Van Laere syndrome.
    Omar R; Rajput K; Sirimanna T; Rajput S; Pagarkar W
    J Laryngol Otol; 2021 Nov; 135(11):1000-1009. PubMed ID: 34496984
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cochlear implantation in children with auditory neuropathy: Lessons from Brown-Vialetto-Van Laere syndrome.
    Anderson P; Schaefer S; Henderson L; Bruce IA
    Cochlear Implants Int; 2019 Jan; 20(1):31-38. PubMed ID: 30332915
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation.
    Chandran R; Alexander M; Naina P; Balraj A
    J Laryngol Otol; 2015 May; 129(5):504-8. PubMed ID: 25994385
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Case Report of Riboflavin Treatment and Cochlear Implants in a 4-Year-Old Girl with Progressive Hearing Loss and Delayed Speech Development: Brown-Vialetto-Van Laere Syndrome.
    Piecuch AK; Skarżyński PH; Skarżyński H
    Am J Case Rep; 2023 Oct; 24():e940439. PubMed ID: 37786244
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency).
    Gedik Soyuyuce O; Ayanoglu Aksoy E; Yapici Z
    Int J Audiol; 2022 Mar; 61(3):258-264. PubMed ID: 33983862
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene.
    Koy A; Pillekamp F; Hoehn T; Waterham H; Klee D; Mayatepek E; Assmann B
    Pediatr Neurol; 2012 Jun; 46(6):407-9. PubMed ID: 22633641
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.
    Jaeger B; Bosch AM
    J Inherit Metab Dis; 2016 Jul; 39(4):559-64. PubMed ID: 26973221
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
    Foley AR; Menezes MP; Pandraud A; Gonzalez MA; Al-Odaib A; Abrams AJ; Sugano K; Yonezawa A; Manzur AY; Burns J; Hughes I; McCullagh BG; Jungbluth H; Lim MJ; Lin JP; Megarbane A; Urtizberea JA; Shah AH; Antony J; Webster R; Broomfield A; Ng J; Mathew AA; O'Byrne JJ; Forman E; Scoto M; Prasad M; O'Brien K; Olpin S; Oppenheim M; Hargreaves I; Land JM; Wang MX; Carpenter K; Horvath R; Straub V; Lek M; Gold W; Farrell MO; Brandner S; Phadke R; Matsubara K; McGarvey ML; Scherer SS; Baxter PS; King MD; Clayton P; Rahman S; Reilly MM; Ouvrier RA; Christodoulou J; Züchner S; Muntoni F; Houlden H
    Brain; 2014 Jan; 137(Pt 1):44-56. PubMed ID: 24253200
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter.
    Menezes MP; Farrar MA; Webster R; Antony J; O'Brien K; Ouvrier R; Kiernan MC; Burns J; Vucic S
    Clin Neurophysiol; 2016 Jan; 127(1):911-918. PubMed ID: 26092362
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.
    Woodcock IR; Menezes MP; Coleman L; Yaplito-Lee J; Peters H; White SM; Stapleton R; Phelan DG; Chong B; Lunke S; Stark Z; Pitt J; Ryan MM; Robertson C; Yiu EM
    Semin Pediatr Neurol; 2018 Jul; 26():2-9. PubMed ID: 29961509
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cochlear Implant in Brown-Vialetto-Van Laere Syndrome Patient.
    do Amaral MSA; Massuda ET; Mitikami Fenólio GH; Barbosa Reis ACM; Angelo Hyppolito M
    J Int Adv Otol; 2022 Mar; 18(2):192-195. PubMed ID: 35418370
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Recent advances in riboflavin transporter RFVT and its genetic disease.
    Jin C; Yonezawa A
    Pharmacol Ther; 2022 May; 233():108023. PubMed ID: 34662687
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.
    Ciccolella M; Catteruccia M; Benedetti S; Moroni I; Uziel G; Pantaleoni C; Chiapparini L; Bizzi A; D'Amico A; Fattori F; Salsano ML; Pastore A; Tozzi G; Piemonte F; Bertini E
    Neuromuscul Disord; 2012 Dec; 22(12):1075-82. PubMed ID: 22824638
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.
    Spagnoli C; Pitt MC; Rahman S; de Sousa C
    Eur J Paediatr Neurol; 2014 Mar; 18(2):231-4. PubMed ID: 24206674
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.
    Allison T; Roncero I; Forsyth R; Coffman K; Pichon JL
    J Child Neurol; 2017 May; 32(6):528-532. PubMed ID: 28116953
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
    Manole A; Jaunmuktane Z; Hargreaves I; Ludtmann MHR; Salpietro V; Bello OD; Pope S; Pandraud A; Horga A; Scalco RS; Li A; Ashokkumar B; Lourenço CM; Heales S; Horvath R; Chinnery PF; Toro C; Singleton AB; Jacques TS; Abramov AY; Muntoni F; Hanna MG; Reilly MM; Revesz T; Kullmann DM; Jepson JEC; Houlden H
    Brain; 2017 Nov; 140(11):2820-2837. PubMed ID: 29053833
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation.
    Abbas Q; Jafri SK; Ishaque S; Rahman AJ
    BMJ Case Rep; 2018 Jun; 2018():. PubMed ID: 29950502
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Brown-Vialetto-Van Laere syndrome: A rare case report of MND mimic.
    Kranthi P; Garuda BR; Gopi S; Kumar TS
    Neurol India; 2020; 68(5):1217-1219. PubMed ID: 33109881
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.
    Cosgrove J; Datta S; Busby M
    Clin Neurol Neurosurg; 2015 Jan; 128():1-3. PubMed ID: 25462087
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 17.