232 related articles for article (PubMed ID: 22633641)
1. 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]
2. 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]
3. 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]
4. Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
Dezfouli MA; Yadegari S; Nafissi S; Elahi E
J Hum Genet; 2012 Sep; 57(9):613-7. PubMed ID: 22718020
[TBL] [Abstract][Full Text] [Related]
5. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.
Bosch AM; Abeling NG; Ijlst L; Knoester H; van der Pol WL; Stroomer AE; Wanders RJ; Visser G; Wijburg FA; Duran M; Waterham HR
J Inherit Metab Dis; 2011 Feb; 34(1):159-64. PubMed ID: 21110228
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient.
Bandettini Di Poggio M; Monti Bragadin M; Reni L; Doria-Lamba L; Cereda C; Pardini M; Roccatagliata L; Rossi A; Schenone A
Amyotroph Lateral Scler Frontotemporal Degener; 2014 Mar; 15(1-2):141-4. PubMed ID: 24079556
[TBL] [Abstract][Full Text] [Related]
8. Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology.
Prabhu HV; Brown MJ
J Laryngol Otol; 2005 Jun; 119(6):470-2. PubMed ID: 15992475
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients.
Malafronte P; Clark HB; Castaneda-Sanchez I; Raisanen J; Hatanpaa KJ
Pediatr Dev Pathol; 2013; 16(5):364-71. PubMed ID: 23688382
[TBL] [Abstract][Full Text] [Related]
11. Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.
Anand G; Hasan N; Jayapal S; Huma Z; Ali T; Hull J; Blair E; McShane T; Jayawant S
Dev Med Child Neurol; 2012 Feb; 54(2):187-9. PubMed ID: 22098162
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin.
Horoz OO; Mungan NO; Yildizdas D; Hergüner Ö; Ceylaner S; Kör D; Waterham H; Coskun T
J Pediatr Endocrinol Metab; 2016 Feb; 29(2):227-31. PubMed ID: 26444347
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.
Ciccolella M; Corti S; Catteruccia M; Petrini S; Tozzi G; Rizza T; Carrozzo R; Nizzardo M; Bordoni A; Ronchi D; D'Amico A; Rizzo C; Comi GP; Bertini E
J Med Genet; 2013 Feb; 50(2):104-7. PubMed ID: 23243084
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood.
Spagnoli C; De Sousa C
Dev Med Child Neurol; 2012 Apr; 54(4):292-3. PubMed ID: 22211384
[No Abstract] [Full Text] [Related]
19. Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.
Gayathri S; Gowda VK; Udhayabanu T; O'Callaghan B; Efthymiou S; Varalakshmi P; Benakappa N; Houlden H; Ashokkumar B
Eur J Neurol; 2021 Mar; 28(3):945-954. PubMed ID: 33325104
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
