170 related articles for article (PubMed ID: 35418370)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities.
Carey G; Kuchcinski G; Gauvrit F; Defebvre L; Nguyen S; Dhaenens CM; Dessein AF; Vianey-Saban C; Acquaviva C; Tard C
Neuromuscul Disord; 2021 Aug; 31(8):752-755. PubMed ID: 34384672
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.
Udhayabanu T; Subramanian VS; Teafatiller T; Gowda VK; Raghavan VS; Varalakshmi P; Said HM; Ashokkumar B
Clin Chim Acta; 2016 Nov; 462():210-214. PubMed ID: 27702554
[TBL] [Abstract][Full Text] [Related]
15. Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.
Nalini A; Pandraud A; Mok K; Houlden H
J Neurol Sci; 2013 Nov; 334(1-2):119-22. PubMed ID: 24139842
[TBL] [Abstract][Full Text] [Related]
16. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
Haack TB; Makowski C; Yao Y; Graf E; Hempel M; Wieland T; Tauer U; Ahting U; Mayr JA; Freisinger P; Yoshimatsu H; Inui K; Strom TM; Meitinger T; Yonezawa A; Prokisch H
J Inherit Metab Dis; 2012 Nov; 35(6):943-8. PubMed ID: 22864630
[TBL] [Abstract][Full Text] [Related]
17. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
Johnson JO; Gibbs JR; Megarbane A; Urtizberea JA; Hernandez DG; Foley AR; Arepalli S; Pandraud A; Simón-Sánchez J; Clayton P; Reilly MM; Muntoni F; Abramzon Y; Houlden H; Singleton AB
Brain; 2012 Sep; 135(Pt 9):2875-82. PubMed ID: 22740598
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]