Works matching DE "BROWN-Vialetto-Van Laere syndrome"

Results: 21

Brown-Vialetto-Van Laere syndrome: Clinical and neuroradiological findings of a genetically proven patient.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 1/2, p. 141, doi. 10.3109/21678421.2013.837931

By:

Bandettini Di Poggio, Monica;
Monti Bragadin, Margherita;
Reni, Lizia;
Doria-Lamba, Laura;
Cereda, Cristina;
Pardini, Matteo;
Roccatagliata, Luca;
Rossi, Andrea;
Schenone, Angelo

Publication type:

Article

Late-onset Brown-Vialetto-Van Laere Syndrome with Electrophysiological Findings.

Published in:

Cyprus Journal of Medical Sciences, 2023, v. 8, n. 6, p. 449, doi. 10.4274/cjms.2023.2023-50

By:

Selçuk, Ferda;
Ertaş, Mustafa

Publication type:

Article

The audiovestibular profile of Brown-Vialetto-Van Laere syndrome.

Published in:

Journal of Laryngology & Otology, 2021, v. 135, n. 11, p. 1000, doi. 10.1017/S0022215121002395

By:

Omar, R;
Rajput, K;
Sirimanna, T;
Rajput, S;
Pagarkar, W

Publication type:

Article

Auditory neuropathy spectrum disorder with Brown–Vialetto–Van Laere syndrome: challenges in hearing rehabilitation.

Published in:

Journal of Laryngology & Otology, 2015, v. 129, n. 5, p. 504, doi. 10.1017/S0022215114003375

By:

Chandran, R;
Alexander, M;
Naina, P;
Balraj, A

Publication type:

Article

Brown-Vialetto-Van Laere Syndrome: Clinical and Neuropathologic Findings with Immunohistochemistry for C20orf54 in Three Affected Patients.

Published in:

2013

By:

MALAFRONTE, PATRICK;
CLARK, H. BRENT;
CASTANEDA-SANCHEZ, IRENE;
RAISANEN, JACK;
HATANPAA, KIMMO J.

Publication type:

Case Study

Brown-Vialetto-Van Laere syndrome.

Published in:

Iranian Journal of Child Neurology, 2024, v. 18, n. 2, p. 141, doi. 10.22037/ijcn.v18i2.37314

By:

IMANNEZHAD, Shima;
GHAYOOR KARIMIANI, Ehsan;
SEZAVAR, Majid;
KHADEMI, Gholam Reza;
NASERI, Maryam;
ASHRAFZADEH, Farah

Publication type:

Article

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Published in:

2017

By:

Manole, Andreea;
Jaunmuktane, Zane;
Hargreaves, Iain;
Ludtmann, Marthe H. R.;
Salpietro, Vincenzo;
Bello, Oscar D.;
Pope, Simon;
Pandraud, Amelie;
Horga, Alejandro;
Scalco, Renata S.;
Abi Li;
Ashokkumar, Balasubramaniem;
Lourenc, Charles M.;
Heales, Simon;
Horvath, Rita;
Chinnery, Patrick F.;
Toro, Camilo;
Singleton, Andrew B.;
Jacques, Thomas S.;
Abramov, Andrey Y.

Publication type:

journal article

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 1, p. 44, doi. 10.1093/brain/awt315

By:

Foley, A. Reghan;
Menezes, Manoj P.;
Pandraud, Amelie;
Gonzalez, Michael A.;
Al-Odaib, Ahmad;
Abrams, Alexander J.;
Sugano, Kumiko;
Yonezawa, Atsushi;
Manzur, Adnan Y.;
Burns, Joshua;
Hughes, Imelda;
McCullagh, B. Gary;
Jungbluth, Heinz;
Lim, Ming J.;
Lin, Jean-Pierre;
Megarbane, Andre;
Urtizberea, J. Andoni;
Shah, Ayaz H.;
Antony, Jayne;
Webster, Richard

Publication type:

Article

Cochlear implantation in children with auditory neuropathy: Lessons from Brown-Vialetto-Van Laere syndrome.

Published in:

2019

By:

Anderson, Phoebe;
Schaefer, Simone;
Henderson, Lise;
Bruce, Iain A.

Publication type:

journal article

Audiologic results of a child with BVVL syndrome.

Published in:

Annals of Medical of Research, 2023, v. 30, n. 8, p. 976, doi. 10.5455/annalsmedres.2023.07.162

By:

Yilmaz, Oguz;
Gundogdu, Ogulcan;
Tunc, Ayberk Aydin;
Cakir, Mustafa

Publication type:

Article

Riboflavin treatment in genetically proven Brown–Vialetto–Van Laere syndrome.

Published in:

Journal of Pediatric Neurosciences, 2018, v. 13, n. 4, p. 471, doi. 10.4103/JPN.JPN_131_17

By:

Garg, Meenal;
Kulkarni, Shilpa;
Hegde, Anaita;
Shah, Krishnakumar

Publication type:

Article

Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran.

Published in:

2013

By:

Toopchizadeh, Vahideh;
Akbari, Masood Ghahvechi;
Habibzadeh, Afshin

Publication type:

Letter

Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency.

Published in:

Journal of the Peripheral Nervous System, 2023, v. 28, n. 3, p. 308, doi. 10.1111/jns.12587

By:

Fennessy, Jack R.;
Cornett, Kayla M. D.;
Burns, Joshua;
Menezes, Manoj P.

Publication type:

Article

Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology.

Published in:

Nutrition & Metabolism, 2015, v. 12, n. 1, p. 1, doi. 10.1186/s12986-015-0008-3

By:

Subramanian, Veedamali S.;
Kapadia, Rubina;
Ghosal, Abhisek;
Said, Hamid M.

Publication type:

Article

Auditory Neuropathy Spectrum Disorder in Brown-Vialetto-Van Laere Syndrome.

Published in:

Auditory & Vestibular Research (2423-480X), 2022, v. 31, n. 3, p. 238, doi. 10.18502/avr.v31i3.9874

By:

Talebi, Hossein

Publication type:

Article

Posters: Brown--Vialetto--Van Laere Syndrome -- a case report of riboflavin treatment and cochlear implants in a 4-yearold girl with progressive hearing loss and delayed speech development.

Published in:

Journal of Hearing Science, 2025, v. 15, n. 1, p. 114

By:

Piecuch, A. K.;
Skarzynski, P. H.;
Skarzynski, H.

Publication type:

Article

Cochlear implantation in children with auditory neuropathy: lessons from Brown Vialetto Van Laere Syndrome.

Published in:

Journal of Hearing Science, 2018, v. 8, n. 2, p. 166

By:

Anderson, P.;
Verma, R. U.;
Schaefer, S.;
Henderson, L.;
Bruce, I.

Publication type:

Article

Identification of a novel gene in Brown-Vialetto-Van Laere syndrome.

Published in:

2018

By:

Demir, Ata;
Tanrıöver, Cem;
Vural, Atay;
Gürhan, Gülben;
Akçimen, Fulya;
Başak, A. Nazlı;
Önder, Tamer T.

Publication type:

Abstract

Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.

Published in:

Journal of Child Neurology, 2017, v. 32, n. 6, p. 528, doi. 10.1177/0883073816689517

By:

Allison, Tyler;
Roncero, Inés;
Forsyth, Rob;
Coffman, Keith;
Pichon, Jean-Baptiste Le

Publication type:

Article

Severe Childhood Neuronopathy that Responds to Riboflavin.

Published in:

Neurology Alert, 2014, v. 32, n. 8, p. 52

By:

Keros, Sotirios

Publication type:

Article

A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency).

Published in:

International Journal of Audiology, 2022, v. 61, n. 3, p. 258, doi. 10.1080/14992027.2021.1921291

By:

Gedik Soyuyuce, Ozlem;
Ayanoglu Aksoy, Elif;
Yapici, Zuhal

Publication type:

Article