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Select item 63120411.

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Melissa R Mandarakas, Manoj P Menezes, Kristy J Rose, Rosemary Shy, Kate Eichinger, Maria Foscan, Timothy Estilow, Rachel Kennedy, Karen Herbert, Paula Bray, Kathryn Refshauge, Monique M Ryan, Eppie M Yiu, Michelle Farrar, Hugo Sampaio, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Sabrina W Yum, David N Herrmann, Gyula Acsadi, Michael E Shy, Joshua Burns, Oranee Sanmaneechai

Brain. 2018 Dec; 141(12): 3319–3330. Published online 2018 Nov 22. doi: 10.1093/brain/awy280

Correction in:: Brain. 2019 Apr; 142(4): e14.

PMCID:: PMC6312041

Article PDF–857K

Select item 72291422.

14–3–3ζ Regulates the Platelet Apoptosis During Storage

Yuzhong Yan, Rufeng Xie, Zhongping Ning

Indian J Hematol Blood Transfus. 2020 Apr; 36(2): 324–329. Published online 2019 Nov 14. doi: 10.1007/s12288-019-01229-z

PMCID:: PMC7229142

Article PDF–591K

Select item 48508963.

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition

Slavé Petrovski, Vandana Shashi, Steven Petrou, Kelly Schoch, Keisha Melodi McSweeney, Ryan S. Dhindsa, Brian Krueger, Rebecca Crimian, Laura E. Case, Roha Khalid, Maysantoine A. El-Dairi, Yong-Hui Jiang, Mohamad A. Mikati, David B. Goldstein

Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1): a000257. doi: 10.1101/mcs.a000257

PMCID:: PMC4850896

Article PDF–1.0M

Select item 48508814.

Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing

Vandana Shashi, Slavé Petrovski, Kelly Schoch, Rebecca Crimian, Laura E. Case, Roha Khalid, Maysantoine A. El-Dairi, Yong-Hui Jiang, Mohamad A. Mikati, David B. Goldstein

Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1): a000265. doi: 10.1101/mcs.a000265

PMCID:: PMC4850881

Article PDF–535K

Select item 104095235.

ETFDH mutations, CoQ₁₀ levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Wen-Chen Liang, Aya Ohkuma, Yukiko K. Hayashi, Luis Carlos López, Michio Hirano, Ikuya Nonaka, Satoru Noguchi, Liang-Hui Chen, Yuh-Jyh Jong, Ichizo Nishino

Neuromuscul Disord. Author manuscript; available in PMC 2023 Aug 8.

Published in final edited form as: Neuromuscul Disord. 2009 Mar; 19(3): 212–216. Published online 2009 Feb 26. doi: 10.1016/j.nmd.2009.01.008

PMCID:: PMC10409523

Article PDF–554K

Select item 80651766.

SLC22A14 is a mitochondrial riboflavin transporter required for sperm oxidative phosphorylation and male fertility

Wenhua Kuang, Jie Zhang, Zhou Lan, R.N.V. Krishna Deepak, Chao Liu, Zhilong Ma, Lili Cheng, Xinbin Zhao, Xianbin Meng, Weihua Wang, Xueying Wang, Lina Xu, Yupei Jiao, Qi Luo, Ziyi Meng, Kehkooi Kee, Xiaohui Liu, Haiteng Deng, Wei Li, Hao Fan, Ligong Chen

Cell Rep. 2021 Apr 20; 35(3): 109025. Published online 2021 Apr 20. doi: 10.1016/j.celrep.2021.109025

PMCID:: PMC8065176

Article

Select item 67695327.

Reconstitution in Proteoliposomes of the Recombinant Human Riboflavin Transporter 2 (SLC52A2) Overexpressed in E. coli

Lara Console, Maria Tolomeo, Matilde Colella, Maria Barile, Cesare Indiveri

Int J Mol Sci. 2019 Sep; 20(18): 4416. Published online 2019 Sep 8. doi: 10.3390/ijms20184416

PMCID:: PMC6769532

Article PDF–2.1M

Select item 65052008.

A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin

Kaili Shi, Zhen Shi, Huifang Yan, Xiaodong Wang, Yanling Yang, Hui Xiong, Qiang Gu, Ye Wu, Yuwu Jiang, Jingmin Wang

BMC Med Genet. 2019; 20: 76. Published online 2019 May 7. doi: 10.1186/s12881-019-0811-1

PMCID:: PMC6505200

Article PDF–940K

Select item 58364439.

Transcriptional profiling of liver in riboflavin-deficient chicken embryos explains impaired lipid utilization, energy depletion, massive hemorrhaging, and delayed feathering

Larry A. Cogburn, Danielle N. Smarsh, Xiaofei Wang, Nares Trakooljul, Wilfrid Carré, Harold B. White, III

BMC Genomics. 2018; 19: 177. Published online 2018 Mar 5. doi: 10.1186/s12864-018-4568-2

PMCID:: PMC5836443

Article PDF–3.8M

Select item 580872610.

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden

Brain. 2017 Nov; 140(11): 2820–2837. Published online 2017 Sep 26. doi: 10.1093/brain/awx231

PMCID:: PMC5808726

Article PDF–1.9M

Select item 552100511.

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

Tamilarasan Udhayabanu, Veedamali S Subramanian, Trevor Teafatiller, Vykuntaraju K Gowda, Varun S Raghavan, Perumal Varalakshmi, Hamid M Said, Balasubramaniem Ashokkumar

Clin Chim Acta. Author manuscript; available in PMC 2017 Jul 21.

Published in final edited form as: Clin Chim Acta. 2016 Nov 1; 462: 210–214. Published online 2016 Oct 1. doi: 10.1016/j.cca.2016.09.022

PMCID:: PMC5521005

Article PDF–354K

Select item 492084012.

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

Bregje Jaeger, Annet M. Bosch

J Inherit Metab Dis. 2016; 39: 559–564. Published online 2016 Mar 14. doi: 10.1007/s10545-016-9924-2

PMCID:: PMC4920840

Article PDF–480K

Select item 475474013.

Conditional (intestinal-specific) knockout of the riboflavin transporter-3 (RFVT-3) impairs riboflavin absorption

Veedamali S. Subramanian, Nils Lambrecht, Christian Lytle, Hamid M. Said

Am J Physiol Gastrointest Liver Physiol. 2016 Feb 15; 310(4): G285–G293. Published online 2015 Dec 10. doi: 10.1152/ajpgi.00340.2015

PMCID:: PMC4754740

Article

Select item 448480014.

Molecular Mechanisms Mediating the Adaptive Regulation of Intestinal Riboflavin Uptake Process

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

PLoS One. 2015; 10(6): e0131698. Published online 2015 Jun 29. doi: 10.1371/journal.pone.0131698

PMCID:: PMC4484800

Article PDF–878K

Select item 406872615.

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown–Vialetto–Van Laere syndrome

Atchayaram Nalini, Amelie Pandraud, Kin Mok, Henry Houlden

J Neurol Sci. 2013 Nov 15; 334(1-2): 119–122. doi: 10.1016/j.jns.2013.08.003

PMCID:: PMC4068726

Article

Select item 389144716.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

A. Reghan Foley, Manoj P. Menezes, Amelie Pandraud, Michael A. Gonzalez, Ahmad Al-Odaib, Alexander J. Abrams, Kumiko Sugano, Atsushi Yonezawa, Adnan Y. Manzur, Joshua Burns, Imelda Hughes, B. Gary McCullagh, Heinz Jungbluth, Ming J. Lim, Jean-Pierre Lin, Andre Megarbane, J. Andoni Urtizberea, Ayaz H. Shah, Jayne Antony, Richard Webster, Alexander Broomfield, Joanne Ng, Ann A. Mathew, James J. O’Byrne, Eva Forman, Mariacristina Scoto, Manish Prasad, Katherine O’Brien, Simon Olpin, Marcus Oppenheim, Iain Hargreaves, John M. Land, Min X. Wang, Kevin Carpenter, Rita Horvath, Volker Straub, Monkol Lek, Wendy Gold, Michael O. Farrell, Sebastian Brandner, Rahul Phadke, Kazuo Matsubara, Michael L. McGarvey, Steven S. Scherer, Peter S. Baxter, Mary D. King, Peter Clayton, Shamima Rahman, Mary M. Reilly, Robert A. Ouvrier, John Christodoulou, Stephan Züchner, Francesco Muntoni, Henry Houlden

Brain. 2014 Jan; 137(1): 44–56. Published online 2013 Nov 15. doi: 10.1093/brain/awt315