Clinical Laboratory Experience of Frataxin Quantification in Blood for the Diagnosis of Friedreich Ataxia

被引：0

作者：

Pantovich, Iris ^{[1
,2
]}

White, Amy ^{[2
]}

Studinski, April ^{[2
]}

Mu, Weiyi ^{[3
]}

Kaas, Bonnie ^{[4
]}

Bower, Matthew ^{[5
]}

Pino, Gisele Bentz ^{[2
]}

Peck, Dawn ^{[2
]}

Salsbery, Kyle ^{[2
]}

Lauer, Emily ^{[2
]}

Pickart, Angela ^{[2
]}

Rumilla, Kandelaria ^{[2
]}

Shen, Wei ^{[2
]}

Niu, Zhiyv ^{[2
]}

Hall, Patricia ^{[2
]}

Schultz, Matthew ^{[2
]}

Gavrilov, Dimitar ^{[2
]}

Tortorelli, Silvia ^{[2
]}

Matern, Dietrich ^{[2
]}

Gavrilova, Ralitza ^{[6
]}

Oglesbee, Devin

机构：

[1] Univ Minnesota, Genet Counseling Program, Minneapolis, MN USA

[2] Mayo Clin, Lab Med & Pathol, Rochester, MN USA

[3] Johns Hopkins Univ, Genet Med, Baltimore, MD USA

[4] Ascens Med Grp, Neurol, Baltimore, MD USA

[5] M Hlth Fairview Univ Minnesota Med Ctr, Genet Counseling, Minneapolis, MN USA

[6] Mayo Clin, Neurol, Rochester, MN USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P12.013.D

引用

页码：1523 / 1524

页数：2

共 50 条

[41] Friedreich's ataxia and frataxin: Molecular genetics, evolution and pathogenesis (Review)
Palau, F
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2001, 7 (06) : 581 - 589
[42] DNA methylation in Friedreich ataxia silences expression of frataxin isoform E
Layne N. Rodden
Kaitlyn M. Gilliam
Christina Lam
Teerapat Rojsajjakul
Clementina Mesaros
Chiara Dionisi
Mark Pook
Massimo Pandolfo
David R. Lynch
Ian A. Blair
Sanjay I. Bidichandani
Scientific Reports, 12
[43] Neurodegeneration in Friedreich's Ataxia: From Defective Frataxin to Oxidative Stress
Gomes, Claudio M.
Santos, Renata
OXIDATIVE MEDICINE AND CELLULAR LONGEVITY, 2013, 2013
[44] Clinical experience with high-dose idebenone in Friedreich ataxia
Jörg B. Schulz
Nicholas A. Di Prospero
Kenneth Fischbeck
Journal of Neurology, 2009, 256 : 42 - 45
[45] Fixing frataxin: 'ironing out' the metabolic defect in Friedreich's ataxia
Anzovino, A.
Lane, D. J. R.
Huang, M. L-H
Richardson, D. R.
BRITISH JOURNAL OF PHARMACOLOGY, 2014, 171 (08) : 2174 - 2190
[46] DNA methylation in Friedreich ataxia silences expression of frataxin isoform E
Rodden, Layne N.
Gilliam, Kaitlyn M.
Lam, Christina
Rojsajjakul, Teerapat
Mesaros, Clementina
Dionisi, Chiara
Pook, Mark
Pandolfo, Massimo
Lynch, David R.
Blair, Ian A.
Bidichandani, Sanjay, I
SCIENTIFIC REPORTS, 2022, 12 (01)
[47] Malaysian siblings with Friedreich ataxia and chorea: A novel deletion in the frataxin gene
Spacey, SD
Szczygielski, BI
Young, SP
Hukin, J
Selby, K
Snutch, TP
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2004, 31 (03) : 383 - 386
[48] Clinical experience with high-dose idebenone in Friedreich ataxia
Schulz, Jorg B.
Di Prospero, Nicholas A.
Fischbeck, Kenneth
JOURNAL OF NEUROLOGY, 2009, 256 : 42 - 45
[49] Friedreich ataxia: The clinical picture
Massimo Pandolfo
Journal of Neurology, 2009, 256 : 3 - 8
[50] Clinical Neurogenetics Friedreich Ataxia
Collins, Abigail
NEUROLOGIC CLINICS, 2013, 31 (04) : 1095 - +

← 1 2 3 4 5 →