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

[1] Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia
Deutsch, Eric C.
Oglesbee, Devin
Greeley, Nathaniel R.
Lynch, David R.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2014, 85 (09): : 994 - 1002
[2] Frataxin and frataxin deficiency in Friedreich's ataxia
Wilson, RB
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2003, 207 (1-2) : 103 - 105
[3] Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich's Ataxia Blood
Wang, Qingqing
Laboureur, Laurent
Weng, Liwei
Eskenazi, Nicolas M.
Hauser, Lauren A.
Mesaros, Clementina
Lynch, David R.
Blair, Ian A.
FRONTIERS IN NEUROSCIENCE, 2022, 16
[4] Correlation of Frataxin Content in Blood and Skeletal Muscle Endorses Frataxin as a Biomarker in Friedreich Ataxia
Nachbauer, Wolfgang
Wanschitz, Julia
Steinkellner, Hannes
Eigentler, Andreas
Sturm, Brigitte
Hufler, Kurt
Scheiber-Mojdehkar, Barbara
Poewe, Werner
Reindl, Markus
Boesch, Sylvia
MOVEMENT DISORDERS, 2011, 26 (10) : 1935 - 1938
[5] Friedreich ataxia and frataxin levels.
Miranda, C
Santos, M
Ohshima, K
Smith, J
Koenig, M
Kaplan, J
Pandolfo, M
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 652 - 652
[6] Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers
Pianese, L
Turano, M
Lo Casale, MS
De Biase, I
Giacchetti, M
Monticelli, A
Criscuolo, C
Filla, A
Cocozza, S
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2004, 75 (07): : 1061 - 1063
[7] Gene Expression Quantification to Assess Frataxin Replacement Therapies in Friedreich's Ataxia
Baile, M.
Schecter, D.
Miller, A.
Galas, T.
Scherer, N.
Chen, R.
Ruiz, N.
Bettoun, D.
MOVEMENT DISORDERS, 2022, 37 : S388 - S388
[8] The pathogenesis of Friedreich ataxia and the structure and function of frataxin
Pandolfo, Massimo
Pastore, Annalisa
JOURNAL OF NEUROLOGY, 2009, 256 : 9 - 17
[9] Friedreich's Ataxia - A Clinical Diagnosis
Islam, Md. Fekarul
Mukherjee, Devdeep
Kundu, Ritabrata
Das, Joydeep
JOURNAL OF KRISHNA INSTITUTE OF MEDICAL SCIENCES UNIVERSITY, 2015, 4 (01) : 139 - 141
[10] The pathogenesis of Friedreich ataxia and the structure and function of frataxin
Massimo Pandolfo
Annalisa Pastore
Journal of Neurology, 2009, 256 : 9 - 17

← 1 2 3 4 5 →