A diagnosis of progressive myoclonic ataxia guided by blood biomarkers-Reference-Cited by-同舟云学术

A diagnosis of progressive myoclonic ataxia guided by blood biomarkers

Published:2022-01 Issue: Volume:94 Page:124-126
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Dubot Patricia,Rafiq Marie,Curot Jonathan,Simonetta-Moreau Marion,Sabourdy Frédérique,Pettazzoni Magali,Froissart Roseline,Levade Thierry,Ory-Magne Fabienne

Funder

Université Toulouse III - Paul Sabatier

Institut National de la Santé et de la Recherche Médicale

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference8 articles.

1. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis;Berkovic;Am. J. Hum. Genet.,2008

2. SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome;Dibbens;Epileptic Disord.,2016

3. Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review;Tian;Seizure,2018

4. A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2;Perandones;Mov. Disord.,2012

5. A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure;Perandones;Mov. Disord.,2014

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1. Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions;International Journal of Molecular Sciences;2024-06-16

2. A diagnosis of progressive myoclonic ataxia guided by blood biomarkers: Expert commentary;Parkinsonism & Related Disorders;2022-01