A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure-Reference-Cited by-同舟云学术

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A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure

Published:2013-12-11 Issue:1 Volume:29 Page:158-159
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Perandones Claudia¹,Pellene Luis Alejandro¹,Micheli Federcio²

Affiliation:

1. Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín; University of Buenos Aires; Argentina

2. National Administration of Laboratories and Health Institutes of Argentina; ANLIS, Dr. Carlos G. Malbrán Argentina

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.25738/fullpdf

Reference5 articles.

1. A newSCARB2mutation in a patient with progressive myoclonus ataxia without renal failure

2. A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2

3. Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy;Ceranić;J Neurol Neurosurg Psychiatry,2004

4. Unilateral auditory neuropathy spectrum disorder;Zhang;Acta Otolaryngol,2012

5. LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice;Gamp;Hum Mol Genet,2003

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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;Parkinsonism & Related Disorders;2022-01

3. Health Literacy in the Context of Health Inequality – A Framing and a Research Overview;Gesundheit und Gesellschaft;2020-11-21

4. Myoclonus‐Ataxia Syndromes: A Diagnostic Approach;Movement Disorders Clinical Practice;2020-11-03

5. Drug Treatment of Progressive Myoclonic Epilepsy;Pediatric Drugs;2020-01-14

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