Alpha 2.0
Login Register
» Articles » PMID: 23225201

A New SCARB2 Mutation in a Patient with Progressive Myoclonus Ataxia Without Renal Failure

Overview
Journal Mov Disord
Date 2012 Dec 11
PMID 23225201
Citations 5
Authors
Rosa Guerrero-Lopez
Pedro J Garcia-Ruiz
Beatriz G Giraldez
Carmen Duran-Herrera
Maria Rosa Querol-Pascual
Jose Maria Ramirez-Moreno
Sebastian Mas
Jose M Serratosa
Affiliations
Soon will be listed here.
Citing Articles

Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.

Pavan E, Peruzzo P, Cattarossi S, Bergamin N, Bordugo A, Sechi A Int J Mol Sci. 2024; 25(12).

PMID: 38928321 PMC: 11204053. DOI: 10.3390/ijms25126615.

Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.

Atasu B, Ozdag Acarli A, Bilgic B, Baykan B, Demir E, Ozluk Y BMC Neurol. 2022; 22(1):122.

PMID: 35346091 PMC: 8962058. DOI: 10.1186/s12883-022-02628-y.

Myoclonus-Ataxia Syndromes: A Diagnostic Approach.

Rossi M, van der Veen S, Merello M, Tijssen M, van de Warrenburg B Mov Disord Clin Pract. 2021; 8(1):9-24.

PMID: 33426154 PMC: 7780951. DOI: 10.1002/mdc3.13106.

Movement Disorders and Renal Diseases.

Bhowmick S, Lang A Mov Disord Clin Pract. 2020; 7(7):763-779.

PMID: 33043074 PMC: 7534014. DOI: 10.1002/mdc3.13005.

Identification of a Novel Homozygous Splice-Site Mutation in that Causes Progressive Myoclonus Epilepsy with or without Renal Failure.

He J, Lin H, Li J, Su H, Wang D, Lin Y Chin Med J (Engl). 2018; 131(13):1575-1583.

PMID: 29941711 PMC: 6032684. DOI: 10.4103/0366-6999.235113.