Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome

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Main Authors: L. Silva-Hernández, B. Cabal-Paz, J. Jiménez-Almonacid, E. González-Vioque, J. Bohm
Format: Article
Language:Spanish
Published: Elsevier España 2025-01-01
Series:Neurología
Online Access:http://www.sciencedirect.com/science/article/pii/S0213485324001397
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author L. Silva-Hernández
B. Cabal-Paz
J. Jiménez-Almonacid
E. González-Vioque
J. Bohm
author_facet L. Silva-Hernández
B. Cabal-Paz
J. Jiménez-Almonacid
E. González-Vioque
J. Bohm
author_sort L. Silva-Hernández
collection DOAJ
format Article
id doaj-art-1423bc8755c0472cbd192e9e8ce14696
institution Kabale University
issn 0213-4853
language Spanish
publishDate 2025-01-01
publisher Elsevier España
record_format Article
series Neurología
spelling doaj-art-1423bc8755c0472cbd192e9e8ce146962025-01-17T04:49:01ZspaElsevier EspañaNeurología0213-48532025-01-014018991Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndromeL. Silva-Hernández0B. Cabal-Paz1J. Jiménez-Almonacid2E. González-Vioque3J. Bohm4Coordinador Grupo de Enfermedades Neuromusculares, Servicio de Neurología, Hospital Puerta de Hierro Majadahonda, Majadahonda, Madrid, Spain; Corresponding author.Servicio de Neurología, Hospital Puerta de Hierro Majadahonda, Majadahonda, Madrid, SpainServicio de Anatomía Patológica, Hospital 12 de Octubre, Madrid, SpainServicio de Bioquímica, Hospital Puerta de Hierro Majadahonda, Majadahonda, Madrid, SpainInserm Research Director IGBMC, Strasbourg, Francehttp://www.sciencedirect.com/science/article/pii/S0213485324001397
spellingShingle L. Silva-Hernández
B. Cabal-Paz
J. Jiménez-Almonacid
E. González-Vioque
J. Bohm
Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome
Neurología
title Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome
title_full Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome
title_fullStr Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome
title_full_unstemmed Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome
title_short Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome
title_sort clinical variability in stim1 variant c 262a g associated with stormorken syndrome
url http://www.sciencedirect.com/science/article/pii/S0213485324001397
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AT bcabalpaz clinicalvariabilityinstim1variantc262agassociatedwithstormorkensyndrome
AT jjimenezalmonacid clinicalvariabilityinstim1variantc262agassociatedwithstormorkensyndrome
AT egonzalezvioque clinicalvariabilityinstim1variantc262agassociatedwithstormorkensyndrome
AT jbohm clinicalvariabilityinstim1variantc262agassociatedwithstormorkensyndrome