José Andrés González Coraspe
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View article: Biochemical and pathological changes result from mutated Caveolin-3 in muscle
Biochemical and pathological changes result from mutated Caveolin-3 in muscle Open
View article: GNE myopathy: from clinics and genetics to pathology and research strategies
GNE myopathy: from clinics and genetics to pathology and research strategies Open
View article: Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy Open
Introduction Earlier small case series and clinical observations reported on chronic pain playing an important role in facioscapulohumeral dystrophy (FSHD). The aim of this study was to determine the characteristics and impact of pain on q…
View article: In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome
In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome Open
SIL1 is a ubiquitous protein of the Endoplasmic Reticulum (ER) acting as a co-chaperone for the ER-resident chaperone, BiP. Recessive mutations of the corresponding gene lead to vulnerability of skeletal muscle and central nervous system i…
View article: <i>Sil1</i>-Mutant Mice Elucidate Chaperone Function in Neurological Disorders
<i>Sil1</i>-Mutant Mice Elucidate Chaperone Function in Neurological Disorders Open
Chaperone dysfunction leading to the build-up of misfolded proteins could frequently be linked to clinical manifestations also affecting the nervous system and the skeletal muscle. In addition, increase in chaperone function is beneficial …