Associated Papers
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
37892996 (PubMed )
Supplement: biomedicines-11-02622-s001.zip › Supplementary_Table_S1_ClC-1_Brenes-Pusch-Morales.xlsx › Hoja1
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Suetterlin K et al.
Brain : a Journal of Neurology, 2022
pTuneos: prioritizing tumor neoantigens from next-generation sequencing data.
Zhou C et al.
Genome Medicine, 2019
31666118 (PubMed )
Supplement: 13073_2019_679_MOESM11_ESM.xlsx › Table_S10.B
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I et al.
Bmc Musculoskeletal Disorders, 2016
27142102 (PubMed )
Supplement: 12891_2016_1058_MOESM1_ESM.docx
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.
Morrow JM et al.
Neuromuscular Disorders : Nmd, 2013
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