Carlos Casasnovas Pons
University of Barcelona
45 papers found
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RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
Download from doi.orgSphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
Download from doi.orgDrug‐refractory myasthenia gravis: Clinical characteristics, treatments, and outcome
Download from doi.orgA novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy
Download from api.wiley.comA deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases
Download from doi.orgPlasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients
Download from doi.orgCauses of neuropathy in patients referred as “Idiopathic neuropathy”
UploadTitin antibodies in “seronegative” myasthenia gravis – A new role for an old antigen
Download from www.researchgate.netMuSK autoantibodies in myasthenia gravis detected by cell based assay — A multinational study
Download from www.researchgate.netMyasthenia gravis: descriptive analysis of life-threatening events in a recent nationwide registry
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