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UnknownCharacterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Not available
S-EPMC12404708 | biostudies-literature
UnknownAsparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties.
Not available
S-EPMC12513288 | biostudies-literature
UnknownPreservation of protein dynamics in dihydrofolate reductase evolution.
Not available
S-EPMC3861645 | biostudies-literature
UnknownCryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.
Not available
S-EPMC5513089 | biostudies-literature
UnknownThe recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Not available
S-EPMC10996746 | biostudies-literature
UnknownDecreased Plasma Levels of Kynurenine and Kynurenic Acid in Previously Treated and First-Episode Antipsychotic-Naive Schizophrenia Patients.
Not available
S-EPMC10741951 | biostudies-literature
UnknownHomozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Not available
S-EPMC10393394 | biostudies-literature
UnknownWatch and Wait Management of Inactive Cystic Echinococcosis - Does the Path to Inactivity Matter - Analysis of a Prospective Patient Cohort.
Not available
S-EPMC5207761 | biostudies-literature
UnknownLiposomal and Liposomes-Film Systems as Carriers for Bioactives from Paeonia tenuifolia L. Petals: Physicochemical Characterization and Biological Potential.
Not available
S-EPMC10747293 | biostudies-literature
UnknownDistinctive frequencies of +874T/A IFN-γ gene polymorphism in a healthy Serbian population.
Not available
S-EPMC5350806 | biostudies-literature
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