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UnknownCerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model.
Not available
S-EPMC6080355 | biostudies-literature
UnknownA murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.
Not available
S-EPMC12274407 | biostudies-literature
UnknownTargeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.
Not available
S-EPMC3746875 | biostudies-literature
UnknownEstrogen-Related Receptor Agonism Reverses Mitochondrial Dysfunction and Inflammation in the Aging Kidney.
Not available
S-EPMC10734281 | biostudies-literature
UnknownBi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Not available
S-EPMC6288279 | biostudies-literature
UnknownRecurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Not available
S-EPMC4572501 | biostudies-literature
UnknownLysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Not available
S-EPMC6562152 | biostudies-literature
UnknownBi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Not available
S-EPMC9918471 | biostudies-literature
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