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1. De novo mutations in KIF1A-associated neuronal disorder (KAND) dominant-negatively inhibit motor act…
2. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature r…
3. Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KI…
4. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A…
5. A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during th…

1. Antiretroviral Therapy and Inflammatory and Coagulation Biomarkers: iMACS Study
2. Integrated Molecular Analysis of Cancer in Gynaecologic Oncology (IMAC-GO)
3. An Exploratory Study on the Efficacy and Safety of Abatacept in the Treatment of Refractory Dermatom…
4. Self Assessment of Fetal Ultrasound Images
5. Allogeneic Mitochondria (PN-101) Transplantation for Refractory Polymyositis or Dermatomyositis