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Human Molecular Genetics|December 28, 2020
Brain cell type-specific endocytosis of arylsulfatase A identifies limitations of enzyme-based therapies for metachromatic leukodystrophyDebora Kaminski, Claudia Yaghootfam, Frank Matthes, et al.Human Molecular Genetics|December 29, 2020
Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth diseaseLara Cantarero, Elena Juárez-Escoto, Azahara Civera-Tregón, et al.Human Molecular Genetics|July 10, 2021
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gatingYongqiang Zhang, Georgios Tachtsidis, Claudia Schob, et al.Human Molecular Genetics|January 13, 2021
Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidomeKathryn A McGurk, Simon G Williams, Hui Guo, et al.Human Molecular Genetics|January 13, 2021
Evolutionary genetics of skin pigmentation in African populationsYuanqing Feng, Michael A McQuillan, Sarah A TishkoffHuman Molecular Genetics|January 13, 2021
Differentiation of glioblastoma stem cells promoted by miR-128 or miR-302a overexpression enhances senescence-associated cytotoxicity of axitinibAna M Cardoso, Catarina M Morais, Frederico Pena, et al.Human Molecular Genetics|June 16, 2022
Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxiaYanjie Li, Jixue Li, Jun Wang, et al.Human Molecular Genetics|June 16, 2022
Cerebellar contribution to threat probability in a SCA6 mouse modelPauline Bohne, Max Rybarski, Damian Boden-El Mourabit, et al.Human Molecular Genetics|January 7, 2023
Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndromeMidhat Rizvi, Tina K Truong, Janet Zhou, et al.Human Molecular Genetics|January 8, 2023
Epigenetic gestational age and the relationship with developmental milestones in early childhoodKristen J Polinski, Sonia L Robinson, Diane L Putnick, et al.Pageof 1,195