Reshmi Ramakrishnan

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Publications (12)

• AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
  ACTA NEUROPATHOLOGICA 2023 DOI: 10.1007/S00401-023-02579-9
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• Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders
  NEUROLOGY 2023 DOI: 10.1212/WNL.0000000000203263
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• Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders
  PARKINSONISM & RELATED DISORDERS 2023 DOI: 10.1016/J.PARKRELDIS.2023.105323
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• Loss-of-function of AMFR causes autosomal recessive hereditary spastic paraplegia by altering lipid metabolism
  EUROPEAN JOURNAL OF HUMAN GENETICS 2023
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• Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
  EUROPEAN JOURNAL OF HUMAN GENETICS 2022
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• Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia
  FRONTIERS IN PEDIATRICS 2021 DOI: 10.3389/FPED.2021.582816
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• Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
  GENETICS IN MEDICINE 2021 DOI: 10.1038/S41436-021-01246-2
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• Protein Homeostasis Database: protein quality control in E.coli
  BIOINFORMATICS 2020 DOI: 10.1093/BIOINFORMATICS/BTZ628
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• Differential proteostatic regulation of insoluble and abundant proteins
  BIOINFORMATICS 2019 DOI: 10.1093/BIOINFORMATICS/BTZ214
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• Structural Basis of the Subcellular Topology Landscape of Escherichia coli
  FRONTIERS IN MICROBIOLOGY 2019 DOI: 10.3389/FMICB.2019.01670
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