Annarita Scardamaglia

Employment

• University College London

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (24)

• Partial loss ofFITM2function causes hereditary spastic paraplegia
  2025 DOI: 10.1101/2025.01.23.24319660
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• Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
  American Journal of Human Genetics 2025 DOI: 10.1016/j.ajhg.2025.03.015
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• Charcot Marie Tooth disease pathology is associated with mitochondrial dysfunction and lower glutathione production
  Cellular and Molecular Life Sciences 2025 DOI: 10.1007/s00018-025-05612-0
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• Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
  Genetics in Medicine 2025 DOI: 10.1016/j.gim.2024.101278
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• Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin
  Nature Communications 2025 DOI: 10.1038/s41467-025-59553-0
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• Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy
  Brain 2025 DOI: 10.1093/brain/awaf134
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• MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
  Medrxiv 2025 DOI: 10.1101/2025.08.28.25330873
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• PIGC-related encephalopathy: Lessons learned from 18 new probands
  European Journal of Human Genetics 2025 DOI: 10.1038/s41431-025-01923-9
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• Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction
  Medrxiv 2025 DOI: 10.1101/2025.04.30.25326597
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• The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder
  Movement Disorders 2025 DOI: 10.1002/mds.30077
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