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List of works by Alkyoni Athanasiou-Fragkouli

A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia

scientific article published on 18 May 2020

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

scientific article published on 26 May 2020

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

scientific article published on 01 March 2020

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

scientific article published on 04 May 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

scientific article published on 31 July 2020

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

scientific article published on 15 September 2020

Negative screening for 12 rare LRRK2 pathogenic variants in a cohort of Nigerians with Parkinson's disease

scientific article published on 01 October 2020

Neuronal intranuclear inclusion disease is genetically heterogeneous

scientific article published on 10 August 2020

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