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Kristina Zhelcheska | Researchclopedia

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Kristina Zhelcheska

National Hospital for Neurology and Neurosurgery

3

Works

35

Citations

2

h-index

1

i10-index

Research Topics

Mitochondrial Function and Pathology RNA and protein synthesis mechanisms Genetic Neurodegenerative Diseases

Affiliations

National Hospital for Neurology and Neurosurgery2022–2025

University College London2022–2025

Top Works

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Heba Morsy,Mehdi Benkirane,et al.

202226 citations

Genomics and Rare Diseases

Genetics and Neurodevelopmental Disorders

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

Quentin Thomas,Marialetizia Motta,et al.

20229 citations

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

Natalia Dominik,Stéphanie Efthymiou,et al.

20250 citations