Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier
Jana Vasova, Cinzia Rinaldo, Francesca Sardina, Anna Pecková et autres
0 citationsNeurogenetics
Anna Pecková
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5Publications signalées
7Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesHereditary Neurological DisordersGenetics and Neurodevelopmental DisordersNeurogenetic and Muscular Disorders ResearchBotulinum Toxin and Related Neurological Disorders
Publications récentes
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Camille Engel, Michaela Rendek, Jessica Assoumani, Emanuela Argilli et autres
0 citationsEuropean Journal of Human Genetics
Genotype–phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality
Anna Uhrova Meszarosova, Elea Galiart, Petra Lassuthova, Konstantinos Kolokotronis et autres
3 citationsFrontiers in Medicine
Genotype–phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality
Anna Uhrova Meszarosova, Elea Galiart, Petra Lassuthova, Konstantinos Kolokotronis et autres
0 citationsZurich Open Repository and Archive (University of Zurich)
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Camille Engel, Michaela Rendek, Jessica Assoumani, Emanuela Argilli et autres
4 citationsEuropean Journal of Human Genetics
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