Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To present genetics, clinical description and natural history of the disease in four members of a Polish family with novel variants in the SACS…Are we speaking the same language? A pilot study to evaluate the agreement in clinical phenotyping of children with cerebral palsy
Objective: The aim of this pilot study was determine the agreement of phenotypical classification of children with cerebral palsy among clinicians. Background: Cerebral palsy (CP)…
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