Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients

Background: <i>KIF1A</i> (kinesin family member 1A)-related disorders encompass a variety of diseases. <i>KIF1A</i> variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG, OMIM610357), autosomal recessive hereditary sensory and autonomic neur...

Full description

Bibliographic Details
Main Authors: Justyna Paprocka, Aleksandra Jezela-Stanek, Robert Śmigiel, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kaźmierczak, Rafał Płoski, Ewa Emich-Widera, Barbara Steinborn
Format: Article
Language:English
Published: MDPI AG 2023-04-01
Series:Genes
Subjects:
<i>KIF1A</i>
neurodegeneration
SPG30
HSN2C
NESCAV
children
Online Access:https://www.mdpi.com/2073-4425/14/5/972

Internet

https://www.mdpi.com/2073-4425/14/5/972

Similar Items