Accès ouvert
2025
article
OpenAlex
Katariina Granath, Salla M. Kangas, Sanna Huhtaniska, Maria Helena Suo-Palosaari et autres
Objectives: gene. Methods: Two unrelated individuals with early-onset spastic ataxia were evaluated for genetic etiology by exome sequencing. Case reports were compiled through a medical chart review. Two cellular models were established to assess variant pathogenicity. Results: variant included retinal dysfunction detected …
fi
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Accès ouvert
2025
article
OpenAlex
Katariina Granath, Sanna Huhtaniska, Juulia Ellonen, Tytti M.-L. Pokka et autres
BACKGROUND: The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined. OBJECTIVES: The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland. METHODS: A longitudinal population-based cohort study of children with a movement disorder …
fi, it
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Accès ouvert
2023
article
OpenAlex
Jussi‐Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon J. McGowan, David Sims et autres
BACKGROUND: R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital spinocerebellar ataxia type 29 (SCA29), Gillespie syndrome (GLSP), and severe pontine/cerebellar hypoplasia. The pathophysiological basis of the different phenotypes is poorly understood. OBJECTIVES: We aimed …
gb, it, il, fi, ie, es
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