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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

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Joanna Wawrzyniak

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Case report Open access Sep 2026

Motor, Postural, and Communicative Phenotype in SHQ1-Related Neurodevelopmental Disorder with Dystonia and Seizures: An Interdisciplinary Case Report and Hypothesis-Generating Physiotherapy Framework

Background: Biallelic variants in SHQ1 (SHQ1 homolog; H/ACA small nucleolar ribonucleoprotein assembly factor) cause neurodevelopmental disorder with dystonia and seizures (NEDDS), but descriptions of spontaneous motor organization, functional communication, and rehabilitation-relevant abilities remain limited. Case: W...

Artur Polczyk, Natalia Banaszek-Hurła, Ewelina Wolańska et al. · 0 citations

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