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Italian Journal of Pediatrics|October 13, 2021
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variantsMarcello Scala, Midas Anijs, Roberta Battini, et al.
Annals of Clinical and Translational Neurology|April 3, 2020
Expanding the clinical and genetic heterogeneity of SPAX5Claudia Dosi, Daniele Galatolo, Anna Rubegni, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 27, 2017
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1Anna Rubegni, Tiziana Pisano, Giacomo Bacci, et al.
Orphanet Journal of Rare Diseases|July 11, 2021
Clinical, molecular and glycophenotype insights in SLC39A8-CDGEleonora Bonaventura, Rita Barone, Luisa Sturiale, et al.
Pediatric Neurology|February 12, 2023
Content Validation of the Movement Disorder-Childhood Rating Scale (MD-CRS) for Dyskinetic Cerebral PalsyDaniel O Claassen, Heather R Riordan, Leon S Dure, et al.
Frontiers in Neurology|March 15, 2021
A Retrospective Longitudinal Study in a Cohort of Children With Dyskinetic Cerebral Palsy Treated With TetrabenazineRoberta Scalise, Giuseppina Sgandurra, Valentina Menici, et al.
Neurocase|June 24, 2008
Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defectAnna Chilosi, Vincenzo Leuzzi, Roberta Battini, et al.
European Journal of Physical and Rehabilitation Medicine|July 18, 2017
Inter and intra-rater reliability and minimal detectable difference of Movement Disorder-Childhood Rating ScaleGiuseppina Sgandurra, Ilaria Olivieri, Manuela Casarano, et al.
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