IRCCS Fondazione Stella Maris

Research facility


Location: Marina di Pisa-Tirrenia-Calambrone, Italy (IT) IT

ISNI: 0000000417579821

ROR: https://ror.org/02w8ez808

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

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To

Abstract

Journal

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization (2025) Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsmaa EK, et al. Journal article BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024) Peron A, D’Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, et al. Journal article Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia (2023) Alecu JE, Saffari A, Ziegler M, Jordan C, Tam A, Kim S, Leung E, et al. Journal article Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking (2020) Behne R, Teinert J, Wimmer M, D'Amore A, Davies AK, Scarrott JM, Eberhardt K, et al. Journal article Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes (2019) Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, et al. Journal article De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018) Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, et al. Journal article Focal cortical dysplasia type IIb in the rolandic cortex: Functional reorganization after early surgery documented by passive task functional MRI (2012) Barba C, Montanaro D, Frijia F, Giordano F, Blümcke I, Genitori L, De Masi F, Guerrini R Journal article