De Novo 1q21.3q22 Duplication Revaluation in a “Cold” Complex Neuropsychiatric Case with Syndromic Intellectual Disability by Roberta Milone, Roberta Scalise, Rosa Pasquariello, Stefano Berloffa, Ivana Ricca, Roberta Battini

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NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review by Stefania Della Vecchia, Alessandra Tessa, Rosa Pasquariello, Luis Seabra, Yanick J. Crow, Roberta Battini

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Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review by Stefania Della Vecchia, Roberta Milone, Romina Cagiano, Sara Calderoni, Elisa Santocchi, Rosa Pasquariello, Roberta Battini, Filippo Muratori

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KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report by Bianca Buchignani, Gemma Marinella, Rosa Pasquariello, Giada Sgherri, Silvia Frosini, Filippo Maria Santorelli, Alessandro Orsini, Roberta Battini, Guja Astrea

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Neuroanatomical correlates of childhood apraxia of speech: A connectomic approach by Simona Fiori, Andrea Guzzetta, Jhimli Mitra, Kerstin Pannek, Rosa Pasquariello, Paola Cipriani, Michela Tosetti, Giovanni Cioni, Stephen E Rose, Anna Chilosi

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Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional Perspective by Anna Maria Chilosi, Irina Podda, Ivana Ricca, Alessandro Comparini, Beatrice Franchi, Simona Fiori, Rosa Pasquariello, Claudia Casalini, Paola Cipriani, Filippo Maria Santorelli

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Expanding the clinical and genetic heterogeneity of SPAX5 by Claudia Dosi, Daniele Galatolo, Anna Rubegni, Stefano Doccini, Rosa Pasquariello, Claudia Nesti, Federico Sicca, Melissa Barghigiani, Roberta Battini, Alessandra Tessa, Filippo M. Santorelli

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Phenotypic Definition and Genotype-Phenotype Correlates in PMPCA-Related Disease by Valentina Serpieri, Tommaso Biagini, Concetta Mazzotta, Rosa Pasquariello, Anna Rubegni, Filippo Santorelli, Gerardo Ongari, Silvia Cerri, Tommaso Mazza, Roberta Battini, Enza Maria Valente

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Clinical, molecular and glycophenotype insights in SLC39A8-CDG by Eleonora Bonaventura, Rita Barone, Luisa Sturiale, Rosa Pasquariello, Maria Grazia Alessandrì, Anna Maria Pinto, Alessandra Renieri, Celeste Panteghini, Barbara Garavaglia, Giovanni Cioni, Roberta Battini

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Congenital Myopathy as a Phenotypic Expression of <i>CACNA1S</i> Gene Mutation: Case Report and Systematic Review of the Literature by Gemma Marinella, Alessandro Orsini, Massimo Scacciati, Elisa Costa, Andrea Santangelo, Guja Astrea, Silvia Frosini, Rosa Pasquariello, Anna Rubegni, Giada Sgherri, Martina Corsi, Alice Bonuccelli, Roberta Battini

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Novel <i>COX11</i> Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and <i>Saccharomyces cerevisiae</i> by Chenelle A. Caron-Godon, Stefania Della Vecchia, Alessandro Romano, Stefano Doccini, Flavio Dal Canto, Rosa Pasquariello, Anna Rubegni, Roberta Battini, Filippo Maria Santorelli, D. Moira Glerum, Claudia Nesti

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Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab by Elena Scaffei, Elena Scaffei, Bianca Buchignani, Rosa Pasquariello, Paola Cristofani, Raffaello Canapicchi, Laura Biagi, Flavio Giordano, Flavio Giordano, Emanuela De Marco, Yanick J. Crow, Yanick J. Crow, Roberta Battini, Roberta Battini

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Case report: Exploring chemoradiotherapy-induced leukoencephalopathy with 7T imaging and quantitative susceptibility mapping by Gaetano Celardo, Gaetano Celardo, Elena Scaffei, Bianca Buchignani, Bianca Buchignani, Graziella Donatelli, Graziella Donatelli, Mauro Costagli, Mauro Costagli, Paola Cristofani, Raffaello Canapicchi, Rosa Pasquariello, Michela Tosetti, Roberta Battini, Roberta Battini, Laura Biagi

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A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing by Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Filosto, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E. Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M. Santorelli, Roberta Battini

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