CLN6‐related continuum phenotype caused by aberrant splicing

Authors: Federica Invernizzi, Barbara Castellotti, Chiara Reale, Celeste Panteghini, Isabel Colangelo, Roberta Solazzi, Francesca Ragona, Lucio Giordano, Jessica Galli, Davide Rossi Sebastiano, Gianluca Marucci, Valeria Cuccarini, Giuseppe Didato, Cinzia Gellera, Barbara Garavaglia, Tiziana Granata, Laura Canafoglia

Source: Epilepsia Open, Vol 10, Iss 1, Pp 348-354 (2025)

Subject Terms: Kufs' disease, neuronal ceroidlipofuscinosis, occipital seizures, photoparoxysmal response, progressive myoclonus epilepsy, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2470-9239

Access URL: https://doaj.org/article/8aebcdaf92ef4dfab45f4b1584c09d3a

Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in GBA-associated Parkinson’s disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol

Authors: Matteo Gastaldi, Diego Franciotta, Mario Cirillo, Sara Prioni, Micol Avenali, Fabrizio Esposito, Chiara Reale, Valentina Leta, Enza Maria Valente, Anna Pichiecchio, Barbara Garavaglia, Roberto Eleopra, Marina Grisoli, Roberto Cilia, Luigi Romito, Maria Grazia Bruzzone, Alessandro Tessitore, Ilaria Palmieri, Giada Cuconato, Fabiana Colucci, Pierfrancesco Mitrotti, Rosita De Micco, Marco Fusar Poli, Silvia Cerri, Mario Stanziano, Ana Bacila, Valentina Franco, Cristina Ghezzi, Antonio Emanuele Elia, Grazia Devigili, Nico Golfrè Andreasi, Federico Cazzaniga, Caterina Galandra, Giancarlo Germani, Gerardo Ongari, Marta Picascia, Mattia Verri, Federica Di Nardo, Simone Aloisio, Mattia Siciliano, Paolo Amami, Sylvie Piacentini, Fabio Moda

Source: BMJ Neurology Open, Vol 5, Iss 2 (2023)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://neurologyopen.bmj.com/content/5/2/e000535.full; https://doaj.org/toc/2632-6140

Access URL: https://doaj.org/article/f4439946eac245c38832074e55e2c953

STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG

Authors: Simon J. Houtman, Hanna C. A. Lammertse, Annemiek A. van Berkel, Ganna Balagura, Elena Gardella, Jennifer R. Ramautar, Chiara Reale, Rikke S. Møller, Federico Zara, Pasquale Striano, Mala Misra-Isrie, Mieke M. van Haelst, Marc Engelen, Titia L. van Zuijen, Huibert D. Mansvelder, Matthijs Verhage, Hilgo Bruining, Klaus Linkenkaer-Hansen

Source: Frontiers in Physiology, Vol 12 (2021)

Subject Terms: MUNC18-1, SNAREopathies, EEG, excitation-inhibition balance, fE/I, aperiodic exponent, Physiology, QP1-981

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphys.2021.775172/full; https://doaj.org/toc/1664-042X

Access URL: https://doaj.org/article/2051e28d09a04bf988039f931543cba7

Idiopathic brain calcification in a patient with hereditary hemochromatosis

Authors: Stefania Scarlini, Francesco Cavallieri, Massimo Fiorini, Elisa Menozzi, Francesca Ferrara, Francesca Cavalleri, Chiara Reale, Barbara Garavaglia, Antonello Pietrangelo, Franco Valzania, Elena Corradini

Source: BMC Neurology, Vol 20, Iss 1, Pp 1-5 (2020)

Subject Terms: Basal ganglia, Brain calcification, Calcium, Hereditary hemochromatosis, Iron, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-020-01689-1; https://doaj.org/toc/1471-2377

Access URL: https://doaj.org/article/7d446107f3444e1798cdcc44b05cada3

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

Authors: Davide Tonduti, Celeste Panteghini, Anna Pichiecchio, Alice Decio, Miryam Carecchio, Chiara Reale, Isabella Moroni, Nardo Nardocci, Jaume Campistol, Angela Garcia-Cazorla, Belen Perez Duenas, Cerebral Calcification International Study Group, Luisa Chiapparini, Barbara Garavaglia, Simona Orcesi

Source: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)

Subject Terms: Cerebral calcification, Leukodystrophy, Aicardi-Goutières syndrome, Next generation sequencing, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0854-y; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/11b85c2596e742bb992fba6b32048603

Multiple Genetic Rare Variants in Autism Spectrum Disorders: A Single-Center Targeted NGS Study

Authors: Chiara Reale, Valeria Tessarollo, Sara Bulgheroni, Silvia Annunziata, Andrea Legati, Daria Riva, Chiara Pantaleoni, Barbara Garavaglia, Stefano D’Arrigo

Source: Applied Sciences, Vol 11, Iss 17, p 8096 (2021)

Subject Terms: autism spectrum disorder, targeted gene panel, rare inherited variants, family segregation, genetic makeup, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3417/11/17/8096; https://doaj.org/toc/2076-3417

Access URL: https://doaj.org/article/4ac7937c687b4a149435a9f9029e9d2e

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