Publications by authors named "Claudio Catalli"

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Deep Brain Stimulation for Status Dyskineticus in ADCY5-Related Dyskinesia in a 60-Year-Old Woman.
Ana Moreno-Estébanez, Marta Ruiz-Lopez, Beatriz Tijero, Tamara Fernández-Valle, Miren Edurne Ruiz de Gopegui, Claudio Catalli

Mov Disord Clin Pract· November 2025

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Modulation of NEAT1 and MALAT1 expression in WJ-MSCs by Covid-19 serum: a foundation for EVs-mediated therapy.
Arantza Infante, Leire Cabodevilla, Blanca Gener, Daniela Gerovska, Marcos J Araúzo Bravo, Claudio Catalli

Respir Res· November 2025

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Pearls & Oy-sters: -Related Dyskinesia: From a Longstanding Misdiagnosis of Drug-Resistant Epilepsy.
Ana Moreno-Estébanez, Miriam Sánchez-Horvath, Ainhoa Marinas, Claudio Catalli, Tamara Fernandez-Valle

Neurology· May 2025

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Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer's Disease (CuAD): Characterization of the Cognitive Profile and Case of a CuAD Patient Carrying an Stop-Loss Variant.
Rosanna Squitti, Claudio Catalli, Laura Gigante, Massimo Marianetti, Mattia Rosari

Int J Mol Sci· March 2023

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Neuropsychological Profile of Hereditary Ataxias: Study of 38 Patients.
Maitane García, Idoia Rouco-Axpe, Imanol Amayra, Alfredo Rodríguez-Antigüedad, Claudio Catalli

Arch Clin Neuropsychol· July 2022

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Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Luis R Lopes, Soledad Garcia-Hernández, Massimiliano Lorenzini, Marta Futema, Olga Chumakova, Claudio Catalli

Eur Heart J· August 2021

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A novel mutation of RASA1 in capillary malformation-arteriovenous malformation syndrome in a case with spinal cord involvement.
Ana Moreno-Estébanez, Jose María Losada Domingo, Claudio Catalli, Tirso González-Pinto González, Garazi Agirre-Beitia

Clin Neurol Neurosurg· August 2020

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A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.
Liana Veneziano, Elide Mantuano, Claudio Catalli, Cinzia Gellera, Alexandra Durr

J Hum Genet· March 2014

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Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
Erik-Jan Kamsteeg, Wolfram Kress, Claudio Catalli, Jens M Hertz, Martina Witsch-Baumgartner

Eur J Hum Genet· December 2012

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Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency.
Gaetano Vattemi, Marcella Neri, Matteo Marini, Francesca Gualandi, Paola Tonin, Claudio Catalli

Neurologist· September 2012

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Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).
Claudio Catalli, Alessandra Morgante, Raniero Iraci, Fabrizio Rinaldi, Annalisa Botta

J Mol Diagn· September 2010

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