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Claudio Catalli

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2
2012 · Erik-Jan Kamsteeg, Wolfram Kress, et al. · European Journal of Human Genetics · 172
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
2021 · Irene Perea-Romero, Gema Gordo, et al. · Scientific Reports · 150
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Alpha-protein kinase 3 ( ALPK3 ) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy
2021 · Luis R Lopes, Soledad Garcia-Hernández, et al. · European Heart Journal · 104
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The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients
2008 · A Botta, F Rinaldi, et al. · Journal of Medical Genetics · 55
Reduced Cancer Incidence in Huntington’s Disease: Analysis in the Registry Study
2018 · Paul McNulty, Richard Pilcher, et al. · Journal of Huntington s Disease · 37
Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)
2010 · Claudio Catalli, Alessandra Morgante, et al. · Journal of Molecular Diagnostics · 31
Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer’s Disease (CuAD): Characterization of the Cognitive Profile and Case of a CuAD Patient Carrying an RGS7 Stop-Loss Variant
2023 · Rosanna Squitti, Claudio Catalli, et al. · International Journal of Molecular Sciences · 25
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
2021 · Irene Perea-Romero, Gema Gordo, et al. · Scientific Reports · 14
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A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation
2014 · Liana Veneziano, Elide Mantuano, et al. · Journal of Human Genetics · 8
Neuropsychological Profile of Hereditary Ataxias: Study of 38 Patients
2022 · Maitane García, Idoia Rouco-Axpe, et al. · Archives of Clinical Neuropsychology · 7
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Deep Brain Stimulation for Status Dyskineticus in ADCY5 ‐Related Dyskinesia in a 60‐Year‐Old Woman
2025 · Ana Moreno‐Estébanez, Marta Ruiz‐Lopez, et al. · Movement Disorders Clinical Practice · 5
Pearls & Oy-sters: ADCY5 -Related Dyskinesia
2025 · Ana Moreno-Estébanez, Miriam Sánchez-Horvath, et al. · Neurology · 3
A novel mutation of RASA1 in capillary malformation-arteriovenous malformation syndrome in a case with spinal cord involvement
2020 · Ana Moreno-Estébanez, Jose María Losada Domingo, et al. · Clinical Neurology and Neurosurgery · 3
P114 – 2576: Hypokalemic periodic paralysis: A case report based on clinical and genetic findings
2015 · A. Mosquera Gorostidi, S.E. Zarikian Denis, et al. · European Journal of Paediatric Neurology · 2
Mutations in MME gene causing distal hereditary motor neuropathy and MCI-AD
2021 · Adriana Barquín Toca, Amaia Martínez Arroyo, et al. · Journal of the Neurological Sciences · 1
Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients.
2008 · F Rinaldi, A Botta, et al. · PubMed · 1
A Large Spanish Cohort Study Defines SCA27B Distinct Clinical Phenotype and its Longitudinal Progression
2026 · Ana Vinagre-Aragón, Gonzalo Olmedo-Saura, et al. · medRxiv
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Modulation of NEAT1 and MALAT1 expression in WJ-MSCs by Covid-19 serum: a foundation for EVs-mediated therapy
2025 · Arantza Infante, Leire Cabodevilla, et al. · Respiratory Research
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22935 - Síndrome Pura. Un Nuevo Reto Diagnóstico Dentro De Las Encefalopatías Epilépticas
2025 · N. Marcos Fernández, P. de Ceballos Cerrajería, et al. · Neurology Perspectives
22066 - Efectividad De La 4-aminopiridina (4-ap) En Pacientes Con Sca27b. ¿tenemos Finalmente Un Tratamiento Efectivo En El Mundo De Las Sca?
2025 · Á. López Prado, C. Catalli, et al. · Neurology Perspectives
22497 - Frecuencia Y Características Clínicas De La Ataxia Espinocerebelosa 27b En Una Cohorte Española Con Ataxia Cerebelosa De Aparición Tardía
2025 · A. Vinagre Aragón, I. Albajar Gómez, et al. · Neurology Perspectives
VP.88 Characterisation of cell culture models of myotonic dystrophy type I by In-Cell Western technology and digital droplet PCR
2022 · A. López-Martínez, P. Soblechero-Martín, et al. · Neuromuscular Disorders
Selective Pseudohypertrophy of Vastus Medialis Muscles Associated With Calpain 3 Deficiency
2012 · Gaetano Vattemi, Marcella Neri, et al. · The Neurologist
P18 Variant triplet repeats in the CTG expansion of DMPK affect stability of the expanded region and may contribute to unusual symptoms observed in some myotonic dystrophy type 1 cases
2010 · C. Braida, G. Stapleton, et al. · Neuromuscular Disorders
D.P.4.07 In vitro study of DM1 primary myotubes
2008 · E. Loro, A. Botta, et al. · Neuromuscular Disorders
Works count: 25
Citation count: 618
H-index: 8
I10-index: 8
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