Publications by authors named "Luca Sbaiz"

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Changes in attitudes towards prenatal diagnosis for haemoglobinopathies: a 40-year retrospective observational study in Northern Italy.
Vincenzo Voi, Noemi Giordano, Veronica Sciannameo, Andrea Sciarrone, Luca Sbaiz

BMJ Open· December 2025

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Brain Metabolic Features of FUS-ALS: A 2-[F]FDG-PET Study.
Antonio Canosa, Umberto Manera, Rosario Vasta, Grazia Zocco, Francesca Di Pede, Luca Sbaiz

Ann Neurol· June 2025

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High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants.
Andrea Calvo, Cristina Moglia, Antonio Canosa, Umberto Manera, Rosario Vasta, Luca Sbaiz

Ann Neurol· July 2024

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Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of the Pathogenic Variant.
Cristina Moglia, Andrea Calvo, Antonio Canosa, Umberto Manera, Rosario Vasta, Luca Sbaiz

Neurology· February 2024

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Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis.
Maurizio Grassano, Giorgia Brodini, Giovanni De Marco, Federico Casale, Giuseppe Fuda, Luca Sbaiz

Neurol Genet· October 2022

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Renal Involvement in Transthyretin Amyloidosis: The Double Presentation of Transthyretin Amyloidosis Deposition Disease.
Roberta Fenoglio, Simone Baldovino, Antonella Barreca, Emanuel Bottasso, Savino Sciascia, Luca Sbaiz

Nephron· September 2022

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Brain fluorodeoxyglucose-positron emission tomography changes in amyotrophic lateral sclerosis with mutations.
Antonio Canosa, Andrea Calvo, Cristina Moglia, Rosario Vasta, Francesca Palumbo, Luca Sbaiz

J Neurol Neurosurg Psychiatry· September 2022

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Systematic evaluation of genetic mutations in ALS: a population-based study.
Maurizio Grassano, Andrea Calvo, Cristina Moglia, Luca Sbaiz, Maura Brunetti

J Neurol Neurosurg Psychiatry· July 2022

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Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes.
Antonio Canosa, Andrea Calvo, Cristina Moglia, Rosario Vasta, Francesca Palumbo, Luca Sbaiz

Eur J Nucl Med Mol Imaging· June 2022

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GBA variants influence cognitive status in amyotrophic lateral sclerosis.
Antonio Canosa, Maurizio Grassano, Cristina Moglia, Barbara Iazzolino, Laura Peotta, Luca Sbaiz

J Neurol Neurosurg Psychiatry· April 2022

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A novel splice site mutation in a familial ALS case: effects on protein expression.
Antonio Canosa, Annarosa Lomartire, Giovanni De Marco, Maurizio Grassano, Maura Brunetti, Luca Sbaiz

Amyotroph Lateral Scler Frontotemporal Degener· February 2022

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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Janel O Johnson, Ruth Chia, Danny E Miller, Rachel Li, Ravindran Kumaran, Luca Sbaiz

JAMA Neurol· October 2021

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Differential Neuropsychological Profile of Patients With Amyotrophic Lateral Sclerosis With and Without Mutation.
Barbara Iazzolino, Laura Peotta, Jean Pierre Zucchetti, Antonio Canosa, Umberto Manera, Luca Sbaiz

Neurology· January 2021

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Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.
Maurizio Grassano, Andrea Calvo, Cristina Moglia, Maura Brunetti, Marco Barberis, Luca Sbaiz

Neurology· January 2021

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Further considerations concerning non-invasive prenatal diagnosis of craniosynostosis based on the identification of an 18 bp deletion in the TWIST1 gene by COLD-PCR.
Silvia Galbiati, Stefania Stenirri, Luca Sbaiz, Marco Barberis, Laura Cremonesi

Clin Chem Lab Med· July 2014

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Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report.
Silvia Galbiati, Stefania Stenirri, Luca Sbaiz, Marco Barberis, Laura Cremonesi

Clin Chem Lab Med· April 2014

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A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
Adriano Chiò, Andrea Calvo, Cristina Moglia, Irene Ossola, Maura Brunetti, Luca Sbaiz

Neurobiol Aging· March 2011

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A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia.
Claudia Cagnoli, Alessandro Brussino, Luca Sbaiz, Eleonora Di Gregorio, Cristiana Atzori

Mov Disord· July 2008

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The rare G93D mutation causes a slowly progressing lower motor neuron disease.
Gabriella Restagno, Federica Lombardo, Luca Sbaiz, Cristina Mari, Cinzia Gellera

Amyotroph Lateral Scler· April 2008

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Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia.
Silvia Galbiati, Barbara Foglieni, Maurizio Travi, Cristina Curcio, Gabriella Restagno, Luca Sbaiz

Haematologica· April 2008

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Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.
Stefania Stenirri, Gabriella Restagno, Giovanni Battista Ferrero, Georgia Alaimo, Luca Sbaiz

Clin Chem· October 2007

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Different approaches for noninvasive prenatal diagnosis of genetic diseases based on PNA-mediated enriched PCR.
Silvia Galbiati, Gabriella Restagno, Barbara Foglieni, Sara Bonalumi, Maurizio Travi, Luca Sbaiz

Ann N Y Acad Sci· September 2006

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