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Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes

European journal of nuclear medicine and molecular imaging, 2022-06, Vol.49 (7), p.2242-2250

2022

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Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort

Neurology, 2021-01, Vol.96 (4), p.e600

2021

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Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study

The Lancet. Digital health, 2022-05, Vol.4 (5), p.e359-e369

2022

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Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of β-thalassemia

Haematologica (Roma), 2008-04, Vol.93 (4), p.610-614

2008

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Renal Involvement in Transthyretin Amyloidosis: The Double Presentation of Transthyretin Amyloidosis Deposition Disease

Nephron (2015), 2022-09, Vol.146 (5), p.481-488

2022

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High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants

Annals of neurology, 2024-07, Vol.96 (1), p.150-158

2024

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Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of the TARDBP Pathogenic Variant

Neurology, 2024-02, Vol.102 (4), p.e208082

2024

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Differential Neuropsychological Profile of Patients With Amyotrophic Lateral Sclerosis With and Without C9orf72 Mutation

Neurology, 2021-01, Vol.96 (1), p.e141

2021

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GBA variants influence cognitive status in amyotrophic lateral sclerosis

Journal of neurology, neurosurgery and psychiatry, 2022-04, Vol.93 (4), p.453

2022

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A different cognitive and behavioral profile in ALS patients with or without C9orf72 expansion

Journal of the neurological sciences, 2021-10, Vol.429, p.117745, Article 117745

2021

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Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

Neurobiology of aging, 2009-08, Vol.30 (8), p.1272-1275

2009

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A novel splice site FUS mutation in a familial ALS case: effects on protein expression

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2022-01, Vol.23 (1-2), p.128-136

2022

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Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Nature genetics, 2022-03, Vol.54 (3), p.361-361

2022

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Genetic Diversity of Pneumocystis carinii Isolated from Human Immunodeficiency Virus-Positive Patients in Turin, Italy

Journal of Clinical Microbiology, 2001-08, Vol.39 (8), p.2995-2998

2001

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Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis

Neurology. Genetics, 2022-10, Vol.8 (5), p.e200011-e200011

2022

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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

Clinical chemistry and laboratory medicine, 2014-04, Vol.52 (4), p.505

2014

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A de novo missense mutation of the FUS gene in a “true” sporadic ALS case

Neurobiology of aging, 2011-03, Vol.32 (3), p.553.e23-553.e26

2011

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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

Clinical chemistry and laboratory medicine, 2014-07, Vol.52 (7), p.e129

2014

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Integrated Strategy for Fast and Automated Molecular Characterization of Genes Involved in Craniosynostosis

Clinical chemistry (Baltimore, Md.), 2007-10, Vol.53 (10), p.1767-1774

2007

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A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia

Movement disorders, 2008-07, Vol.23 (10), p.1468-1471

2008

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Different Approaches for Noninvasive Prenatal Diagnosis of Genetic Diseases Based on PNA-Mediated Enriched PCR

Annals of the New York Academy of Sciences, 2006-09, Vol.1075 (1), p.137-143

2006

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Severe and long‐lasting disruption of T‐cell receptor diversity in human myeloma after high‐dose chemotherapy and autologous peripheral blood progenitor cell infusion

British journal of haematology, 2001-06, Vol.113 (4), p.1051-1059

2001

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Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of {beta}-thalassemia

Haematologica (Roma), 2008-04, Vol.93 (4), p.610-614

2008

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The influence of hemochromatosis mutations on iron overload of thalassemia major

Haematologica (Roma), 1999-09, Vol.84 (9), p.799

1999

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TFR2 Y250X mutation in Italy

British journal of haematology, 2001-07, Vol.114 (1), p.243-244

2001

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Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort

Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study

Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of β-thalassemia

Renal Involvement in Transthyretin Amyloidosis: The Double Presentation of Transthyretin Amyloidosis Deposition Disease

High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants

Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of the TARDBP Pathogenic Variant

Differential Neuropsychological Profile of Patients With Amyotrophic Lateral Sclerosis With and Without C9orf72 Mutation

GBA variants influence cognitive status in amyotrophic lateral sclerosis

A different cognitive and behavioral profile in ALS patients with or without C9orf72 expansion

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

A novel splice site FUS mutation in a familial ALS case: effects on protein expression

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Genetic Diversity of Pneumocystis carinii Isolated from Human Immunodeficiency Virus-Positive Patients in Turin, Italy

Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis

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

A de novo missense mutation of the FUS gene in a “true” sporadic ALS case

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

Integrated Strategy for Fast and Automated Molecular Characterization of Genes Involved in Craniosynostosis

A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia

Different Approaches for Noninvasive Prenatal Diagnosis of Genetic Diseases Based on PNA-Mediated Enriched PCR

Severe and long‐lasting disruption of T‐cell receptor diversity in human myeloma after high‐dose chemotherapy and autologous peripheral blood progenitor cell infusion

Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of {beta}-thalassemia

The influence of hemochromatosis mutations on iron overload of thalassemia major

TFR2 Y250X mutation in Italy

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