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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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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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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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Systematic evaluation of genetic mutations in ALS: a population-based study

Journal of neurology, neurosurgery and psychiatry, 2022-07, Vol.93 (11), p.1190-1193

2022

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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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Brain Metabolic Changes in Amyotrophic Lateral Sclerosis with SOD1 Mutations (P1-1.Virtual)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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Brain 18 fluorodeoxyglucose-positron emission tomography changes in amyotrophic lateral sclerosis with TARDBP mutations

Journal of neurology, neurosurgery and psychiatry, 2022-09, Vol.93 (9), p.1021-1023

2022

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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.453-455

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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Brain 18fluorodeoxyglucose-positron emission tomography changes in amyotrophic lateral sclerosis with TARDBP mutations

Journal of neurology, neurosurgery and psychiatry, 2022-09, Vol.93 (9), p.1021-1023

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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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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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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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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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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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 ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients

Hepatology (Baltimore, Md.), 1996-07, Vol.24 (1), p.43-46

1996

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Mechanism of origin in two cases of chimerism

Open journal of pediatrics, 2011, Vol.1 (4), p.79-86

2011

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

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

2022

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New polymorphisms and markers in the HLA class I region : relevance to hereditary hemochromatosis (HFE)

Human genetics, 1995-04, Vol.95 (4), p.429-434

1995

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A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology

Genetic testing, 2000, Vol.4 (2), p.177-181

2000

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Genetic Programming for the Reconstruction of Delay Differential Equations in Economics

Proceedings of the Genetic and Evolutionary Computation Conference Companion, 2024, p.2119-2122

2024

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Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes

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

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

Systematic evaluation of genetic mutations in ALS: a population-based study

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

Brain Metabolic Changes in Amyotrophic Lateral Sclerosis with SOD1 Mutations (P1-1.Virtual)

Brain 18 fluorodeoxyglucose-positron emission tomography changes in amyotrophic lateral sclerosis with TARDBP mutations

GBA variants influence cognitive status in amyotrophic lateral sclerosis

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

Brain 18fluorodeoxyglucose-positron emission tomography changes in amyotrophic lateral sclerosis with TARDBP mutations

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

Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis

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

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

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

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 ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients

Mechanism of origin in two cases of chimerism

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

New polymorphisms and markers in the HLA class I region : relevance to hereditary hemochromatosis (HFE)

A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology

Genetic Programming for the Reconstruction of Delay Differential Equations in Economics

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