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Interleukin‐6 neutralization ameliorates symptoms in prematurely aged mice

Aging cell, 2021-01, Vol.20 (1), p.e13285-n/a

2021

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Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients

Human genomics, 2020-09, Vol.14 (1), p.29-6, Article 29

2020

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Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations

The journal of clinical endocrinology and metabolism, 2009-12, Vol.94 (12), p.4971-4983

2009

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In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5' and 3' Ends of the CTG Array

International journal of molecular sciences, 2023-06, Vol.24 (12), p.10129

2023

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Protein farnesylation and disease

Journal of inherited metabolic disease, 2012-09, Vol.35 (5), p.917-926

2012

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Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing

eLife, 2022-08, Vol.11

2022

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Workload measurement for molecular genetics laboratory: A survey study

PloS one, 2018-11, Vol.13 (11), p.e0206855-e0206855

2018

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Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene

DNA and cell biology, 2018-12, Vol.37 (12), p.1061-1067

2018

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Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients

Heliyon, 2020-10, Vol.6 (10), p.e05143-e05143, Article e05143

2020

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Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture

Frontiers in genetics, 2021-09, Vol.12, p.743230-743230

2021

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European lipodystrophy registry: background and structure

Orphanet journal of rare diseases, 2020-01, Vol.15 (1), p.17-17, Article 17

2020

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Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype

Bone Reports, 2023-12, Vol.19, p.101728, Article 101728

2023

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A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

Frontiers in genetics, 2021-06, Vol.12, p.668094-668094

2021

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Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene

Acta dermato-venereologica, 2019-11, Vol.99 (12), p.1192-1194

2019

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Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

Acta neuropathologica communications, 2015-07, Vol.3 (1), p.44-44, Article 44

2015

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From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging

Mechanisms of ageing and development, 2023-04, Vol.211, p.111790-111790, Article 111790

2023

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Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy

Biochimica et biophysica acta, 2013-03, Vol.1832 (3), p.411-420

2013

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Genetics and Genomics of Breast Cancer: update and translational perspectives

Seminars in cancer biology, 2021-07, Vol.72, p.27-35

2021

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The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence

Open biology, 2016-08, Vol.6 (8), p.160103

2016

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Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution

Cell cycle (Georgetown, Tex.), 2012-10, Vol.11 (19), p.3568-3577

2012

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Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing

Ageing research reviews, 2018-03, Vol.42, p.1-13

2018

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The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation

Cell cycle (Georgetown, Tex.), 2008-07, Vol.7 (13), p.2030-2037

2008

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Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype

The journal of clinical endocrinology and metabolism, 2007-11, Vol.92 (11), p.4467-4471

2007

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Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

Cells (Basel, Switzerland), 2020-06, Vol.9 (6), p.1532

2020

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Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations

The journal of maternal-fetal & neonatal medicine, 2024-12, Vol.37 (1), p.2344718-2344718

2024

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Interleukin‐6 neutralization ameliorates symptoms in prematurely aged mice

Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients

Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations

In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5' and 3' Ends of the CTG Array

Protein farnesylation and disease

Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing

Workload measurement for molecular genetics laboratory: A survey study

Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene

Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients

Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture

European lipodystrophy registry: background and structure

Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging

Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy

Genetics and Genomics of Breast Cancer: update and translational perspectives

The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence

Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution

Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing

The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation

Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations

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