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Real‐life experience with inotersen in hereditary transthyretin amyloidosis with late‐onset phenotype: Data from an early‐access program in Italy

European journal of neurology, 2022-07, Vol.29 (7), p.2148-2155

2022

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Lipid Myopathies

Journal of clinical medicine, 2018-11, Vol.7 (12), p.472

2018

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Muscle involvement in myasthenia gravis: Expanding the clinical spectrum of Myasthenia-Myositis association from a large cohort of patients

Autoimmunity reviews, 2020-04, Vol.19 (4), p.102498, Article 102498

2020

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Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Orphanet journal of rare diseases, 2017-05, Vol.12 (1), p.90-90, Article 90

2017

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Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients

Biomolecules (Basel, Switzerland), 2023-03, Vol.13 (3), p.452

2023

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An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy

Neuroepidemiology, 2016-04, Vol.46 (3), p.191-197

2016

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Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies

Genes, 2023-01, Vol.14 (2), p.298

2023

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ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country

Genes, 2021-05, Vol.12 (6), p.829

2021

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Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Acta neuropathologica communications, 2018-09, Vol.6 (1), p.94-94, Article 94

2018

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Post-COVID simultaneous onset of Graves’ disease and ocular myasthenia gravis in a patient with a complex ocular motility impairment

European journal of ophthalmology, 2023-05, Vol.33 (3), p.NP49-NP51

2023

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Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials

European journal of neurology, 2022-03, Vol.29 (3), p.843-854

2022

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Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores

Neuromuscular disorders : NMD, 2021-02, Vol.31 (2), p.139-148

2021

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A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene

Journal of the peripheral nervous system, 2019-06, Vol.24 (2), p.219-223

2019

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Aminopiridines in the treatment of multiple sclerosis and other neurological disorders

Neurodegenerative disease management, 2020-12, Vol.10 (6), p.409-423

2020

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Muscle MRI in neutral lipid storage disease (NLSD)

Journal of neurology, 2017-07, Vol.264 (7), p.1334-1342

2017

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L’IRM musculaire dans la lipidose avec surcharge en triglycérides (NLSD)

Revue neurologique, 2016-04, Vol.172, p.A51-A51

2016

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Dropped-head in recessive oculopharyngeal muscular dystrophy

Neuromuscular disorders : NMD, 2015-11, Vol.25 (11), p.869-872

2015

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Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of IRYR1/I-Related Myopathies

Genes, 2023-01, Vol.14 (2)

2023

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Erratum to: Muscle MRI in neutral lipid storage disease (NLSD)

Journal of neurology, 2017-07, Vol.264 (7), p.1343-1344

2017

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A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene

Journal of the peripheral nervous system : JPNS, 2019, Vol.24 (2), p.219-223

2019

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New Insights in Thyroid Cancer and p53 Family Proteins

International journal of molecular sciences, 2017-06, Vol.18 (6), p.1325

2017

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Roles of Interferon Regulatory Factors in Chronic Myeloid Leukemia

Current cancer drug targets, 2016-09, Vol.16 (7), p.594

2016

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Non ABL-directed inhibitors as alternative treatment strategies for chronic myeloid leukemia

Molecular cancer, 2018-02, Vol.17 (1), p.56-15, Article 56

2018

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The Insulin/IGF System in Colorectal Cancer Development and Resistance to Therapy

Frontiers in oncology, 2015-10, Vol.5, p.230-230

2015

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Activation of the IGF Axis in Thyroid Cancer: Implications for Tumorigenesis and Treatment

International journal of molecular sciences, 2019-07, Vol.20 (13), p.3258

2019

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Real‐life experience with inotersen in hereditary transthyretin amyloidosis with late‐onset phenotype: Data from an early‐access program in Italy

Lipid Myopathies

Muscle involvement in myasthenia gravis: Expanding the clinical spectrum of Myasthenia-Myositis association from a large cohort of patients

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients

An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies

ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Post-COVID simultaneous onset of Graves’ disease and ocular myasthenia gravis in a patient with a complex ocular motility impairment

Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials

Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores

A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene

Aminopiridines in the treatment of multiple sclerosis and other neurological disorders

Muscle MRI in neutral lipid storage disease (NLSD)

L’IRM musculaire dans la lipidose avec surcharge en triglycérides (NLSD)

Dropped-head in recessive oculopharyngeal muscular dystrophy

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of IRYR1/I-Related Myopathies

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD)

A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene

New Insights in Thyroid Cancer and p53 Family Proteins

Roles of Interferon Regulatory Factors in Chronic Myeloid Leukemia

Non ABL-directed inhibitors as alternative treatment strategies for chronic myeloid leukemia

The Insulin/IGF System in Colorectal Cancer Development and Resistance to Therapy

Activation of the IGF Axis in Thyroid Cancer: Implications for Tumorigenesis and Treatment

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