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COVID-19 vaccine-induced ptosis and ophthalmoparesis: A new rare neurological manifestation

Brain disorders, 2024-03, Vol.13, p.100118, Article 100118

2024

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Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

The FASEB journal, 2007-04, Vol.21 (4), p.1210-1226

2007

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Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias

Frontiers in neurology, 2020-05, Vol.11, p.300-300

2020

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High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study

Frontiers in neurology, 2020-06, Vol.11, p.394-394

2020

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COVID-19 atypical Parsonage-Turner syndrome: a case report

BMC neurology, 2022-03, Vol.22 (1), p.96-96, Article 96

2022

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A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

Scientific reports, 2017-07, Vol.7 (1), p.4583-13, Article 4583

2017

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Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

Neurogenetics, 2020-10, Vol.21 (4), p.279-287

2020

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Intensive Care Unit-Acquired Weakness after Liver Transplantation: Analysis of Seven Cases and a Literature Review

Journal of clinical medicine, 2023-12, Vol.12 (24), p.7529

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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Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes

Neural regeneration research, 2020-09, Vol.15 (9), p.1757-1766

2020

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Nerve Conduction Studies of Dorsal Sural Nerve: Normative Data and Its Potential Application in ATTRv Pre-Symptomatic Subjects

Brain sciences, 2022-08, Vol.12 (8), p.1037

2022

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Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4

Frontiers in neurology, 2020-04, Vol.11, p.255-255

2020

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Oxaliplatin, neurotoxicity, and the search for the lost channel

Journal of the peripheral nervous system, 2019-12, Vol.24 (4), p.359-359

2019

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Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

Journal of the neurological sciences, 2012-07, Vol.318 (1), p.65-71

2012

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Cholinergic hyperactivity in patients with myasthenia gravis with MuSK antibodies: A neurophysiological study

Clinical neurophysiology, 2021-08, Vol.132 (8), p.1845-1849

2021

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Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients

Movement disorders, 2007-02, Vol.22 (3), p.324-327

2007

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Clinical Reasoning: A 71-Year-Old Man Presenting With Acute Onset Dysarthria and Dysphagia

Neurology, 2021-01, Vol.96 (4), p.180

2021

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Neurophysiological challenges in myasthenia gravis associated with MuSK antibodies: a case report

Neurological sciences, 2022-07, Vol.43 (7), p.4591-4593

2022

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Risk of arrhythmias in myotonic dystrophy: trial design of the RAMYD study

Journal of cardiovascular medicine (Hagerstown, Md.), 2009-01, Vol.10 (1), p.51

2009

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Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene

Neuromuscular disorders : NMD, 2024-04, Vol.37, p.1-5

2024

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Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1)

Journal of neurology, 2022-09, Vol.269 (9), p.5085-5092

2022

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Response to “Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype”

Neuromuscular disorders : NMD, 2020-03, Vol.30 (3), p.265-266

2020

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Clinical, neurophysiological and serological clues for the diagnosis of neuromyotonia and distinction from cramp-fasciculation syndrome

Neuromuscular disorders : NMD, 2023-08, Vol.33 (8), p.636-642

2023

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Ventral Longitudinal Intraspinal Fluid Collection Presenting as Upper Limb Amyotrophy

European neurology, 2018-01, Vol.80 (3-4), p.126-127

2018

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Low rate repetitive nerve stimulation in Lambert-Eaton myasthenic syndrome: Peculiar characteristics of decremental pattern from a single-centre experience

Clinical neurophysiology, 2013-04, Vol.124 (4), p.825-826

2013

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COVID-19 vaccine-induced ptosis and ophthalmoparesis: A new rare neurological manifestation

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias

High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study

COVID-19 atypical Parsonage-Turner syndrome: a case report

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

Intensive Care Unit-Acquired Weakness after Liver Transplantation: Analysis of Seven Cases and a Literature Review

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

Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes

Nerve Conduction Studies of Dorsal Sural Nerve: Normative Data and Its Potential Application in ATTRv Pre-Symptomatic Subjects

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4

Oxaliplatin, neurotoxicity, and the search for the lost channel

Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

Cholinergic hyperactivity in patients with myasthenia gravis with MuSK antibodies: A neurophysiological study

Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients

Clinical Reasoning: A 71-Year-Old Man Presenting With Acute Onset Dysarthria and Dysphagia

Neurophysiological challenges in myasthenia gravis associated with MuSK antibodies: a case report

Risk of arrhythmias in myotonic dystrophy: trial design of the RAMYD study

Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene

Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1)

Response to “Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype”

Clinical, neurophysiological and serological clues for the diagnosis of neuromyotonia and distinction from cramp-fasciculation syndrome

Ventral Longitudinal Intraspinal Fluid Collection Presenting as Upper Limb Amyotrophy

Low rate repetitive nerve stimulation in Lambert-Eaton myasthenic syndrome: Peculiar characteristics of decremental pattern from a single-centre experience

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