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Modeling Load Stochastic Jumps for Power Systems Dynamic Analysis

IEEE transactions on power systems, 2019-11, Vol.34 (6), p.5087-5090

2019

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Mitigating Extreme Over-Frequency Events Using Dynamic Response From Wind Farms

IEEE transactions on power systems, 2022-07, Vol.37 (4), p.3199-3208

2022

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Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting

Genes, 2023-02, Vol.14 (2), p.500

2023

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TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

American journal of human genetics, 2010-09, Vol.87 (3), p.365-370

2010

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Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center

Neurological sciences, 2020-02, Vol.41 (2), p.341-346

2020

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Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy

Pediatric neurology, 2016-02, Vol.55, p.58-63

2016

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Isolated compression of the ulnar motor branch due to carpal joint ganglia: clinical series, surgical technique and postoperative outcomes

European journal of orthopaedic surgery & traumatology, 2021-04, Vol.31 (3), p.579-585

2021

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Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review

Brain & development (Tokyo. 1979), 2022-08, Vol.44 (7), p.469-473

2022

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Diagnostic Approach to Macrocephaly in Children

Frontiers in pediatrics, 2022-01, Vol.9, p.794069-794069

2022

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Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study

Frontiers in oncology, 2020-06, Vol.10, p.795-795

2020

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Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

Cancers, 2023-03, Vol.15 (6), p.1916

2023

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Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

Italian journal of pediatrics, 2021-10, Vol.47 (1), p.208-208, Article 208

2021

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Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia

Frontiers in pediatrics, 2023-12, Vol.11, p.1326552-1326552

2023

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Clinical and molecular consequences of exon 78 deletion in DMD gene

Journal of human genetics, 2018-06, Vol.63 (6), p.761-764

2018

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Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center Experience

Brain sciences, 2020-06, Vol.10 (6), p.383

2020

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TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients

Neurological sciences, 2013-07, Vol.34 (7), p.1057-1063

2013

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17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome

Brain & development (Tokyo. 1979), 2016-08, Vol.38 (7), p.663-668

2016

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Potential Role of miRNAs in the Acquisition of Chemoresistance in Neuroblastoma

Journal of personalized medicine, 2021-02, Vol.11 (2), p.107

2021

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A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome

Frontiers in pediatrics, 2022-04, Vol.10, p.847549-847549

2022

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Acute myopathic quadriplegia in patients with COVID-19 in the intensive care unit

Neurology, 2020-09, Vol.95 (11), p.492-494

2020

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Neuropathy with Predominant Small Fiber Involvement Associated with Abnormal Anti-MAG Titer

Internal Medicine, 2010, Vol.49(23), pp.2627-2629

2010

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Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

Prenatal diagnosis, 2024-07, Vol.44 (8), p.1003-1007

2024

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Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome

Brain (London, England : 1878), 2023-01, Vol.146 (1), p.e1-e4

2023

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Modeling Load Stochastic Jumps for Power Systems Dynamic Analysis

Mitigating Extreme Over-Frequency Events Using Dynamic Response From Wind Farms

Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy

Isolated compression of the ulnar motor branch due to carpal joint ganglia: clinical series, surgical technique and postoperative outcomes

Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review

Diagnostic Approach to Macrocephaly in Children

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia

Clinical and molecular consequences of exon 78 deletion in DMD gene

Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center Experience

TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome

Potential Role of miRNAs in the Acquisition of Chemoresistance in Neuroblastoma

A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome

Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations

Acute myopathic quadriplegia in patients with COVID-19 in the intensive care unit

Neuropathy with Predominant Small Fiber Involvement Associated with Abnormal Anti-MAG Titer

Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome

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