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Age‐dependent epileptic encephalopathy associated with an unusual co‐occurrence of ZEB2 and SCN1A variants
Epileptic disorders, 2020-02, Vol.22 (1), p.111-115
2020
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Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit
Frontiers in molecular biosciences, 2022-06, Vol.9, p.887336-887336
2022
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Cancer-Related Cachexia: The Vicious Circle between Inflammatory Cytokines, Skeletal Muscle, Lipid Metabolism and the Possible Role of Physical Training
International journal of molecular sciences, 2022-03, Vol.23 (6), p.3004
2022
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Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow‐up study
Headache, 2023-07, Vol.63 (7), p.889-898
2023
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Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?
Epileptic disorders, 2020-12, Vol.22 (6), p.807-810
2020
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KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties
Annals of neurology, 2023-08, Vol.94 (2), p.332-349
2023
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A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
BMC medical genomics, 2021-04, Vol.14 (1), p.98-5, Article 98
2021
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A novel mutation in KCNQ3‐related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome
Epileptic disorders, 2019-02, Vol.21 (1), p.87-91
2019
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Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant
BMC neurology, 2020-04, Vol.20 (1), p.155-155, Article 155
2020
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The largest caucasian kindred with dentatorubral‐pallidoluysian atrophy: A founder mutation in italy
Movement disorders, 2019-12, Vol.34 (12), p.1919-1924
2019
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A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability
Brain & development (Tokyo. 1979), 2018-01, Vol.40 (1), p.58-64
2018
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Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review
Molecular genetics & genomic medicine, 2022-05, Vol.10 (5), p.e1911-n/a
2022
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The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications
Genes, 2023-11, Vol.14 (12), p.2111
2023
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NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron
Genes, 2023-11, Vol.14 (12), p.2143
2023
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De novo GRIN2A variants associated with epilepsy and autism and literature review
Epilepsy & behavior, 2022-04, Vol.129, p.108604-108604, Article 108604
2022
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Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities
European journal of medical genetics, 2022-03, Vol.65 (3), p.104441-104441, Article 104441
2022
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Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review
Seizure (London, England), 2021-02, Vol.85, p.151-154
2021
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A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster
Seizure (London, England), 2022-04, Vol.97, p.20-22
2022
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Migraine in children under 6 years of age: A long-term follow-up study
European journal of paediatric neurology, 2020-07, Vol.27, p.67-71
2020
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ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview
Brain & development (Tokyo. 1979), 2023-11, Vol.45 (10), p.588-596
2023
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A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome
Epileptic disorders, 2019-02, Vol.21 (1), p.87-91
2019
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Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome
European journal of medical genetics, 2021-02, Vol.64 (2), p.104133-104133, Article 104133
2021
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A BRIEF GUIDE TO THE ANATOMICAL DISSECTION OF THE STOMACH
Euromediterranean biomedical journal, 2021-04, Vol.16 (10), p.44-47
2021
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ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview
Brain & development, 2023, Vol.45 (10), p.588-596
2023
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Bidimensional and Contrast-Enhanced Ultrasonography of the Spleen in Dogs Affected by Leishmaniosis
Animals (Basel), 2021-05, Vol.11 (5), p.1437
2021
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