Search Results - "Procopio, Radha"

Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies.

Authors: Talarico, Mariagrazia Procopio, Radha Gagliardi, Monica et al.

Source: International Journal of Molecular Sciences. Jan2025, Vol. 26 Issue 1, p295. 12p.

Assessment of Mitochondrial DNA Copy Number in Progressive Supranuclear Palsy Patients: Evidence From a Pilot Study.

Authors: Citrigno, Luigi Cerantonio, Annamaria Gagliardi, Monica et al.

Source: European Journal of Neurology. Apr2026, Vol. 33 Issue 4, p1-7. 7p.

Subjects: Progressive supranuclear palsy, Mitochondrial DNA, Mitochondrial pathology, Disease progression, Biomarkers, Blood testing, Neurodegeneration, Diagnostic use of polymerase chain reaction

Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia.

Authors: Procopio, Radha Fortunato, Francesco Gagliardi, Monica et al.

Source: International Journal of Molecular Sciences. May2024, Vol. 25 Issue 10, p5505. 9p.

Hereditary Transthyretin Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred.

Authors: Dinatolo, Francesca Procopio, Radha Rocca, Valentina et al.

Source: Genes. Aug2025, Vol. 16 Issue 8, p960. 11p.

Reduced Mitochondrial DNA Copy Number and Telomere Length in Essential Tremor Patients: Evidence from an Age- and Sex-Adjusted Cross-Sectional Case–Control Study.

Authors: Gagliardi, Monica Felicetti, Alessia Procopio, Radha et al.

Source: International Journal of Molecular Sciences. Jun2026, Vol. 27 Issue 12, p5275. 14p.

Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis.

Authors: Bono, Francesco Rapisarda, Laura Bombardieri, Caterina et al.

Source: Neurological Sciences. Apr2023, Vol. 44 Issue 4, p1393-1399. 7p. 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 1 Chart.

Subjects: Disease vectors, Sleep interruptions, Sleep apnea syndromes, Genetic testing, Exostosis, Intracranial hypertension, Vein diseases

Geographic Terms: Italy

Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures.

Authors: Procopio, Radha Gagliardi, Monica Talarico, Mariagrazia et al.

Source: Genes. Nov2024, Vol. 15 Issue 11, p1407. 11p.

Analysis of the LRP10 gene in patients with Parkinson's disease and dementia with Lewy bodies from Southern Italy.

Authors: Gagliardi, Monica Procopio, Radha Nicoletti, Giuseppe et al.

Source: Neurological Sciences. 2021, Vol. 42 Issue 1, p305-308. 4p. 1 Diagram, 1 Chart.

Subjects: Parkinson's disease, Lewy body dementia, Dementia, Sequence analysis, Genetic mutation

Geographic Terms: Italy

Glucose transporter‐1 deficiency syndrome with extreme phenotypic variability in a five‐generation family carrying a novel SLC2A1 variant.

Authors: Giugno, Alessia Falcone, Elena Fortunato, Francesco et al.

Source: European Journal of Neurology. Aug2024, Vol. 31 Issue 8, p1-6. 6p.

Subjects: Phenotypic plasticity, Hippocampal sclerosis, Disabilities, Genetic variation, Neurological disorders

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Expanding the Mutational Spectrum of ACADVL : Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Authors: Dinatolo, Francesca D'Antona, Lucia Procopio, Radha et al.

Source: Genes. Jun2026, Vol. 17 Issue 6, p649. 11p.

Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy.

Authors: Procopio, Radha Gagliardi, Monica Nicoletti, Giuseppe et al.

Source: Journal of the Neurological Sciences. Sep2019, Vol. 404, p16-18. 3p.

ANXA1 mutation analysis in Italian patients with early onset PD.

Authors: Gagliardi, Monica Procopio, Radha Talarico, Mariagrazia et al.

Source: Neurobiology of Aging. May2023, Vol. 125, p123-124. 2p.

Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy.

Authors: Gagliardi, Monica Procopio, Radha Nicoletti, Giuseppe et al.

Source: Journal of the Neurological Sciences. Nov2021, Vol. 430, pN.PAG-N.PAG. 1p.

Genetic architecture of hereditary spastic paraplegia: from monogenic to oligogenic models.

Authors: Pedullà, Giuseppe Morelli, Maurizio Gagliardi, Monica et al.

Source: Journal of Neurogenetics. Mar-Jun2026, Vol. 40 Issue 1/2, p53-59. 7p.

Analysis of the TMEM230 gene in patients with multiple system atrophy.

Authors: Procopio, Radha Gagliardi, Monica Brighina, Laura et al.

Source: Journal of the Neurological Sciences. Sep2018, Vol. 392, p128-129. 2p.

DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB.

Authors: Procopio, Radha Gagliardi, Monica D'Amelio, Marco et al.

Source: Neurobiology of Aging. Sep2020, Vol. 93, p143.e5-143.e7. 1p.

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Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients.

Authors: Bonapace, Giuseppe Gagliardi, Monica Procopio, Radha et al.

Source: Neurobiology of Aging. Apr2022, Vol. 112, p12-15. 4p.

DNAJC13 mutation screening in patients with Parkinson's disease from South Italy.

Authors: Gagliardi, Monica Annesi, Grazia Procopio, Radha et al.

Source: Parkinsonism & Related Disorders. Oct2018, Vol. 55, p134-137. 4p.