Search Results - "Spadafora, Patrizia"

A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.

Authors: Spadafora, Patrizia Qualtieri, Antonio Cavalcanti, Francesca et al.

Source: International Journal of Molecular Sciences. Aug2022, Vol. 23 Issue 16, p8932-N.PAG. 14p.

MALDI-ISD mass spectrometry analysis as a simple and reliable tool to detect post-translational modifications of hemoglobin variants: the case of Hb Raleigh.

Authors: De Benedittis, Selene Spadafora, Patrizia Gaspari, Marco et al.

Source: Clinical Chemistry & Laboratory Medicine. Nov2023, Vol. 61 Issue 12, pe251-e254. 4p.

Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation.

Authors: Gasparini, Sara Qualtieri, Antonio Ferlazzo, Edoardo et al.

Source: Neurological Sciences. Mar2016, Vol. 37 Issue 3, p459-463. 5p. 2 Color Photographs, 3 Diagrams.

Subjects: Collagen, Genetic mutation, Immunofluorescence, Intracerebral hematoma, Skin biopsy, Functional assessment, Families, Fluorescent antibody technique, Basal lamina, Microscopy, Sebaceous glands, Metabolism, Innervation

Identification of a patient affected by "Juvenile-chronic" Tay Sachs disease in South Italy.

Authors: Liguori, M. Tagarelli, G. Romeo, N. et al.

Source: Neurological Sciences. Nov2016, Vol. 37 Issue 11, p1883-1885. 3p. 1 Diagram.

Subjects: Tay-Sachs disease, Neurological disorders, Neuropathy, Neurosurgery, Ultrasonic imaging, Consanguinity

Geographic Terms: Italy

Genetic variability in ADAM17/TACE is associated with sporadic Alzheimer's disease risk, neuropsychiatric symptoms and cognitive performance on the Rey Auditory Verbal Learning and Clock Drawing Tests.

Authors: Bruno, Francesco Aceto, Mirella A. Paparazzo, Ersilia et al.

Source: PLoS ONE. 5/6/2025, Vol. 20 Issue 5, p1-15. 15p.

A new CYS1678TYR mutation responsible of LGMD2B identified in a family from Southern Italy.

Authors: Spadafora, Patrizia Qualtieri, Antonio Cavalcanti, Francesca et al.

Source: Journal of the Neurological Sciences. 2021 Supplement, Vol. 429, pN.PAG-N.PAG. 1p.

Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype.

Authors: Qualtieri, Antonio De Benedittis, Selene Cerantonio, Annamaria et al.

Source: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10356. 15p.

The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions.

Authors: Cerantonio, Annamaria Citrigno, Luigi Greco, Beatrice Maria et al.

Source: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p6062. 21p.

CAV3 T78M mutation as polymorphic variant in South Italy

Authors: Spadafora, Patrizia Liguori, Maria Andreoli, Virginia et al.

Source: Neuromuscular Disorders. Jul2012, Vol. 22 Issue 7, p669-670. 2p.

A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit.

Authors: Annesi, Grazia Sofia, Vito Gambardella, Antonio et al.

Source: Epilepsia (Series 4). Mar2004, Vol. 45 Issue 3, p294-295. 2p.

Subjects: Myoclonus, Exons (Genetics), Cognition disorders, Learning disabilities, Neurology, Ubiquitin

Epigenetic Clocks and Their Prospective Application in the Complex Landscape of Aging and Alzheimer's Disease.

Authors: Cerantonio, Annamaria Greco, Beatrice Maria Citrigno, Luigi et al.

Source: Genes. Jun2025, Vol. 16 Issue 6, p679. 25p.

LC-MALDI-TOF ISD MS analysis is an effective, simple and rapid method of investigation for histones characterization: Application to EBV lymphoblastoid cell lines.

Authors: De Benedittis, Selene Gaspari, Marco Magariello, Angela et al.

Source: Journal of Mass Spectrometry. May2021, Vol. 56 Issue 5, p1-11. 11p.

Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.

Authors: Ferraroli, Elisabetta Perulli, Marco Veredice, Chiara et al.

Source: Pediatric Neurology. Jul2022, Vol. 132, p45-49. 5p.

Proteomic Profiling in Multiple Sclerosis Clinical Courses Reveals Potential Biomarkers of Neurodegeneration.

Authors: Liguori, Maria Qualtieri, Antonio Tortorella, Carla et al.

Source: PLoS ONE. Aug2014, Vol. 9 Issue 8, p1-8. 8p.

The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives.

Authors: Citrigno, Luigi Muglia, Maria Qualtieri, Antonio et al.

Source: International Journal of Molecular Sciences. Aug2020, Vol. 21 Issue 16, p5785-5785. 1p.

Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies.

Authors: Citrigno, Luigi Qualtieri, Antonio Cerantonio, Annamaria et al.

Source: Journal of the Neurological Sciences. Feb2024, Vol. 457, pN.PAG-N.PAG. 1p.

FRAXE intermediate alleles are associated with Parkinson’s disease

Authors: Annesi, Grazia Nicoletti, Giuseppe Tarantino, Patrizia et al.

Source: Neuroscience Letters. Sep2004, Vol. 368 Issue 1, p21-24. 4p.

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.

Authors: Liguori, Maria La Russa, Antonella Manna, Ida et al.

Source: Journal of Neurology. Jan2008, Vol. 255 Issue 1, p127-129. 3p. 1 Diagram.

Genomic analysis identify a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease.

Authors: Cerantonio, Annamaria De Benedittis, Selene Muglia, Maria et al.

Source: Journal of the Neurological Sciences. 2021 Supplement, Vol. 429, pN.PAG-N.PAG. 1p.

Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.

Authors: Valentino, Paola Annesi, Grazia Cirò Candiano, Innocenza C. et al.

Source: Movement Disorders. Feb2006, Vol. 21 Issue 2, p252-254. 3p.