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.

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.

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.

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

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.

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.

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.