Výsledky vyhledávání - "Giuseppina, Franzese"

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent

Autor: Filomena, Napolitano, Milena, Dell'Aquila, Chiara, Terracciano, Giuseppina, Franzese, Maria Teresa, Gentile, Giulio, Piluso, Claudia, Santoro, Davide, Colavito, Anna, Patanè, Paolo, De Blasiis, Simone, Sampaolo, Simona, Paladino, Mariarosa Anna Beatrice, Melone

Publikováno v: Genes. 13(7)

Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d73350d3eda9390775a007cf38ecb46c
https://pubmed.ncbi.nlm.nih.gov/35885913

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

Autor: Filomena Napolitano, Milena Dell’Aquila, Chiara Terracciano, Giuseppina Franzese, Maria Teresa Gentile, Giulio Piluso, Claudia Santoro, Davide Colavito, Anna Patanè, Paolo De Blasiis, Simone Sampaolo, Simona Paladino, Mariarosa Anna Beatrice Melone

Publikováno v: Genes; Volume 13; Issue 7; Pages: 1130

Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in the NF1. To date, few genotype-phenotype correlations have been discerned in NF1, due to a highly variable clinical presentation. W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f26cba46d5ed1a55ebacbcbab13d3065
http://hdl.handle.net/11588/897605

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Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

Autor: Federica Scotto di Carlo, Paolo De Blasiis, Simone Sampaolo, Giorgia Bruno, Teresa Esposito, Mariarosa A. B. Melone, Nicole Piera Palomba, Alessandro Gialluisi, Filomena Napolitano, Stefano Navarro, Chiara Terracciano, Elisabetta Signoriello, Giuseppina Franzese

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 3625, p 3625 (2021)
International Journal of Molecular Sciences; Volume 22; Issue 7; Pages: 3625
International journal of molecular sciences
22 (2021). doi:10.3390/ijms22073625
info:cnr-pdr/source/autori:Napolitano F.; Bruno G.; Terracciano C.; Franzese G.; Palomba N.P.; Scotto Di Carlo F.; Signoriello E.; De Blasiis P.; Navarro S.; Gialluisi A.; Melone M.A.B.; Sampaolo S.; Esposito T./titolo:Rare variants in autophagy and non-autophagy genes in late-onset pompe disease: Suggestions of their disease-modifying role in two Italian families/doi:10.3390%2Fijms22073625/rivista:International journal of molecular sciences (Print)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:22

Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7727ddad3813eaf752887455777e731
http://hdl.handle.net/11383/2125110

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Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy

Autor: Giuseppina Franzese, Giovanni Panella, Luca Lombardi, Simone Sampaolo, Silvia Boffo, Olimpia Farina, Giancarlo la Marca, Francesco Tuccillo, Angelo Pascarella, Chiara Terracciano, Teresa Esposito, Sergio Bernardini, Filomena Napolitano, Giuseppe Di Iorio, Antonio Giordano, Mariarosa A. B. Melone

Publikováno v: Journal of cellular physiology (Online) 233 (2018): 5829–5837. doi:10.1002/jcp.26365
info:cnr-pdr/source/autori:Pascarella A.; Terracciano C.; Farina O.; Lombardi L.; Esposito T.; Napolitano F.; Franzese G.; Panella G.; Tuccillo F.; la Marca G.; Bernardini S.; Boffo S.; Giordano A.; Di Iorio G.; Melone M.A.B.; Sampaolo S./titolo:Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy/doi:10.1002%2Fjcp.26365/rivista:Journal of cellular physiology (Online)/anno:2018/pagina_da:5829/pagina_a:5837/intervallo_pagine:5829–5837/volume:233

Autosomal recessive Pompe disease is a lysosomal disorder caused by mutations of the acid-?-glucosidase (GAA) gene. Deficiency of GAA enzyme leads to glycogen accumulation and autophagy impairment in cardiac and skeletal muscles, but also in lymphocy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1889113a33e75c526ac8a2baf639f1a0
https://doi.org/10.1002/jcp.26365

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Neurofibromatosis type 1: Molecular spectrum of the NF1 mutations in a large cohort of adult Italian patients

Autor: Milena Dell'Aquila, Simone Sampaolo, Giuseppina Franzese, Chiara Terracciano, Mariarosa A. B. Melone, Filomena Napolitano

Publikováno v: Journal of the Neurological Sciences. 429:118277

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3e52476b127f37320a165b7ffc99af6c
https://doi.org/10.1016/j.jns.2021.118277

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PERIPHERAL NEUROPATHY IN HEPATITIS C VIRUS INFECTED PATIENTS WITH AND WITHOUT MIXED CRYOGLOBULINEMIA

Autor: Simone Sampaolo, L. Ambrosone, Giuseppina Franzese, L. De Martino, G. Di Iorio, G. Panella, Sergio Migliaresi

Publikováno v: Journal of the Peripheral Nervous System. 5:49-49

Objective: To evaluate immunohistochemical and ultrastructural changes in sural nerve biopsies from patients with peripheral neuropathy and hepatitis C virus (HCV) infection. Methods: Frozen and plastic-embedded nerve specimens were obtained from 19

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78e063401b3142702e7a19d2963cda0e
https://doi.org/10.1046/j.1529-8027.2000.00513-53.x

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