Italian

@article{foligno1913the,
    author = "Foligno, Cesare and Smith, Winifred",
    title = "The Commedia dell' Arte; A Study in Italian Popular Comedy",
    year = "1913",
    journal = "The Modern Language Review",
    url = "https://doi.org/10.2307/3712610",
    doi = "10.2307/3712610",
    number = "4",
    openalex = "W4214933716",
    pages = "563",
    volume = "8"
}

@misc{trevisan1949limeamenti9,
    author = "Trevisan, L",
    title = "Limeamenti dell'evoluzione del ceppo di elefanti eurasiatici nel Quaternario",
    year = "1949",
    howpublished = "La Ricerca Scientifica, v. 19, Suppl. 1, p. 105-111",
    note = "talkorigins\_source = {true}; raw\_reference = {Trevisan, L., 1949, Limeamenti dell'evoluzione del ceppo di elefanti eurasiatici nel Quaternario: La Ricerca Scientifica, v. 19, Suppl. 1, p. 105-111.}"
}

@misc{simonetta1970studies8,
    author = "Simonetta, A. M",
    title = "Studies of non-trilobite arthropods of the Burgess Shale (Middle Cambrian)",
    year = "1970",
    howpublished = "Palaeontographica Italica, v. 66 (n.s. 36), p. 35-45",
    note = "talkorigins\_source = {true}; raw\_reference = {Simonetta, A. M., 1970, Studies of non-trilobite arthropods of the Burgess Shale (Middle Cambrian): Palaeontographica Italica, v. 66 (n.s. 36), p. 35-45.}"
}

@misc{mutti1972le6,
    author = "Mutti, E. and Ricci Lucchi, F",
    title = "Le torbiditi dell'Appennino settentrionale",
    year = "1972",
    howpublished = "introduzione all'ananisi di facies: Memoirs Soc. Geol. Italiana, v. 11, p. 161-199",
    note = "talkorigins\_source = {true}; raw\_reference = {Mutti, E., and Ricci Lucchi, F., 1972, Le torbiditi dell'Appennino settentrionale: introduzione all'ananisi di facies: Memoirs Soc. Geol. Italiana, v. 11, p. 161-199.}"
}

@misc{mutti1972un5,
    author = "Mutti, E. and Ghibaudo, G",
    title = "Un esempio di torbiditi di conoide sottomarina estern",
    year = "1972",
    howpublished = "le Arenarie di San Salvatore (Formazione di Bobbio, Miocene) nell'Appennino de Piacenza. Memorie dell'Accademia delle Scienze di Torino, Classe di Scienze Fisiche, Mathematiche e Naturali, Series 4, No.16, 40 p",
    note = "talkorigins\_source = {true}; raw\_reference = {Mutti, E., and Ghibaudo, G., 1972, Un esempio di torbiditi di conoide sottomarina estern: le Arenarie di San Salvatore (Formazione di Bobbio, Miocene) nell'Appennino de Piacenza. Memorie dell'Accademia delle Scienze di Torino, Classe di Scienze Fisiche, Mathematiche e Naturali, Series 4, No.16, 40 p.}"
}

@book{mutti1979turbidites4,
    author = "Mutti, E",
    title = "Turbidites et cones sous-marins profonds, in Sedimemtation detritique (fluviatile, littorale et marine), 1979 of Institut de Geologie de l'University de Fribourg, Short Course",
    year = "1979",
    publisher = "Fribourg, Institut de Geologie de l'University de Fribourg, p. 353-419",
    note = "talkorigins\_source = {true}; raw\_reference = {Mutti, E., 1979, Turbidites et cones sous-marins profonds, in Sedimemtation detritique (fluviatile, littorale et marine), 1979 of Institut de Geologie de l'University de Fribourg, Short Course: Fribourg, Institut de Geologie de l'University de Fribourg, p. 353-419.}"
}

@article{hiscott1981deep1,
    author = "Hiscott, R. N",
    title = "Deep sea fan deposits in the Macigno Formation (Middle- Upper Oilgocene) of the Gordana Valley, Northern Appennines, Italy",
    year = "1981",
    journal = "Discussion: Journal of Sedimentary Petrology, v. 51, p. 1015-1021",
    note = "talkorigins\_source = {true}; raw\_reference = {Hiscott, R. N., 1981, Deep sea fan deposits in the Macigno Formation (Middle- Upper Oilgocene) of the Gordana Valley, Northern Appennines, Italy: Discussion: Journal of Sedimentary Petrology, v. 51, p. 1015-1021.}"
}

@misc{leonardi1984le2,
    author = "Leonardi, G",
    title = "Le impronte fossili di dinosauri, in Sulle orme dei Dinosauri",
    year = "1984",
    howpublished = "Paleont. Ricatore (C.N.P.Q.) del Brasile, p. 165-186",
    note = "talkorigins\_source = {true}; raw\_reference = {Leonardi, G., 1984, Le impronte fossili di dinosauri, in Sulle orme dei Dinosauri: Paleont. Ricatore (C.N.P.Q.) del Brasile, p. 165-186.}"
}

@article{slatt1985submarine,
    author = "Slatt, Roger M. and Thompson, Peter R.",
    title = "Submarine slope mudstone facies, cozy dell formation (Middle Eocene), California",
    year = "1985",
    journal = "Geo-Marine Letters",
    url = "https://doi.org/10.1007/bf02629796",
    doi = "10.1007/bf02629796",
    number = "1",
    openalex = "W2062097106",
    pages = "39-45",
    volume = "5",
    references = "doi1010160037073880900524, doi10113000167606198394459ftaspi20co2, doi1011639789004611764, doi10130603b5b6aa16d111d78645000102c1865d, doi101306ad4619e916f711d78645000102c1865d, doi101306ce15408, doi102110pec79270001, doi102110pec79270327, openalexw1782018199, openalexw405408748"
}

@book{maffei1990the3,
    author = "Maffei, P",
    title = "The Universe in Time",
    year = "1990",
    publisher = "Cambridge, Mass., MIT Press, 407 p.; Translated from the Italian edition (Milan, 1982) by M. Giaconni",
    note = "talkorigins\_source = {true}; raw\_reference = {Maffei, P., 1990, The Universe in Time: Cambridge, Mass., MIT Press, 407 p.; Translated from the Italian edition (Milan, 1982) by M. Giaconni.}"
}

An almost complete sequence of middle and upper marine strata, informally designated in this study as the "Strata of Cascade Head", has yielded 334 species and varieties of fossil Foraminifera. The Foraminifera were collected from 38 localities in four stratigraphic sections measured along the Salmon River, Neskowin Creek, Cascade Head Road, and near the town of Three Rocks in the central Oregon Coast Range.

@misc{doi1015760etd2491,
    author = "Callender, Arden D.",
    title = "Middle and upper Eocene biostratigraphy (Foraminifera) of the Cascade Head area, Lincoln and Tillamook Counties, Oregon",
    year = "2000",
    abstract = {An almost complete sequence of middle and upper marine strata, informally designated in this study as the "Strata of Cascade Head", has yielded 334 species and varieties of fossil Foraminifera. The Foraminifera were collected from 38 localities in four stratigraphic sections measured along the Salmon River, Neskowin Creek, Cascade Head Road, and near the town of Three Rocks in the central Oregon Coast Range.},
    url = "https://doi.org/10.15760/etd.2491",
    doi = "10.15760/etd.2491",
    openalex = "W1664108437",
    references = "openalexw405408748"
}

List of figures Acknowledgements 1. Introduction 2. Improvisation and characters 3. Residual orality in early modern Italy and the commedia dell'arte 4. Venetian buffoni 5. Early male actors 6. Early actresses 7. Zanni texts, 1576-88 8. Conclusions and caprices: early texts of the Dottore and Pantalone 9. Tristano Martinelli: a company buffone 10. Theatrical and literary 'composition' in Francesco Andreini and Flaminio Scala 11. The generation of Cecchini: technical, moral and dramaturgical publications Notes Bibliography.

@book{openalexw1583574439,
    author = "Henke, Robert",
    title = "Performance and Literature in the Commedia dell'Arte",
    year = "2003",
    abstract = "List of figures Acknowledgements 1. Introduction 2. Improvisation and characters 3. Residual orality in early modern Italy and the commedia dell'arte 4. Venetian buffoni 5. Early male actors 6. Early actresses 7. Zanni texts, 1576-88 8. Conclusions and caprices: early texts of the Dottore and Pantalone 9. Tristano Martinelli: a company buffone 10. Theatrical and literary 'composition' in Francesco Andreini and Flaminio Scala 11. The generation of Cecchini: technical, moral and dramaturgical publications Notes Bibliography.",
    openalex = "W1583574439"
}

Abstract Detailed facies characterization of the Middle Devonian Geneseo Formation in the Northern Appalachian Basin (NAB) shows a rich assembly of sedimentary features and textures that suggest shelfal mud deposition in a storm-dominated, shallow epeiric sea. At the time of deposition, Acadian uplift supplied fine-grained detritus from the east and stimulated delta growth. As sediment was shed from the hinterland, distribution of mudstone facies was controlled by a combination of autogenic processes and a general rise in sea level. The vertical and lateral distribution of nine mudstone facies observed in this succession indicates an overall shallowing-upwards trend (westward progradation of Catskill delta) with multiple modes of sediment transport and deposition. The water column became more oxygenated upsection as indicated by an increase in benthic fauna diversity (e.g., Leiorhynchus and Orbiculoidea), increasing bioturbation diversity (e.g., Chondrites, Palaeophycus, Planolites, Teichichnus, Thalassinoides, and Zoophycos), and a decline of organic-carbon content (via oxidation and consumption). Physical and biological attributes of this mudstone-dominated succession are used to reconstruct sedimentary processes and depositional conditions. Although a stratified-basin model has previously been proposed for the Geneseo Formation, observations made in this study do not support that interpretation. Collectively, our observations indicate shelfal mud deposition above storm-wave base, in a relatively energetic environment with persistent lateral transport and advection by oscillatory flow, wave-induced currents, river-flood, and storm-wave generated offshore-directed underflows, as well as storm setup-relaxation flows.

@article{doi102110jsr201588,
    author = "Wilson, Ryan and Schieber, Jüergen",
    title = "Sedimentary Facies and Depositional Environment of the Middle Devonian Geneseo Formation of New York, U.S.A.",
    year = "2015",
    journal = "Journal of Sedimentary Research",
    abstract = "Abstract Detailed facies characterization of the Middle Devonian Geneseo Formation in the Northern Appalachian Basin (NAB) shows a rich assembly of sedimentary features and textures that suggest shelfal mud deposition in a storm-dominated, shallow epeiric sea. At the time of deposition, Acadian uplift supplied fine-grained detritus from the east and stimulated delta growth. As sediment was shed from the hinterland, distribution of mudstone facies was controlled by a combination of autogenic processes and a general rise in sea level. The vertical and lateral distribution of nine mudstone facies observed in this succession indicates an overall shallowing-upwards trend (westward progradation of Catskill delta) with multiple modes of sediment transport and deposition. The water column became more oxygenated upsection as indicated by an increase in benthic fauna diversity (e.g., Leiorhynchus and Orbiculoidea), increasing bioturbation diversity (e.g., Chondrites, Palaeophycus, Planolites, Teichichnus, Thalassinoides, and Zoophycos), and a decline of organic-carbon content (via oxidation and consumption). Physical and biological attributes of this mudstone-dominated succession are used to reconstruct sedimentary processes and depositional conditions. Although a stratified-basin model has previously been proposed for the Geneseo Formation, observations made in this study do not support that interpretation. Collectively, our observations indicate shelfal mud deposition above storm-wave base, in a relatively energetic environment with persistent lateral transport and advection by oscillatory flow, wave-induced currents, river-flood, and storm-wave generated offshore-directed underflows, as well as storm setup-relaxation flows.",
    url = "https://doi.org/10.2110/jsr.2015.88",
    doi = "10.2110/jsr.2015.88",
    openalex = "W2288815570",
    references = "bridge1994marine, doi10113000167606198394459ftaspi20co2"
}

The article presents Italian philosopher Roberto Esposito's critique of the US-based account of "Theory" as the assimilation of national critical traditions. It goes on to argue for the potential of the recent phenomenon of Italian Theory to question the boundaries of American Studies and for its influence on the reconfiguration of the field. Discussion highlights the element of conflict in the shaping of American Studies as a field with a unified intellectual order and its relentless forward movement outside its constituted limits.

@article{openalexw2622500167,
    author = "Mitrano, Mena",
    title = "American Studies as Italian Theory",
    year = "2017",
    journal = "Review of International American Studies (International American Studies Association)",
    abstract = {The article presents Italian philosopher Roberto Esposito's critique of the US-based account of "Theory" as the assimilation of national critical traditions. It goes on to argue for the potential of the recent phenomenon of Italian Theory to question the boundaries of American Studies and for its influence on the reconfiguration of the field. Discussion highlights the element of conflict in the shaping of American Studies as a field with a unified intellectual order and its relentless forward movement outside its constituted limits.},
    openalex = "W2622500167"
}

@article{openalexw2916778825,
    author = "Portinaro, Pier Paolo",
    title = {Le mani su Machiavelli. Una critica dell'"Italian Theory"},
    year = "2018",
    openalex = "W2916778825"
}

@incollection{esposito2019genealogia,
    author = "Esposito, Roberto",
    title = "Genealogia dell’ Italian Thought",
    year = "2019",
    booktitle = "Italia senza nazione",
    url = "https://doi.org/10.2307/j.ctvkwnp2r.6",
    doi = "10.2307/j.ctvkwnp2r.6",
    openalex = "W2962751132",
    pages = "59-72"
}

Ever since its “birth certificate” on February 25, 1545, Commedia dell’arte’s substantial resources of itineracy, improvisation, subversion, extraterritoriality, extemporaneity, laughter, and joy have unceasingly unveiled their essential mutability and ambiguity, prompting UNESCO’s depiction of commedia as an “invisible and intangible cultural asset”. The present study attempts to disclose the diasporic transgressions of Commedia dell’arte by considering four basic dimensions: the formal, the tropological, the topological, and the temporal, respectively. This approach further examines how and to what extent the diasporic transgressions of Commedia dell’arte can be elucidated by considering the afore-mentioned categories of explanation. Ultimately, the itinerant and improvisational character of Commedia dell’arte is explanatory for the mutations and developments within the four dimensions themselves.

@article{doi1024193cechinox20234502,
    author = "Gherasim, Gabriel C.",
    title = "Diasporic Transgressions of Commedia dell’arte",
    year = "2023",
    journal = "Caietele Echinox",
    abstract = "Ever since its “birth certificate” on February 25, 1545, Commedia dell’arte’s substantial resources of itineracy, improvisation, subversion, extraterritoriality, extemporaneity, laughter, and joy have unceasingly unveiled their essential mutability and ambiguity, prompting UNESCO’s depiction of commedia as an “invisible and intangible cultural asset”. The present study attempts to disclose the diasporic transgressions of Commedia dell’arte by considering four basic dimensions: the formal, the tropological, the topological, and the temporal, respectively. This approach further examines how and to what extent the diasporic transgressions of Commedia dell’arte can be elucidated by considering the afore-mentioned categories of explanation. Ultimately, the itinerant and improvisational character of Commedia dell’arte is explanatory for the mutations and developments within the four dimensions themselves.",
    url = "https://doi.org/10.24193/cechinox.2023.45.02",
    doi = "10.24193/cechinox.2023.45.02",
    openalex = "W4391409359",
    references = "doi1010179781139236331003"
}

Desde hace unos años se viene hablando de la Italian Theory como propuesta de una modernidad otra. Conceptos como bíos, communitas, immunitas, sacertas, imperium se sitúan en el centro del debate filosófico contemporáneo gracias a autores como Roberto Esposito, Giorgio Agamben o Toni Negri. Si bien se trata de un pensamiento heterogéneo, hay tres elementos que comparten: vida, historia y política. No obstante, hay una laguna que este artículo pretende colmar. Se trata de pensar la Italian Theory desde parámetros jurídicos. Se proponen las obras de Stefano Rodotà y Eligio Resta como ejemplos de esta corriente de pensamiento que nos abre una vía distinta a la hermenéutica, la deconstrucción o la filosofía analítica.

@article{doi107203cefd4825831,
    author = "López, Daniel J. García",
    title = "Un horizonte jurídico para la Italian Theory",
    year = "2023",
    journal = "Cuadernos Electrónicos de Filosofía del Derecho",
    abstract = "Desde hace unos años se viene hablando de la Italian Theory como propuesta de una modernidad otra. Conceptos como bíos, communitas, immunitas, sacertas, imperium se sitúan en el centro del debate filosófico contemporáneo gracias a autores como Roberto Esposito, Giorgio Agamben o Toni Negri. Si bien se trata de un pensamiento heterogéneo, hay tres elementos que comparten: vida, historia y política. No obstante, hay una laguna que este artículo pretende colmar. Se trata de pensar la Italian Theory desde parámetros jurídicos. Se proponen las obras de Stefano Rodotà y Eligio Resta como ejemplos de esta corriente de pensamiento que nos abre una vía distinta a la hermenéutica, la deconstrucción o la filosofía analítica.",
    url = "https://doi.org/10.7203/cefd.48.25831",
    doi = "10.7203/cefd.48.25831",
    openalex = "W4379058340",
    references = "esposito2019genealogia, openalexw106179152, openalexw143096119, openalexw2508351709, openalexw2622500167, openalexw2790307112, openalexw2915299798, openalexw2916778825, openalexw650044077, openalexw652789178"
}

OBJECTIVE: Uveal melanoma (UM) is the most common primary intraocular malignancy in adults, characterized by distinct histopathological and molecular features and often associated with poor prognosis due to its high metastatic potential. While histology, BAP1 status, and chromosomal changes are established prognostic markers, integration of morphological, immunophenotypic, and molecular data is evolving. METHODS: We retrospectively analyzed 84 UM cases from a single institution using an integrated approach combining histological classification, immunohistochemical profiling, and targeted next-generation sequencing with a 63-gene panel. Tissue microarrays were used for immunophenotyping, and mutation data were stratified by prognostic outcomes. RESULTS: Most tumors were localized to the choroid and predominantly exhibited spindle-cell morphology. Mutations in GNAQ or GNA11 were identified in 83% of sequenced cases. Loss of BAP1 expression correlated with epithelioid histology and denser T-cell infiltration yet lacked PD-L1 expression. Aberrant p53 staining was more frequent in spindle-cell tumors, though TP53 mutations were rare, suggesting functional inactivation through other mechanisms. Notably, mutations typically associated with cutaneous melanomas (e.g., BRAF, KIT, CDKN2A) were also detected, particularly in a single iris melanoma, suggesting site-specific molecular convergence. Additional recurrent alterations were found in NOTCH1, PTEN, PIK3CA, and KDR, implicating the mTOR and VEGF signaling pathways. A high mutational burden, along with mutations in genes such as H3F3A, IDH2, JAK3, and ESR1, was more frequent in tumors with poorer prognosis, supporting their potential role in disease aggressiveness. CONCLUSIONS: This study highlights the heterogeneous molecular landscape of UM and underscores the importance of integrating histopathological and molecular data for improved prognostic stratification. The identification of potential therapeutic targets and atypical mutations typically associated with other melanoma subtypes suggests avenues for future research and tailored therapeutic strategies.

@article{doi10320741591951x1659,
    author = "Fortarezza, Francesco and Zarrilli, Giovanni and Munari, Giada and Angerilli, Valentina and Balistreri, Mariangela and Piccin, Luisa and Salizzato, Valentina and Pigozzo, Jacopo and Midena, Giulia and Parrozzani, Raffaele and Guarneri, Valentina and Midena, Edoardo and Sbaraglia, Marta and Fassan, Matteo and Dei Tos, Angelo Paolo",
    title = "Immunohistochemical and molecular profiling of uveal melanoma: clinicopathological correlations from an Italian cohort.",
    year = "2025",
    journal = "Pathologica",
    abstract = "OBJECTIVE: Uveal melanoma (UM) is the most common primary intraocular malignancy in adults, characterized by distinct histopathological and molecular features and often associated with poor prognosis due to its high metastatic potential. While histology, BAP1 status, and chromosomal changes are established prognostic markers, integration of morphological, immunophenotypic, and molecular data is evolving. METHODS: We retrospectively analyzed 84 UM cases from a single institution using an integrated approach combining histological classification, immunohistochemical profiling, and targeted next-generation sequencing with a 63-gene panel. Tissue microarrays were used for immunophenotyping, and mutation data were stratified by prognostic outcomes. RESULTS: Most tumors were localized to the choroid and predominantly exhibited spindle-cell morphology. Mutations in GNAQ or GNA11 were identified in 83\% of sequenced cases. Loss of BAP1 expression correlated with epithelioid histology and denser T-cell infiltration yet lacked PD-L1 expression. Aberrant p53 staining was more frequent in spindle-cell tumors, though TP53 mutations were rare, suggesting functional inactivation through other mechanisms. Notably, mutations typically associated with cutaneous melanomas (e.g., BRAF, KIT, CDKN2A) were also detected, particularly in a single iris melanoma, suggesting site-specific molecular convergence. Additional recurrent alterations were found in NOTCH1, PTEN, PIK3CA, and KDR, implicating the mTOR and VEGF signaling pathways. A high mutational burden, along with mutations in genes such as H3F3A, IDH2, JAK3, and ESR1, was more frequent in tumors with poorer prognosis, supporting their potential role in disease aggressiveness. CONCLUSIONS: This study highlights the heterogeneous molecular landscape of UM and underscores the importance of integrating histopathological and molecular data for improved prognostic stratification. The identification of potential therapeutic targets and atypical mutations typically associated with other melanoma subtypes suggests avenues for future research and tailored therapeutic strategies.",
    url = "https://pmc.ncbi.nlm.nih.gov/articles/PMC13094339/",
    doi = "10.32074/1591-951X-1659",
    openalex = "W7152531059",
    pmcid = "PMC13094339",
    pmid = "41954344",
    references = "doi101002path5384, doi101002sici10970142199810158381664aidcncr2330co2g, doi101007s4048701800568, doi101016jajo200505034, doi101016jccell201707003, doi101016jctrv201201002, doi101016jophtha201303012, doi101038modpathol201443, doi10320741591951x1006, doi103389fonc2021644857"
}

BACKGROUND AND OBJECTIVES: X-linked Emery-Dreifuss muscular dystrophy (EDMD1) is a rare early-onset myopathy, affecting 1/400.000 individuals, characterized by humeroperoneal weakness, contractures and cardiac involvement. EDMD1 natural history has been poorly investigated, with most of the studies including only a few patients. The aim of the study was to investigate the clinical and molecular features in a large Italian cohort of EDMD1. METHODS: We retrospectively collected data of 38 genetically defined EDMD1 males (16 members of 6 families, and 22 sporadic cases) and 10 female carriers, from 14 referral neuromuscular centers in Italy. Patients were included only if showing detectable muscle weakness or contractures at the neurological examination. RESULTS: Mean age at onset of patients was 12.0 ± 3.4 years (range 2-61). Among them 32 (84.2%) presented with muscle weakness or contractures and 6 (15.8%) with cardiac symptoms. Twenty-nine (76.3%) patients had heart involvement, with a mean age at onset of 24.2 ± 13.1 years. Age at disease onset was significantly different (p = 0.0011) between patients with cardiac onset and those with muscular onset. Moreover, patients with muscular onset had worse (p = 0.0163) motor performance at last follow-up (LFU), according to Gardner-Medwin-Walton Scale (GMWS). Loss of walking ability was observed in 3/38 (7.9%) patients, after a disease duration of 35, 49 and 35 years, respectively. Most of the remaining patients showed a mild disease severity, scoring 1-3 at the GMWS at LFU. Ten EMD mutations were novel and unreported in the literature. CONCLUSIONS: Our data provide further insight in the field of EDMD1 and suggest that the disease natural history is dominated by heart involvement, while skeletal muscle weakness slowly progresses over the years.

@article{doi101007s0041502613834w,
    author = "Elkoush, A and Giossi, R and Gadaleta, G and Maccabeo, A and Pinna, F and Palladino, A and Giannotta, M and Leone, D and Colacicco, G and Risi, B and Gibertini, S and Verriello, L and Panicucci, C and Bruno, C and Pane, M and Messina, S and Rodolico, C and Pini, A and Vattemi, G and Filosto, M and Padovani, A and Sansone, V A and Carella, M C and Forleo, C and Tonin, P and Fiorillo, C and Politano, L and Carboni, N and Mongini, T and Maggi, L",
    title = "X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.",
    year = "2026",
    journal = "Journal of neurology",
    abstract = "BACKGROUND AND OBJECTIVES: X-linked Emery-Dreifuss muscular dystrophy (EDMD1) is a rare early-onset myopathy, affecting 1/400.000 individuals, characterized by humeroperoneal weakness, contractures and cardiac involvement. EDMD1 natural history has been poorly investigated, with most of the studies including only a few patients. The aim of the study was to investigate the clinical and molecular features in a large Italian cohort of EDMD1. METHODS: We retrospectively collected data of 38 genetically defined EDMD1 males (16 members of 6 families, and 22 sporadic cases) and 10 female carriers, from 14 referral neuromuscular centers in Italy. Patients were included only if showing detectable muscle weakness or contractures at the neurological examination. RESULTS: Mean age at onset of patients was 12.0 ± 3.4 years (range 2-61). Among them 32 (84.2\%) presented with muscle weakness or contractures and 6 (15.8\%) with cardiac symptoms. Twenty-nine (76.3\%) patients had heart involvement, with a mean age at onset of 24.2 ± 13.1 years. Age at disease onset was significantly different (p = 0.0011) between patients with cardiac onset and those with muscular onset. Moreover, patients with muscular onset had worse (p = 0.0163) motor performance at last follow-up (LFU), according to Gardner-Medwin-Walton Scale (GMWS). Loss of walking ability was observed in 3/38 (7.9\%) patients, after a disease duration of 35, 49 and 35 years, respectively. Most of the remaining patients showed a mild disease severity, scoring 1-3 at the GMWS at LFU. Ten EMD mutations were novel and unreported in the literature. CONCLUSIONS: Our data provide further insight in the field of EDMD1 and suggest that the disease natural history is dominated by heart involvement, while skeletal muscle weakness slowly progresses over the years.",
    url = "https://pmc.ncbi.nlm.nih.gov/articles/2949309/",
    doi = "10.1007/s00415-026-13834-w",
    openalex = "W7156892733",
    pmcid = "2949309",
    pmid = "42047848",
    references = "doi10100215318249200008482170aidana630co2j, doi101016jnmd202207397, doi101016s096089660000105x, doi101038s41431025018278, doi1010801949103420181462635, doi101093eurheartjehad561, doi101093hmg75855, doi101093nargky736, doi101136jmg2610637, doi10116101str00000643224766749"
}

BACKGROUND: The Mediterranean diet (MD) is a dietary pattern associated with reduced chronic disease risk and increased longevity. This systematic review and meta-analysis aimed to evaluate the association between adherence to the MD and all-cause mortality in adult populations. METHODS: A comprehensive literature search was conducted in PubMed/MEDLINE, Cochrane Library, Embase, and Scopus (search date: February 28, 2024) without date restrictions. Prospective and retrospective cohort studies examining the association between MD adherence (measured by any validated score) and all-cause mortality were included. Study selection and data extraction were performed independently by pairs of reviewers using Covidence. Risk of bias was assessed using the Newcastle-Ottawa Scale. Random-effects meta-analysis was conducted, estimating pooled relative risks (RRs) per 1-point increment in MD adherence score. Heterogeneity was assessed using the I² statistic, and publication bias was evaluated by funnel plot. Certainty of evidence was graded using the NUTRIGRADE approach. RESULTS: Out of 5229 screened records, 54 cohort studies were included, comprising 1 833 267 participants and 346 034 deaths. Studies spanned diverse populations and geographic regions, with follow-up ranging from 2 to 60 y. The pooled RR for all-cause mortality per 1-point increase in MD adherence was 0.96 (95% CI: 0.95-0.97), indicating a statistically significant protective effect. The overall certainty of evidence was rated as moderate. CONCLUSIONS: Higher adherence to the MD is associated with a reduced risk of all-cause mortality. These findings support public health strategies promoting the MD as a sustainable dietary model for longevity.

@article{doi101016jnut2026113189,
    author = "Nucci, Daniele and Ragusa, Francesco Saverio and Mazza, Elisa and Veronese, Nicola and Gianfredi, Vincenza and Volpe, Massimo and Maggi, Stefania and Onder, Graziano and Sieber, Cornel and Zanetti, Michela and Silano, Marco and Chernykh, Anastasia and Lorenzo, Francesco Di and Romiti, Giulio Francesco and Schirò, Piero and Ungar, Andrea and Group, Mediterranean Diet Guideline",
    title = {Adherence to the Mediterranean diet and all-cause mortality: A systematic review and meta-analysis within the Italian National Guidelines "La Dieta Mediterranea".},
    year = "2026",
    journal = "Nutrition (Burbank, Los Angeles County, Calif.)",
    abstract = "BACKGROUND: The Mediterranean diet (MD) is a dietary pattern associated with reduced chronic disease risk and increased longevity. This systematic review and meta-analysis aimed to evaluate the association between adherence to the MD and all-cause mortality in adult populations. METHODS: A comprehensive literature search was conducted in PubMed/MEDLINE, Cochrane Library, Embase, and Scopus (search date: February 28, 2024) without date restrictions. Prospective and retrospective cohort studies examining the association between MD adherence (measured by any validated score) and all-cause mortality were included. Study selection and data extraction were performed independently by pairs of reviewers using Covidence. Risk of bias was assessed using the Newcastle-Ottawa Scale. Random-effects meta-analysis was conducted, estimating pooled relative risks (RRs) per 1-point increment in MD adherence score. Heterogeneity was assessed using the I² statistic, and publication bias was evaluated by funnel plot. Certainty of evidence was graded using the NUTRIGRADE approach. RESULTS: Out of 5229 screened records, 54 cohort studies were included, comprising 1 833 267 participants and 346 034 deaths. Studies spanned diverse populations and geographic regions, with follow-up ranging from 2 to 60 y. The pooled RR for all-cause mortality per 1-point increase in MD adherence was 0.96 (95\% CI: 0.95-0.97), indicating a statistically significant protective effect. The overall certainty of evidence was rated as moderate. CONCLUSIONS: Higher adherence to the MD is associated with a reduced risk of all-cause mortality. These findings support public health strategies promoting the MD as a sustainable dietary model for longevity.",
    url = "https://pubmed.ncbi.nlm.nih.gov/41930792/",
    doi = "10.1016/j.nut.2026.113189",
    openalex = "W7133529740",
    pmid = "41930792",
    references = "doi101016s0140673620307522, doi101056nejmoa025039, doi101093ajcn6161402s, doi101136bmj384156441558f, doi101136bmj39489470347ad, doi101136bmja1344, doi101136bmjd5928, doi101136bmjn71, doi103390biomedicines9070781, doi103945jn113189407"
}