يعرض 1 - 10 نتائج من 41 نتيجة بحث عن '"Lispi, Ludovico"', وقت الاستعلام: 0.94s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Nefl-Related Charcot-Marie tooth disease due to P440L mutation in two italian families: expanding the phenotype and defining modulating factors

    المؤلفون: Petrucci, Antonio, Lispi, Ludovico, Garibaldi, Matteo, Frezza, Erika, Moro, Francesca, Massa, Roberto, Santorelli, Filippo Maria

    المساهمون: Petrucci, Antonio, Lispi, Ludovico, Garibaldi, Matteo, Frezza, Erika, Moro, Francesca, Massa, Roberto, Santorelli, Filippo Maria

    مصطلحات موضوعية: NEFL, CMT

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36809754; info:eu-repo/semantics/altIdentifier/wos/WOS:000936878900001; journal:EUROPEAN NEUROLOGY; https://hdl.handle.net/11573/1676835Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164250246

    الإتاحة: https://doi.org/10.1159/000529706Test
    https://hdl.handle.net/11573/1676835Test

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  2. 2
    دورية أكاديمية
    Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

    المؤلفون: Astrea, Guja, Petrucci, Antonio, Cassandrini, Denise, Savarese, Marco, Trovato, Rosanna, Lispi, Ludovico, Rubegni, Anna, Giacanelli, Manlio, Massa, Roberto, Santorelli, Filippo M., NIGRO, Vincenzo

    المساهمون: Astrea, Guja, Petrucci, Antonio, Cassandrini, Denise, Savarese, Marco, Trovato, Rosanna, Lispi, Ludovico, Rubegni, Anna, Giacanelli, Manlio, Massa, Roberto, Nigro, Vincenzo, Santorelli, Filippo M.

    مصطلحات موضوعية: Core myopathie, MYH7, Muscle MRI, Next-generation sequencing, RYR1

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000372575800002; volume:17; issue:1; firstpage:25; journal:BMC MEDICAL GENETICS; http://hdl.handle.net/11591/349501Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85008419328

    الإتاحة: https://doi.org/10.1186/s12881-016-0288-0Test
    http://hdl.handle.net/11591/349501Test

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  3. 3
    دورية أكاديمية
    How genetics affects the brain to produce higher-level dysfunctions in myotonic dystrophy type 1

    المؤلفون: Serra, Laura, Petrucci, Antonio, Spanò, Barbara, Torso, Mario, Olivito, Giusy, Lispi, Ludovico, Costanzi-Porrini, Sandro, Giulietti, Giovanni, Koch, Giacomo, Giacanelli, Manlio, Caltagirone, Carlo, Cercignani, Mara, Bozzali, Marco

    المساهمون: Serra, Laura, Petrucci, Antonio, Spanò, Barbara, Torso, Mario, Olivito, Giusy, Lispi, Ludovico, Costanzi-Porrini, Sandro, Giulietti, Giovanni, Koch, Giacomo, Giacanelli, Manlio, Caltagirone, Carlo, Cercignani, Mara, Bozzali, Marco

    مصطلحات موضوعية: myotonic dystrophy, voxel-based morphometry, diffusion-weighted imageing

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26214024; info:eu-repo/semantics/altIdentifier/wos/WOS:000363711000003; volume:30; issue:1; firstpage:21; lastpage:31; numberofpages:11; journal:FUNCTIONAL NEUROLOGY; https://hdl.handle.net/11573/1670347Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84938083697

    الإتاحة: https://doi.org/10.11138/FNeur/2015.30.1.021Test
    https://hdl.handle.net/11573/1670347Test

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  4. 4
    دورية أكاديمية
    Loss-of-function mutations in the SIGMAR1gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca 2+ signalling

    المؤلفون: Gregianin, Elisa, Pallafacchina, Giorgia, Zanin, Sofia, Crippa, Valeria, Rusmini, Paola, Poletti, Angelo, Fang, Mingyan, Li, Zhouxuan, Diano, Laura, Petrucci, Antonio, Lispi, Ludovico, Cavallaro, Tiziana, Fabrizi, Gian M., Muglia, Maria, Boaretto, Francesca, Vettori, Andrea, Rizzuto, Rosario, Mostacciuolo, Maria L., Vazza, Giovanni

    المصدر: Human Molecular Genetics ; volume 25, issue 17, page 3741-3753 ; ISSN 0964-6906 1460-2083

    الإتاحة: https://doi.org/10.1093/hmg/ddw220Test
    https://academic.oup.com/hmg/article/2525832/Lossoffunction-mutations-in-the-SIGMAR1-gene-causeTest

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  5. 5
    دورية أكاديمية
    Electrophysiological abnormalities in iatrogenic botulism: Two case reports and review of the literature

    المؤلفون: Leonardi, Luca, Haggiag, Shalom, Petrucci, Antonio, Lispi, Ludovico

    المساهمون: Leonardi, Luca, Haggiag, Shalom, Petrucci, Antonio, Lispi, Ludovico

    مصطلحات موضوعية: Botulinum neurotoxin type/A, Electrophysiological abnormalitie, Iatrogenic botulism, Surgery, Neurology, Neurology (clinical), Physiology (medical)

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30348587; info:eu-repo/semantics/altIdentifier/wos/WOS:000456753600026; journal:JOURNAL OF CLINICAL NEUROSCIENCE; https://hdl.handle.net/11573/1198788Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85055019329

    الإتاحة: https://doi.org/10.1016/j.jocn.2018.10.059Test
    https://hdl.handle.net/11573/1198788Test

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  6. 6
    دورية أكاديمية
    Clinical and genetic characterization of an Italian family with slow-channel syndrome

    المؤلفون: Angelini, Corrado, Lispi, Ludovico, Salvoro, Cecilia, Mostacciuolo, Maria Luisa, Vazza, Giovanni

    المساهمون: Angelini, Corrado, Lispi, Ludovico, Salvoro, Cecilia, Mostacciuolo, Maria Luisa, Vazza, Giovanni

    مصطلحات موضوعية: CHRNE mutation, Congenital myasthenic syndrome, Linkage analysi, Slow-channel congenital myasthenic syndrome, Whole-exome sequencing, Neurology (clinical), Psychiatry and Mental Health

    الوقت: 2708

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30542963; info:eu-repo/semantics/altIdentifier/wos/WOS:000462505300008; volume:40; issue:3; firstpage:503; lastpage:507; numberofpages:5; journal:NEUROLOGICAL SCIENCES; http://hdl.handle.net/11577/3294488Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85058419466; https://link.springer.com/journal/10072Test

    الإتاحة: https://doi.org/10.1007/s10072-018-3645-2Test
    http://hdl.handle.net/11577/3294488Test
    https://link.springer.com/journal/10072Test

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  7. 7
    دورية أكاديمية
    Electrophysiological abnormalities in iatrogenic botulism: Two case reports and review of the literature

    المؤلفون: Leonardi, Luca, Haggiag, Shalom, Petrucci, Antonio, Lispi, Ludovico

    المصدر: Journal of Clinical Neuroscience ; volume 60, page 138-141 ; ISSN 0967-5868

    مصطلحات موضوعية: Physiology (medical), Neurology (clinical), Neurology, General Medicine, Surgery

    الإتاحة: https://doi.org/10.1016/j.jocn.2018.10.059Test
    https://api.elsevier.com/content/article/PII:S0967586818314310?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0967586818314310?httpAccept=text/plainTest

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  8. 8
    دورية أكاديمية
    Electrophysiologic abnormalities in iatrogenic botulism: 2 case reports

    المؤلفون: Lispi, Ludovico, Leonardi, Luca, Haggiag, Shalom

    المصدر: Toxicon ; volume 156, page S69 ; ISSN 0041-0101

    مصطلحات موضوعية: Toxicology

    الإتاحة: https://doi.org/10.1016/j.toxicon.2018.11.164Test
    https://api.elsevier.com/content/article/PII:S0041010118308857?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0041010118308857?httpAccept=text/plainTest

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  9. 9
    دورية أكاديمية
    ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities

    المؤلفون: Giacanelli, Manlio, Petrucci, Antonio, Lispi, Ludovico, Luna, Rodolfo, Neri, Giovanni, Gurrieri, Fiorella, Angelini, Corrado

    المصدر: Journal of the Neurological Sciences ; volume 379, page 36-38 ; ISSN 0022-510X

    مصطلحات موضوعية: Neurology (clinical), Neurology

    الإتاحة: https://doi.org/10.1016/j.jns.2017.05.041Test
    https://api.elsevier.com/content/article/PII:S0022510X17303374?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0022510X17303374?httpAccept=text/plainTest

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  10. 10
    دورية أكاديمية
    Idiopathic pes cavus in adults is not associated with neurophysiological impairment in the lower limbs

    المؤلفون: DI FABIO, ROBERTO, Lispi, Ludovico, Santorelli, Filippo Maria, Castagnoli, Claudio, Matrigale, Andrea, Dentini, Alessandra, LOCURATOLO, NICOLETTA, FATTAPPOSTA, FRANCESCO, PIERELLI, Francesco

    المساهمون: DI FABIO, Roberto, Lispi, Ludovico, Santorelli, Filippo Maria, Castagnoli, Claudio, Matrigale, Andrea, Dentini, Alessandra, Locuratolo, Nicoletta, Fattapposta, Francesco, Pierelli, Francesco

    مصطلحات موضوعية: Hammer toe, Neurophysiology, pes cavu, Neurology (clinical), Psychiatry and Mental Health

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26194535; info:eu-repo/semantics/altIdentifier/wos/WOS:000365711100018; volume:36; issue:12; firstpage:2287; lastpage:2290; numberofpages:4; journal:NEUROLOGICAL SCIENCES; http://hdl.handle.net/11573/810250Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84948387686; link.springer.de/link/service/journals/10072/index.htm

    الإتاحة: https://doi.org/10.1007/s10072-015-2334-7Test
    http://hdl.handle.net/11573/810250Test

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