يعرض 1 - 10 نتائج من 43 نتيجة بحث عن '"Romaniello, Romina"', وقت الاستعلام: 0.70s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.

    المؤلفون: Romaniello, Romina1, Gagliardi, Chiara1, Desalvo, Patrizia1, Provenzi, Livio2, Battini, Roberta3,4, Bertini, Enrico5, Bonati, Maria Teresa6, Briguglio, Marilena7, D'Arrigo, Stefano8, Dotti, Maria Teresa9, Giordano, Lucio10, Macaluso, Claudio11, Moroni, Isabella12, Nuovo, Sara13,14, Santucci, Margherita15,16, Signorini, Sabrina2, Stanzial, Franco17, Valente, Enza Maria18,19, Borgatti, Renato2,20

    المصدر: Disability & Rehabilitation. Sep2022, Vol. 44 Issue 18, p4966-4973. 8p.

    مصطلحات موضوعية: *SOCIAL participation, *AFFINITY groups, *NOSOLOGY, *CROSS-sectional method, *ACTIVITIES of daily living, *INTERVIEWING, *FUNCTIONAL assessment, *SUPPORT groups, *PATIENT-family relations, *RESEARCH funding, *DESCRIPTIVE statistics, *COMMUNICATION, *INTERPERSONAL relations, *PHYSICAL mobility, *PATIENT-professional relations, *JOUBERT syndrome, *HEALTH self-care, *ADULTS

    مصطلحات جغرافية: ITALY


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  2. 2
    دورية أكاديمية
    Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1 -Related Disorders.

    المؤلفون: Romaniello, Romina1 (AUTHOR) romina.romaniello@lanostrafamiglia.it, Pasca, Ludovica2,3 (AUTHOR) ludovica.pasca01@universitadipavia.it, Panzeri, Elena4 (AUTHOR) elena.panzeri@lanostrafamiglia.it, D'Abrusco, Fulvio5 (AUTHOR) fulvio.dabrusco01@universitadipavia.it, Travaglini, Lorena6 (AUTHOR) lorena.travaglini@opbg.net, Serpieri, Valentina7 (AUTHOR) valentina.serpieri01@universitadipavia.it, Signorini, Sabrina3 (AUTHOR), Aiello, Chiara6 (AUTHOR) chiara.aiello@opbg.net, Bertini, Enrico6 (AUTHOR) enricosilvio.bertini@opbg.net, Bassi, Maria Teresa4 (AUTHOR) mariateresa.bassi@lanostrafamiglia.it, Valente, Enza Maria5,7 (AUTHOR) enzamaria.valente@unipv.it, Zanni, Ginevra6 (AUTHOR) ginevra.zanni@opbg.net, Borgatti, Renato2,3 (AUTHOR) renato.borgatti@mondino.it, Arrigoni, Filippo8 (AUTHOR) filippo.arrigoni@asst-fbf-sacco.it

    المصدر: International Journal of Molecular Sciences. Jun2022, Vol. 23 Issue 12, p6723-6723. 13p.

    مصطلحات موضوعية: *INTRACELLULAR calcium, *ATROPHY, *SPINOCEREBELLAR ataxia, *PURKINJE cells, *CALCIUM channels, *DIAGNOSIS

    النص الكامل

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  3. 3
    دورية أكاديمية
    Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI.

    المؤلفون: Romaniello, Romina1 (AUTHOR) romina.romaniello@lanostrafamiglia.it, Arrigoni, Filippo2 (AUTHOR), De Salvo, Patrizia1 (AUTHOR), Bonaglia, Maria Clara3 (AUTHOR), Panzeri, Elena4 (AUTHOR), Bassi, Maria Teresa4 (AUTHOR), Parazzini, Cecilia5 (AUTHOR), Righini, Andrea5 (AUTHOR), Borgatti, Renato6,7 (AUTHOR)

    المصدر: Annals of Clinical & Translational Neurology. Dec2021, Vol. 8 Issue 12, p2280-2288. 9p.

    مصطلحات موضوعية: *AGENESIS of corpus callosum, *FETAL MRI, *NEUROPSYCHOLOGICAL tests, *PRENATAL diagnosis, *SCHOOL children, *PRENATAL bonding

    النص الكامل

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  4. 4
    دورية أكاديمية
    Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5.

    المؤلفون: Romaniello, Romina1 (AUTHOR) romina.romaniello@lanostrafamiglia.it, Citterio, Andrea2 (AUTHOR), Panzeri, Elena2 (AUTHOR), Arrigoni, Filippo3 (AUTHOR), De Rinaldis, Marta4 (AUTHOR), Trabacca, Antonio4 (AUTHOR), Bassi, Maria Teresa2 (AUTHOR)

    المصدر: Annals of Clinical & Translational Neurology. Apr2021, Vol. 8 Issue 4, p956-963. 8p.

    مصطلحات موضوعية: *GENETIC mutation, *DENTATE nucleus, *MISSENSE mutation, *SPINOCEREBELLAR ataxia, *GENES, *CEREBELLUM degeneration, *ATROPHY

    النص الكامل

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  5. 5
    دورية أكاديمية
    The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.

    المؤلفون: Arrigoni, Filippo1 filippo.arrigoni@lanostrafamiglia.it, Romaniello, Romina2, Peruzzo, Denis1, Poretti, Andrea3, Bassi, Maria Teresa4, Pierpaoli, Carlo5, Valente, Enza Maria6,7, Nuovo, Sara7,8, Boltshauser, Eugen9, Huisman, Thierry André Gerard Marie3, Triulzi, Fabio10, Borgatti, Renato2

    المصدر: European Radiology. Feb2019, Vol. 29 Issue 2, p770-782. 13p. 2 Color Photographs, 2 Black and White Photographs, 4 Charts.

    مصطلحات موضوعية: *MAGNETIC resonance imaging, *BRAIN imaging, *HUMAN abnormalities, *COMPUTED tomography, *GENETIC mutation, *TUBULINS


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  6. 6
    دورية أكاديمية
    Tubulin genes and malformations of cortical development.

    المؤلفون: Romaniello, Romina1, Arrigoni, Filippo2, Fry, Andrew E.3, Bassi, Maria T.4, Rees, Mark I.5, Borgatti, Renato1, Pilz, Daniela T.6, Cushion, Thomas D.1,7 CushionT@cardiff.ac.uk

    المصدر: European Journal of Medical Genetics. Dec2018, Vol. 61 Issue 12, p744-754. 11p.

    مصطلحات موضوعية: *TUBULINS, *CEREBRAL cortex, *NEURAL development, *MICROTUBULES, *LISSENCEPHALY


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  7. 7
    دورية أكاديمية
    Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

    المؤلفون: Romaniello, Romina1, Arrigoni, Filippo2, Panzeri, Elena3, Poretti, Andrea, Micalizzi, Alessia, Citterio, Andrea3, Bedeschi, Maria4, Berardinelli, Angela5, Cusmai, Raffaella6, D'Arrigo, Stefano7, Ferraris, Alessandro8, Hackenberg, Annette9, Kuechler, Alma10, Mancardi, Margherita11, Nuovo, Sara, Oehl-Jaschkowitz, Barbara12, Rossi, Andrea13, Signorini, Sabrina5, Tüttelmann, Frank14, Wahl, Dagmar15

    المصدر: European Radiology. Dec2017, Vol. 27 Issue 12, p5080-5092. 13p.

    مصطلحات موضوعية: *DYSPLASIA, *BRAIN imaging, *GENETIC mutation, *GENETIC correlations, *TUBULIN genetics


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  8. 8
    دورية أكاديمية
    Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.

    المؤلفون: Romaniello, Romina1, Marelli, Susan1, Borgatti, Renato1, Giorda, Roberto2, Bassi, Maria T.2, Bedeschi, Maria F.3, Bonaglia, Maria C.4, Arrigoni, Filippo5, Triulzi, Fabio5

    المصدر: Journal of Child Neurology. Jan2017, Vol. 32 Issue 1, p60-71. 12p.

    مصطلحات موضوعية: *AGENESIS of corpus callosum, *BRAIN abnormalities, *INTELLECTUAL disabilities, *COMPARATIVE genomic hybridization, *EPILEPSY


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  9. 9
    دورية أكاديمية
    Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype.

    المؤلفون: Arrigoni, Filippo1 filippo.arrigoni@bp.lnf.it, Romaniello, Romina2, Peruzzo, Denis1, Righini, Andrea3, Parazzini, Cecilia3, Colombo, Paola4, Bassi, Maria5, Triulzi, Fabio6, Borgatti, Renato2, Bassi, Maria Teresa7 (AUTHOR)

    المصدر: European Radiology. Aug2016, Vol. 26 Issue 8, p2587-2596. 10p.

    مصطلحات موضوعية: *CORPUS callosum, *MAGNETIC resonance imaging of the brain, *PHENOTYPES, *DIFFUSION tensor imaging, *HIPPOCAMPUS (Brain), *DISEASES


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  10. 10
    دورية أكاديمية
    Mutations in α- and β-tubulin encoding genes: Implications in brain malformations.

    المؤلفون: Romaniello, Romina1, Arrigoni, Filippo2, Bassi, Maria Teresa3, Borgatti, Renato1 renato.borgatti@bp.lnf.it

    المصدر: Brain & Development. Mar2015, Vol. 37 Issue 3, p273-280. 8p.

    مصطلحات موضوعية: *GENETIC mutation, *TUBULINS, *GENETIC code, *DIAGNOSIS of brain diseases, *GENE expression, *NEURAL development, *NEURAL physiology


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