Search Results - "Codemo V"

Correction to: Current territorial organization for access to revascularization therapies for acute ischemic stroke in the Veneto region (Italy) from 2017 to 2021.

Authors: Cappellari M Bonetti B Baracchini C et al.

Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Oct; Vol. 44 (10), pp. 3769.

Publication Type: Published Erratum

Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE; PubMed not MEDLINE

Current territorial organization for access to revascularization therapies for acute ischemic stroke in the Veneto region (Italy) from 2017 to 2021.

Authors: Cappellari M Bonetti B Baracchini C et al.

Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Jun; Vol. 44 (6), pp. 2033-2039. Date of Electronic Publication: 2023 Feb 08.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Authors: Fusto A Cassandrini D Fiorillo C et al.

Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2022 Apr 15; Vol. 10 (1), pp. 54. Date of Electronic Publication: 2022 Apr 15.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE

Molecular Insights and Orthopedic Management in Muscular Dystrophies: A Comprehensive Review.

Authors: Lejman, Jan Pytlak, Michał Danielewicz, Anna et al.

Source: International Journal of Molecular Sciences. Feb2026, Vol. 27 Issue 4, p1896. 18p.

The Clinical, Histological, and Genetic Spectrum of RYR1 Variants—A Multi-Center Israeli Cohort Study.

Authors: Ginsberg, Mira Michelson, Marina Aharoni, Sharon et al.

Source: Journal of Clinical Medicine. Feb2026, Vol. 15 Issue 4, p1388. 16p.

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Authors: Fattori F Maggi L Bruno C et al.

Source: Journal of neurology [J Neurol] 2015 Jul; Vol. 262 (7), pp. 1728-40. Date of Electronic Publication: 2015 May 10.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Neurological complications in hyperemesis gravidarum.

Authors: Zara G Codemo V Palmieri A et al.

Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2012 Feb; Vol. 33 (1), pp. 133-5. Date of Electronic Publication: 2011 Jul 01.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

RYR1 -Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.

Authors: Sabbatini, Daniele Gorgoglione, Domenico Minervini, Giovanni et al.

Source: Biomolecules (2218-273X). Nov2025, Vol. 15 Issue 11, p1599. 28p.

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.

Authors: Guglielmi V Vattemi G Gualandi F et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2013 Sep-Oct; Vol. 110 (1-2), pp. 162-9. Date of Electronic Publication: 2013 Jul 20.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.

Authors: Catteruccia M Fattori F Codemo V et al.

Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2013 Mar; Vol. 23 (3), pp. 229-38. Date of Electronic Publication: 2013 Feb 08.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy.

Authors: Janßen, Sören Erbe, Leoni S. Kneifel, Moritz et al.

Source: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10867. 15p.

Congenital myopathies: pathophysiological mechanisms and promising therapies.

Authors: Zhang, Han Chang, Mengyuan Chen, Daiyue et al.

Source: Journal of Translational Medicine. 9/2/2024, Vol. 22 Issue 1, p1-15. 15p.

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.

Authors: Zanotti S Magri F Salani S et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 609-618. Date of Electronic Publication: 2026 Mar 18.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.

Authors: Bosco, Luca Leone, Daniela Costa Comellas, Laura et al.

Source: International Journal of Molecular Sciences. Sep2022, Vol. 23 Issue 18, pN.PAG-N.PAG. 8p.

Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.

Authors: Vattemi, Gaetano Nicola Alfio Rossi, Daniela Galli, Lucia et al.

Source: European Journal of Neuroscience. Aug2022, Vol. 56 Issue 3, p4214-4223. 10p. 1 Color Photograph, 1 Chart.

Subjects: Malignant hyperthermia, Ryanodine receptors, Magnetic resonance imaging, Muscle diseases, Creatine kinase

Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients.

Authors: Ambrosini, Anna Baldessari, Danila Pozzi, Silvia et al.

Source: Orphanet Journal of Rare Diseases. 10/2/2021, Vol. 16 Issue 1, p1-14. 14p.

Congenital myopathies: clinical phenotypes and new diagnostic tools.

Authors: Cassandrini, Denise Trovato, Rosanna Rubegni, Anna et al.

Source: Italian Journal of Pediatrics. 11/15/2017, Vol. 43, p1-16. 16p.

Myopathology in times of modern imaging.

Authors: Jungbluth, H.^1,2,3

Source: Neuropathology & Applied Neurobiology. Feb2017, Vol. 43 Issue 1, p24-43. 20p.

Wernicke's Encephalopathy - 'Pushing the Envelope' of Patient's Profile: A Case Report.

Authors: Jayaprakash, B. Rao, Karthik N. Patil, Navin et al.

Source: Annals of Neurosciences. Sep2016, Vol. 23 Issue 3, p188-193. 6p. 4 Black and White Photographs.

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Authors: Tordjman, Mickael Dabaj, Ivana Laforet, Pascal et al.

Source: European Radiology. Dec2018, Vol. 28 Issue 12, p5293-5303. 11p. 2 Diagrams, 7 Charts.

Subjects: Muscle diseases, Magnetic resonance imaging, Patients, Musculoskeletal system diseases, Radiologists, Muscular dystrophy diagnosis, Algorithms, Cells, Differential diagnosis, Diagnostic imaging, Muscle rigidity, Muscular dystrophy, Scoliosis, Retrospective studies, Severity of illness index, Skeletal muscle