Search Results - "Codemo V"

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.

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.

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.

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.

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.

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

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

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

Authors: Fusto, Aurora Cassandrini, Denise Fiorillo, Chiara et al.

Source: Acta Neuropathologica Communications. 4/15/2022, Vol. 10 Issue 1, p1-20. 20p.

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.

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.

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.

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

Life-threatening complications of hyperemesis gravidarum.

Authors: Popa, Stefan L. Barsan, Maria Caziuc, Alexandra et al.

Source: Experimental & Therapeutic Medicine. Jun2021, Vol. 21 Issue 6, pN.PAG-N.PAG. 1p.

DNM2 mutations in Chinese Han patients with centronuclear myopathy.

Authors: Lin, Pengfei Liu, Xinhong Zhao, Dandan et al.

Source: Neurological Sciences. Jun2016, Vol. 37 Issue 6, p995-998. 4p.

Subjects: Muscle diseases, Congenital disorders, Pathology, Human abnormalities, Medical records

Geographic Terms: China

Hyperemesis Gravidarum and Cerebral Electrophysiology Determination of Cerebral Localization through Electroencephalography Signal Processing.

Alternate Title: Hiperemezis Gravidarum ve Serebral Elektrofizyoloji: Elektroensefalografi Sinyal İşleme Yöntemi ile Serebral Lokalizasyon Belirleme.

Authors: Ekmekçi, Hakan Ahmet Yılmaz, Arzu Setenay Öziç, Muhammet Üsame et al.

Source: Turkish Journal of Neurology / Türk Nöroloji Dergisi. Jun2016, Vol. 22 Issue 2, p73-79. 7p.

"Spokes of Wheel" in Muscle Biopsy.

Authors: Angel Buitrago LF Lidov HGW Ghosh PS

Source: Journal of clinical neuromuscular disease [J Clin Neuromuscul Dis] 2022 Mar 01; Vol. 23 (3), pp. 160-161.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 100887391 Publication Model: Print Cited Medium: Internet ISSN: 1537-1611 (Electronic) Linking ISSN: 15220443 NLM ISO Abbreviation: J Clin Neuromuscul Dis Subsets: MEDLINE

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.

Authors: Biancalana, Valérie Romero, Norma B. Thuestad, Inger Johanne et al.

Source: Acta Neuropathologica Communications. 9/12/2018, Vol. 6 Issue 1, pN.PAG-N.PAG. 1p.

Commentary.

Authors: Manzanares, William¹ wmanzanares@adinet.com.uy

Source: Journal of Neurosciences in Rural Practice. Jan-Mar2013, Vol. 4 Issue 1, p43-44. 2p.