Information de reference pour ce titreAccession Number: | 00054821-201802000-00040.
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Author: | Alonso-Jimenez, A. 1; Ramon, C. 2; Dols-Icardo, O. 3,4; Roig, C. 1; Gallardo, E. 1,5; Clarimon, J. 3,4; Nunez-Peralta, C. 6; Diaz-Manera, J. *,1,5
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Institution: | (1)Neuromuscular Disorders Unit Neurology Department Hospital de la Santa Creu I Sant Pau Universitat Autonoma de Barcelona Barcelona Spain (2)Neurology Department Hospital Universitario Central de Asturias Oviedo Spain (3)Memory Unit Neurology Department and Sant Pau Biomedical Research Institute Hospital de la Santa Creu i Sant Pau Universitat Autonoma de Barcelona Barcelona Spain (4)Centro de Investigacion Biomedica en Red sobre Enfermedades Neurodegenerativas (CIBERNED) Madrid Spain (5)Centro de Investigacion Basica en Red en Enfermedades Raras (CIBERER) Madrid Spain (6)Radiology Department Hospital de la Santa Creu i Sant Pau Barcelona Spain
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Title: | Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome.[Letter]
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Source: | European Journal of Neurology. 25(2):e25-e26, February 2018.
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Author Keywords: | corpus callosum agenesis; hyperCKemia; miosis; myopathy; Stormorken.
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References: | 1. Palmer EE, Mowat D. Agenesis of the corpus callosum: a clinical approach to diagnosis. Am J Med Genet C Semin Med Genet 2014; 166: 184-197.
2. Misceo D, Holmgren A, Louch WE, et al. A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat 2014; 35: 556-564.
3. Lacruz RS, Feske S. Diseases caused by mutations in ORAI1 and STIM1. Ann N Y Acad Sci 2015; 1356: 45-79.
4. Harris E, Burki U, Marini-Bettolo C, et al. Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. Neuromuscul Disord 2017; 27: 861-872.
5. Sutherland DJ, Pujic Z, Goodhill GJ. Calcium signaling in axon guidance. Trends Neurosci 2014; 37: 424-432.
6. Paul LK, Brown WS, Adolphs R, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci 2007; 8: 287-299.
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Language: | English.
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Document Type: | Letters to the Editor.
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Journal Subset: | Clinical Medicine. Life & Biomedical Sciences.
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ISSN: | 1351-5101
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NLM Journal Code: | daf, 9506311
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DOI Number: | https://dx.doi.org/10.1111/ene.1...- ouverture dans une nouvelle fenêtre
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Annotation(s) | |