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Results 1 to 25 of 33

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Joint hypermobility as a distinctive feature in the differential diagnosis of myopathiesVOERMANS, N. C; BONNEMANN, C. G; HAMEL, B. C. J et al.Journal of neurology. 2009, Vol 256, Num 1, pp 13-27, issn 0340-5354, 15 p.Article

Muscle weakness in a 16-year-old girlMACAULAY, R. J. B; SLADKY, J. T; JAY, V et al.Pediatric neurosurgery. 1993, Vol 19, Num 2, pp 93-100, issn 1016-2291Article

Orthopaedic aspects of central core diseaseGAMBLE, J. G; RINSKY, L. A; LEE, J. H et al.Journal of bone and joint surgery. American volume. 1988, Vol 70A, Num 7, pp 1061-1066, issn 0021-9355Article

Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core diseaseTREVES, Susan; VUKCEVIC, Mirko; MUNTONI, Francesco et al.Human molecular genetics (Print). 2011, Vol 20, Num 3, pp 589-600, issn 0964-6906, 12 p.Article

Molecular mechanisms and phenotypic variation in RYRI-related congenital myopathiesHAIYAN ZHOU; JUNGBLUTH, Heinz; KINALI, Maria et al.Brain. 2007, Vol 130, pp 2024-2036, issn 0006-8950, 13 p., 8Article

Central core disease associated with scoliosis : Report of one caseMA, J.-S; MAK, S.-C; LIU, A.-M et al.Xiaoér keyi xuéhuì zázhì. 1997, Vol 38, Num 4, pp 297-299, issn 0001-6578Article

Nemaline rod and central core disease : A coexisting Z-band myopathyTHOMAS, C.Muscle & nerve. 1997, Vol 20, Num 7, pp 893-896, issn 0148-639XArticle

The structural organization of the human skeletal muscle ryanodine receptor (RYR1) genePHILLIPS, M. S; FUJII, J; KHANNA, V. K et al.Genomics (San Diego, Calif.). 1996, Vol 34, Num 1, pp 24-41, issn 0888-7543Article

Scoliosis associated with central core diseaseNAGAI, T; TSUCHIYA, Y; MARUYAMA, A et al.Brain & development (Tokyo. 1979). 1994, Vol 16, Num 2, pp 150-152, issn 0387-7604Article

Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubulesHAYASHI, K; MILLER, R. G; BROWNELL, A. K. W et al.Muscle & nerve. 1989, Vol 12, Num 2, pp 95-102, issn 0148-639X, 8 p.Article

Une posture atypique chez le sujet âgé : la camptocormie = Atypical attitude in old age: camptocormiaLLESHI, Enver; MORISOD, Jérome; COUTAZ, Martial et al.La Revue de gériatrie. 2002, Vol 27, Num 9, pp 764-765, issn 0397-7927, 2 p.Article

Caesarean section in a complicated case of central core diseaseFOSTER, R. N; BOOTHROYD, K. P.Anaesthesia. 2008, Vol 63, Num 5, pp 544-547, issn 0003-2409, 4 p.Article

Central core disease due to recessive mutations in RYR1 gene : Is it more common than described?KOSSUGUE, Patricia M; PAIM, Julia F; NAVARRO, Monica M et al.Muscle & nerve. 2007, Vol 35, Num 5, pp 670-674, issn 0148-639X, 5 p.Article

Malignant hyperthermia and central core disease causative mutations in Swedish patientsBROMAN, M; ISLANDER, G; MULLER, C. R et al.Acta anaesthesiologica scandinavica. 2007, Vol 51, Num 1, pp 50-53, issn 0001-5172, 4 p.Article

Sarcoplasmic reticulum : The dynamic calcium governor of muscleROSSI, Ann E; DIRKSEN, Robert T.Muscle & nerve. 2006, Vol 33, Num 6, pp 715-731, issn 0148-639X, 17 p.Article

Pilot trial of salbutamol in central core and multi-minicore diseasesMESSINA, S; HARTLEY, L; MAIN, M et al.Neuropediatrics. 2004, Vol 35, Num 5, pp 262-266, issn 0174-304X, 5 p.Article

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 geneFERREIRO, Ana; MONNIER, Nicole; LEMAINQUE, Arnaud et al.Annals of neurology. 2002, Vol 51, Num 6, pp 750-759, issn 0364-5134Article

Expression, localization and functional divergence of αB-crystallin and heat shock protein 27 in core myopathies and neurogenic atrophyFISCHER, Dirk; MATTEN, Jens; REIMANN, Jens et al.Acta neuropathologica. 2002, Vol 104, Num 3, pp 297-304, issn 0001-6322Article

Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one familyTOJO, M; OZAWA, M; NONAKA, I et al.Brain & development (Tokyo. 1979). 2000, Vol 22, Num 4, pp 262-264, issn 0387-7604Article

Expression of cytoskeleton proteins in central core diseaseVITA, G; MIGLIORATO, A; BARADELLO, A et al.Journal of the neurological sciences. 1994, Vol 124, Num 1, pp 71-76, issn 0022-510XArticle

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19KAUSCH, K; LEHMANN-HORN, F; JANKA, M et al.Genomics (San Diego, Calif.). 1991, Vol 10, Num 3, pp 765-769, issn 0888-7543, 5 p.Article

Central core disease is due to RYRI mutations in more than 90% of patientsSHIWEN WU; IBARRA M, Carlos A; MALICDAN, May Christine V et al.Brain. 2006, Vol 129, pp 1470-1480, issn 0006-8950, 11 p., 6Article

Syncoilin upregulation in muscle of patients with neuromuscular diseaseBROWN, Susan C; TORELLI, Silvia; UGO, Isabella et al.Muscle & nerve. 2005, Vol 32, Num 6, pp 715-725, issn 0148-639X, 11 p.Article

Central core diseaseGULATI, Sheffali; SALHOTRA, Amandeep; SHARMA, M. C et al.Indian journal of pediatrics. 2004, Vol 71, Num 11, pp 1021-1024, issn 0019-5456, 4 p.Article

Central core disease: clinical, pathological, and genetic featuresQUINLIVAN, R. M; MULLER, C. R; DAVIS, M et al.Archives of disease in childhood. 2003, Vol 88, Num 12, pp 1051-1055, issn 0003-9888, 5 p.Article

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