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Characterization of congenital myopathies at a Korean neuromuscular center
Park YE, Shin JH, Kim HS, et al.
Muscle & Nerve, 2018
Sarcomere Dysfunction in Nemaline Myopathy
de Winter JM, Ottenheijm CAC
Journal of Neuromuscular Diseases, 2017, 4, 2, p 99
Congenital myopathies: not only a paediatric topic
Jungbluth H, Voermans NC
Current opinion in neurology, 2016, 29, 5, p 642
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies
Oliveira J, Gonçalves A, Taipa R, et al.
Journal of human genetics, 2016, 61, 6, p 497
Novel myosin-based therapies for congenital cardiac and skeletal myopathies
Ochala J, Sun YB
Journal of medical genetics, 2016, 53, 10, p 651
Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy
Evans JM, Cox ML, Huska J, et al.
Mammalian genome : official journal of the International Mammalian Genome Society, 2016, 27, 9-10, p 495
Nemaline myopathies: State of the art
Malfatti E, Romero NB
Revue neurologique, 2016, 172, 10, p 614
Myopathies à bâtonnets : les formes liées à la nébuline ont un phénotype très variable.
Urtizberea JA
2015
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy
Malfatti E, Monges S, Lehtokari VL, et al.
European journal of medical genetics, 2015, 58, 10, p 556
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
Todd EJ, Yau KS, Ong R, et al.
Orphanet journal of rare diseases, 2015, 10
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Malfatti E, Lehtokari VL, Böhm J, et al.
Acta neuropathologica communications, 2014, 2, 44, 14 p
Myopathies congénitales
Quijano-Roy S, Rivier F, Romero NB
Lettre du neurologue (La), 2014, 18, 7, p 263
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy
Ottenheijm CAC, Buck D, de Winter JM, et al.
Brain, 2013, 136, 6, p. 1718-1731
Caractérisation de quatre modèles murins reproduisant des formes humaines légères et sévères de myopathie némaline : une étude anatomique, métabolique et fonctionnelle par spectrométrie et imagerie de résonance magnétique
Gineste C
Thèse de Doctorat, 2013, 233 p
Recent advances in nemaline myopathy
Romero NB, Sandaradura SA, Clarke NF
Current opinion in neurology, 2013, 26, 5, p 519
Congenital myopathies
Romero NB, Clarke NF
Handbook of Clinical Neurology (Pediatric Neurology), 2013, 113, p 1321
Mutations in the nebulin gene in a child with nemaline (rod) myopathy
Kapoor S, Singh A, Lehtokari VL, et al.
Indian journal of pediatrics, 2013, 80, 8, p 691
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations
de Winter JM, Buck D, Hidalgo C, et al.
Journal of medical genetics, 2013, 50, 6, p. 383-392
Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes
Kiiski K, Laari L, Lehtokari VL, et al.
Neuromuscular disorders : NMD, 2013, 23, 1, p 56
Congenital myopathies - Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
Maggi L, Scoto M, Cirak S, et al.
Neuromuscular disorders : NMD, 2013, 23, 3, p. 195-205
An integrated diagnosis strategy for congenital myopathies
Böhm J, Vasli N, Malfatti E, et al.
PLoS ONE, 2013, 8, 6
Congenital myopathies : an update
Nance JR, Dowling JJ, Gibbs EM, et al.
Current neurology and neuroscience reports, 2012, 12, 2, p. 165-174
neb : a zebrafish model of nemaline myopathy due to nebulin mutation
Telfer WR, Nelson DD, Waugh T, et al.
Disease models and mechanisms, 2012, 5, 3, p. 389-396
