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ophtalmoplégieSynonyme(s)ophthalmoplegy ;paralysie oculomotrice ;paralysie oculo-motrice ;oculomotor palsy ;oculo-motor palsy ophthalmoplegiaVoir aussi |
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Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA
Hedermann G, Dahlqvist JR, Lokken N, et al.
Neuromuscular disorders : NMD, 2018
False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature
Rajput R, Sachdev A, Din N, et al.
Orbit (Amsterdam, Netherlands), 2018, 37, 5, p 385
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Schartner V, Romero NB, Donkervoort S, et al.
Acta neuropathologica, 2017, 133, 4, p 517
Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A)
Posa A, Emmer A, Kornhuber ME
Clinical neurology and neurosurgery, 2017, 155, p 20
Revisiting mitochondrial ocular myopathies: a study from the Italian Network
Orsucci D, Angelini C, Bertini E, et al.
Journal of neurology, 2017, 264, 8, p 1777
Pattern of ocular involvement in myasthenia gravis with MuSK antibodies
Evoli A, Alboini PE, Iorio R, et al.
Journal of neurology, neurosurgery, and psychiatry, 2017, 88, 9, p 761
Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2
Hernandez-Lain A, Esteban-Perez J, Montenegro DC, et al.
Muscle & Nerve, 2017, 55, 2, p E8
Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients
Ahola S, Auranen M, Isohanni P, et al.
EMBO Molecular Medicine, 2016, 8, 11, p 1234
Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience
Luigetti M, Sauchelli D, Primiano G, et al.
European journal of neurology, 2016, 23, 6, p 1020
The African-387 C>T TGFB1 variant is functional and associates with the ophthalmoplegic complication in juvenile myasthenia gravis
Nel M, Buys JM, Rautenbach R, et al.
Journal of human genetics, 2016, 61, 4, p 307
The phenotypic spectrum of fifty Czech m.3243A>G carriers
Dvorakova V, Kolarova H, Magner M, et al.
Molecular genetics and metabolism, 2016, 118, 4, p 288
Models of neuromuscular disease across the lifespan : Actes de colloque - Muscle Study Group Annual Meeting, Snowbird Ski & Summer Resort, Snowbird, UT, September 24-26, 2016
Collectif
Muscle & Nerve, 2016, 54, S1, p S5
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome
O'Grady GL, Verschuuren C, Yuen M, et al.
Neurology, 2016, 87, 14, p 1442
Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice
Durmus H, Ayhan Ö, Cirak S, et al.
Neurology, 2016, 87, 8, p 799
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up
Natera-de Benito D, Dominguez-Carral J, Muelas N, et al.
Neuromuscular disorders : NMD, 2016, 26, 11, p 789
Correcting myogenic ptosis accompanying extraocular muscle weakness: The "Bobby Pin" procedure
Vemuri S, Christianson MD, Demirci H
Orbit (Amsterdam, Netherlands), 2016, 35, 5, p 267
Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.
Cabrera-Serrano M, Fabian VA, Boutilier J, et al.
Clinical genetics, 2015, 88, 6, p 573
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations
Tajsharghi H, Hammans S, Lindberg C, et al.
European journal of human genetics, 2014, 22, 6, p. 801-808
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability
Ronchi D, Di Fonzo A, Lin W, et al.
American journal of human genetics (The), 2013, 92, 2, p. 293-300
Diagnosis of mitochondrial myopathies
Milone M, Wong LJ
Molecular genetics and metabolism, 2013, 110, 1-2, p. 35-41
Cognitive dysfunction in mitochondrial disorders
Finsterer J
Acta neurologica Scandinavica, 2012, 126, 1, p. 1-11
Acetylcholine receptor antibodies in patients with genetic myopathies: Clinical and biological significance
Lane RJM, Roncaroli F, Charles P, et al.
Neuromuscular disorders : NMD, 2012, 22, 2, p. 122-128
