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début tardif de la maladieSynonyme(s)later onset late-onset |
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Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese
Lee HH, Wong S, Sheng B, et al.
Clinical genetics, 2020
Late-onset generalized myasthenia gravis: clinical features, treatment, and outcome
Yildiz Celik S, Durmus H, Yilmaz V, et al.
Acta neurologica Belgica, 2019
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
Owen D, Töpf A, Preethish-Kumar V, et al.
American Journal of Medical Genetics Part A, 2018
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease
Hikiami R, Yamashita H, Koita N, et al.
Journal of human genetics, 2018, 63, 1, p 89
A novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia
Chéraud C, Froissart R, Lannes B, et al.
Muscle & Nerve, 2018, 57, 1, p 157
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes
Harris E, Marini Bettolo C, Töpf A, et al.
Neuromuscular disorders : NMD, 2018, 28, 1, p 48
Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report
Maeda MY, Hashimoto TY, Oliviera Neto IC, et al.
Brazilian Journal of Otorhinolaryngology, 2017, 83, 2, p 235
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance
Uruha A, Benveniste O
Current opinion in neurology, 2017, 30, 5, p 457
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report
Mori M, Bailey LA, Estrada J, et al.
JIMD reports, 2017, 31, p 79
Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid alpha-Glucosidase in Pompe Patients Co-administered with Alglucosidase alpha
Kishnani P, Tarnopolsky M, Roberts M, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2017, 25, 5, p 1199
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
Byrne BJ, Geberhiwot T, Barshop BA, et al.
Orphanet journal of rare diseases, 2017, 12, 1
Long-term whole-body vibration training in two late-onset Pompe disease patients
Montagnese F, Thiele S, Wenninger S, et al.
Neurological sciences, 2016, 37, 8, p 1357
Zoom sur...la maladie de Steinert
Urtizberea JA, Myoinfo (AFM-Téléthon)
Zoom sur ..., Savoir & Comprendre, 2016, 107 p.
Progrès dans la classification clinique de la dystrophie myotonique de type 1
Dogan C, De Antonio M, Hamroun D, et al.
Les Cahiers de Myologie, 2016, 13, p.102-104
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
Auer-Grumbach M, Toegel S, Schabhüttl M, et al.
American journal of human genetics, 2016, 99, 3, p 607
Death from supine asphyxia in late onset pompe disease: Two patients
Kansagra S, Austin S, DeArmey S, et al.
American Journal of Medical Genetics Part A, 2016, 170, 7, p 1928
Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations
Liu XY, Jin M, Wang ZQ, et al.
Chinese medical journal, 2016, 129, 12, p 1425
Myasthenia gravis: a clinical-immunological update
Binks S, Vincent A, Palace J
Journal of neurology, 2016, 263, 4, p 826
Late presentations of congenital myasthenic syndromes - how many do we miss?
Garg N, Yiannikas C, Hardy TA, et al.
Muscle & Nerve, 2016, 54, 4, p 721
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1
Akman HO, Aykit Y, Amuk OC, et al.
Neuromuscular disorders : NMD, 2016, 26, 1, p 16
3D analysis of the chest wall motion for monitoring late-onset Pompe disease patients
Meric H, Falaize L, Pradon D, et al.
Neuromuscular disorders : NMD, 2016, 26, 2, p 146
Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease
Johnson EM, Roberts M, Mozaffar T, et al.
Neuromuscular disorders : NMD, 2016, 26, 2, p 136
