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début tardif de la maladieSynonyme(s)later onset late-onset |
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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, Epub, 8 p.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. 89-92MEGF10 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, 2017, Epub, 5 p.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, p. 144Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance.
Uruha A, Benveniste O
Current opinion in neurology, 2017, Epub, 7 p.Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid ?-Glucosidase in Pompe Patients Co-administered with Alglucosidase ?.
Kishnani P, Tarnopolsky M, Roberts M, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2017, 25, 5, p. 1199-1208A 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, 2017, Epub, 14 p.Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification.
De Antonio M, Dogan C, Hamroun D, et al.
Revue neurologique, 2016, Epub, p. 572-580Rare 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. 607-23Long-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 1357Zoom sur...la maladie de Steinert
Urtizberea JA, Myoinfo (AFM-Téléthon)
Zoom sur ..., Savoir & Comprendre, 2016, 107 p.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. 1425-1431Progrès 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.102-104Death 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, Epub, 2 p.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, 2016, Epub, 5 p.Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy.
Gruhn KM, Heyer CM, Guttsches AK, et al.
Molecular genetics and metabolism reports, 2016, 3, p. 58-64Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel
Tarnopolsky M, Katzberg H, Petrof BJ, et al.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2016, Epub, 14 p.Late presentations of congenital myasthenic syndromes - how many do we miss?
Garg N, Yiannikas C, Hardy TA, et al.
Muscle & Nerve, 2016, Epub, 22 p.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.136-145Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
Levesque S, Auray-Blais C, Gravel E, et al.
Orphanet journal of rare diseases, 2016, 11, 8, 10 p.Myasthenia gravis: a clinical-immunological update.
Binks S, Vincent A, Palace J
Journal of neurology, 2015, Epub, 9 p.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, 2015, Epub, 8 p.
