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Neuromuscular Disorders
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Volume 29, Issue 3
Pages 167-260 (March 2019)
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1. Editorial Board
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Tác giả
2. Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, o
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Tác giả
Loren D.M. Pena, Richard J. Barohn, Barry J. Byrne, Claude Desnuelle, ... Ans T. van der Ploeg
3. Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy
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Cinthia Amiñoso, María Gordillo-Marañón, Jaime Hernández, Jesús Solera
4. Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease
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José Guevara-Campos, Lucía González-Guevara, Omar Cauli
5. Respiratory dysfunction in myotonic dystrophy type 1: A systematic review
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A.M. Hawkins, C.L. Hawkins, K. Abdul Razak, T.K. Khoo, ... R.V. Jackson
6. 6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR)
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Gian Luca Vita, Claudia Stancanelli, Luca Gentile, Costanza Barcellona, ... Anna Mazzeo
7. Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy
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Nitamarie Vorster, Kerry Evans, Nada Murphy, Maina Kava, ... Jenny Downs
8. Various effects of AAV9-mediated βARKct gene therapy on the heart in dystrophin-deficient (mdx) mice and δ-sarcoglycan-deficient (Sgcd-/-) mice
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Ralf Bauer, Helene Enns, Andreas Jungmann, Barbara Leuchs, ... Oliver J. Müller
9. Mitochondrial DNA depletion in sporadic inclusion body myositis
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Padmanabh S. Bhatt, Charalampos Tzoulis, Novin Balafkan, Hrvoje Miletic, ... Laurence A. Bindoff
10. Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1
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Aurelio Hernandez-Lain, Diana Cantero, Ana Camacho-Salas, Oscar Toldos, ... Cristina Dominguez-Gonzalez
11. 236th ENMC International Workshop Bone protective therapy in Duchenne muscular dystrophy: Determining the feasibility and standards of clinical trials Hoofddorp, The Netherlands, 1–3 June 2018
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Sze Choong Wong, Volker Straub, Leanne M. Ward, Ros Quinlivan, ... M. Zacharin
