Digitale Bibliotheek
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                             15 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation Bastos, Paulo

30 4 p. 331-335
artikel
2 Beyond ambulation: Measuring physical activity in youth with Duchenne muscular dystrophy Killian, Mary

30 4 p. 277-282
artikel
3 Book review Sarkozy, Anna

30 4 p. 351
artikel
4 Editorial Board
30 4 p. IFC
artikel
5 Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients Mroczek, Magdalena

30 4 p. 310-314
artikel
6 Exploring the efficacy of the expiratory muscle strength trainer to improve swallowing in inclusion body myositis: A pilot study Mohannak, Nika

30 4 p. 294-300
artikel
7 Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms Banerji, Christopher R.S.

30 4 p. 315-328
artikel
8 No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency Andersen, A.G.

30 4 p. 340-345
artikel
9 Obstructive sleep apnea in late-onset Pompe disease treated by enzyme replacement therapy Bhui, Raj

30 4 p. 329-330
artikel
10 Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant Joshi, Pushpa Raj

30 4 p. 346-350
artikel
11 Randomisation versus prioritisation in a managed access programme: Lessons from spinal muscular atrophy Servais, Laurent

30 4 p. 267-269
artikel
12 Screening for early symptoms of respiratory involvement in myotonic dystrophy type 1 using the Respicheck questionnaire De Mattia, Elisa

30 4 p. 301-309
artikel
13 Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene Bonanno, Carmen

30 4 p. 336-339
artikel
14 Strength-training effectively alleviates skeletal muscle impairments in myotonic dystrophy type 1 Roussel, Marie-Pier

30 4 p. 283-293
artikel
15 The endocrine manifestations of spinal muscular atrophy, a real-life observational study Brener, Avivit

30 4 p. 270-276
artikel
                             15 gevonden resultaten
 
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