nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles
|
Furuta, Mitsuru |
|
2016 |
26 |
9 |
p. 593-597 5 p. |
artikel |
2 |
Anna Fidzianska (1930–2015)
|
Kaminska, Anna |
|
2016 |
26 |
9 |
p. 634-635 2 p. |
artikel |
3 |
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy
|
Mercuri, Eugenio |
|
2016 |
26 |
9 |
p. 576-583 8 p. |
artikel |
4 |
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
|
Pedurupillay, Christeen Ramane J. |
|
2016 |
26 |
9 |
p. 570-575 6 p. |
artikel |
5 |
Commonality amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy
|
Fuller, Heidi R. |
|
2016 |
26 |
9 |
p. 560-569 10 p. |
artikel |
6 |
Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III
|
Decostre, Valérie |
|
2016 |
26 |
9 |
p. 584-592 9 p. |
artikel |
7 |
Editorial Board
|
|
|
2016 |
26 |
9 |
p. CO2- 1 p. |
artikel |
8 |
Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype–genotype correlation
|
Takayama, Kazuko |
|
2016 |
26 |
9 |
p. 604-609 6 p. |
artikel |
9 |
Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene
|
Ferbert, A. |
|
2016 |
26 |
9 |
p. 598-603 6 p. |
artikel |
10 |
Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease
|
Perniconi, Barbara |
|
2016 |
26 |
9 |
p. 610-613 4 p. |
artikel |
11 |
Normalization of sonographical multifocal nerve enlargements in a MADSAM patient following a good clinical response to intravenous immunoglobulin
|
Tanaka, Kanta |
|
2016 |
26 |
9 |
p. 619-623 5 p. |
artikel |
12 |
[No title]
|
Ambegaonkar, Gautam |
|
2016 |
26 |
9 |
p. 636- 1 p. |
artikel |
13 |
Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy
|
Burns, Joseph K. |
|
2016 |
26 |
9 |
p. 551-559 9 p. |
artikel |
14 |
Sport activity in Charcot–Marie–Tooth disease: A case study of a Paralympic swimmer
|
Vita, Giuseppe |
|
2016 |
26 |
9 |
p. 614-618 5 p. |
artikel |
15 |
217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016
|
Jungbluth, Heinz |
|
2016 |
26 |
9 |
p. 624-633 10 p. |
artikel |