| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29–30 May 2015, Rochester, New York
|
Tawil, Rabi
|
|
2016
|
26 |
2 |
p. 181-186
6 p.
|
artikel
|
| 2 |
Combination of mitochondrial myopathy and biventricular hypertrabeculation/noncompaction
|
Wang, Jing
|
|
2016
|
26 |
2 |
p. 165-169
5 p.
|
artikel
|
| 3 |
3D analysis of the chest wall motion for monitoring late-onset Pompe disease patients
|
Meric, Henri
|
|
2016
|
26 |
2 |
p. 146-152
7 p.
|
artikel
|
| 4 |
Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1
|
Rudnik-Schöneborn, Sabine
|
|
2016
|
26 |
2 |
p. 132-135
4 p.
|
artikel
|
| 5 |
Editorial Board
|
|
|
2016
|
26 |
2 |
p. CO2-
1 p.
|
artikel
|
| 6 |
Erythromelalgia-like presentation of chronic acquired demyelinating polyneuropathy in a setting of past alcohol abuse
|
Chuquilin, Miguel
|
|
2016
|
26 |
2 |
p. 176-180
5 p.
|
artikel
|
| 7 |
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations
|
Natera-de Benito, D.
|
|
2016
|
26 |
2 |
p. 153-159
7 p.
|
artikel
|
| 8 |
[No title]
|
Ambegaonkar, Gautam
|
|
2016
|
26 |
2 |
p. 187-
1 p.
|
artikel
|
| 9 |
[No title]
|
Scott, Kirsten
|
|
2016
|
26 |
2 |
p. 188-
1 p.
|
artikel
|
| 10 |
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials
|
Mercuri, Eugenio
|
|
2016
|
26 |
2 |
p. 126-131
6 p.
|
artikel
|
| 11 |
Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB
|
Brady, L.
|
|
2016
|
26 |
2 |
p. 160-164
5 p.
|
artikel
|
| 12 |
Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease
|
Johnson, Erin M.
|
|
2016
|
26 |
2 |
p. 136-145
10 p.
|
artikel
|
| 13 |
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency
|
Wang, Zhaoxia
|
|
2016
|
26 |
2 |
p. 170-175
6 p.
|
artikel
|
| 14 |
Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?
|
Straub, Volker
|
|
2016
|
26 |
2 |
p. 111-125
15 p.
|
artikel
|
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