nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1
|
Cardani, R. |
|
2008 |
18 |
8 |
p. 641-645 5 p. |
artikel |
2 |
Cardiac assessment of limb–girdle muscular dystrophy 2I patients: An echography, Holter ECG and magnetic resonance imaging study
|
Wahbi, Karim |
|
2008 |
18 |
8 |
p. 650-655 6 p. |
artikel |
3 |
Different clinical and magnetic resonance imaging features between Charcot–Marie–Tooth disease type 1A and 2A
|
Chung, K.W. |
|
2008 |
18 |
8 |
p. 610-618 9 p. |
artikel |
4 |
Distal lipid storage myopathy due to PNPLA2 mutation
|
Ohkuma, Aya |
|
2008 |
18 |
8 |
p. 671-674 4 p. |
artikel |
5 |
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
|
Claeys, K.G. |
|
2008 |
18 |
8 |
p. 656-666 11 p. |
artikel |
6 |
Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders
|
Peat, Rachel A. |
|
2008 |
18 |
8 |
p. 606-609 4 p. |
artikel |
7 |
Expanded HSAN4 phenotype associated with two novel mutations in NTRK1
|
Wieczorek, Stefan |
|
2008 |
18 |
8 |
p. 681-684 4 p. |
artikel |
8 |
Factors that influence health-related quality of life in Australian adults with Charcot–Marie–Tooth disease
|
Redmond, Anthony C. |
|
2008 |
18 |
8 |
p. 619-625 7 p. |
artikel |
9 |
Forthcoming meetings
|
|
|
2008 |
18 |
8 |
p. III- 1 p. |
artikel |
10 |
Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2
|
Tieleman, Alide A. |
|
2008 |
18 |
8 |
p. 646-649 4 p. |
artikel |
11 |
IFC: Ed Board
|
|
|
2008 |
18 |
8 |
p. IFC- 1 p. |
artikel |
12 |
In vivo delivery of naked antisense oligos in aged mdx mice: Analysis of dystrophin restoration in skeletal and cardiac muscle
|
Vitiello, Libero |
|
2008 |
18 |
8 |
p. 597-605 9 p. |
artikel |
13 |
MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients
|
Todorova, Albena |
|
2008 |
18 |
8 |
p. 667-670 4 p. |
artikel |
14 |
Novel chloride channel mutations leading to mild myotonia among Chinese
|
Burgunder, Jean-Marc |
|
2008 |
18 |
8 |
p. 633-640 8 p. |
artikel |
15 |
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations
|
Milone, Margherita |
|
2008 |
18 |
8 |
p. 626-632 7 p. |
artikel |
16 |
Two cases of thymoma-associated myasthenia gravis without antibodies to the acetylcholine receptor
|
Maggi, Lorenzo |
|
2008 |
18 |
8 |
p. 678-680 3 p. |
artikel |
17 |
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate
|
Vajsar, Jiri |
|
2008 |
18 |
8 |
p. 675-677 3 p. |
artikel |
18 |
WMS online application form
|
|
|
2008 |
18 |
8 |
p. I- 1 p. |
artikel |
19 |
WMS - 13th International Congress
|
|
|
2008 |
18 |
8 |
p. II- 1 p. |
artikel |