| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen
|
Pepe, G
|
|
1999
|
9 |
4 |
p. 264-271
8 p.
|
artikel
|
| 2 |
A protein truncation test for Emery–Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations
|
de Koning Gans, Pia A.M
|
|
1999
|
9 |
4 |
p. 247-250
4 p.
|
artikel
|
| 3 |
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22
|
Simonati, A
|
|
1999
|
9 |
4 |
p. 257-261
5 p.
|
artikel
|
| 4 |
Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient
|
Belpaire-Dethiou, M.-Cl
|
|
1999
|
9 |
4 |
p. 251-256
6 p.
|
artikel
|
| 5 |
Dysfunction of sensory nerves during attacks of hypokalemic periodic paralysis
|
Inshasi, J.S
|
|
1999
|
9 |
4 |
p. 227-231
5 p.
|
artikel
|
| 6 |
Germline mosaicism of MPZ Gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis
|
Takashima, Hiroshi
|
|
1999
|
9 |
4 |
p. 232-238
7 p.
|
artikel
|
| 7 |
Immunolocalization of tumor necrosis factor-alpha and its receptors in inflammatory myopathies 1 This paper was presented at the 50th Annual Meeting of the American Academy of Neurology, Minneapolis, MN, USA, April 1998. 1
|
De Bleecker, Jan L
|
|
1999
|
9 |
4 |
p. 239-246
8 p.
|
artikel
|
| 8 |
Muscle ultrasound in the assessment of suspected neuromuscular disease in childhood
|
Zuberi, S.M
|
|
1999
|
9 |
4 |
p. 203-207
5 p.
|
artikel
|
| 9 |
Myasthenia gravis and peripheral neuropathy in an amazon indigenous female
|
Dias-Tosta, EIza
|
|
1999
|
9 |
4 |
p. 262-263
2 p.
|
artikel
|
| 10 |
Myopathy with trabecular muscle fibers
|
Weller, Boaz
|
|
1999
|
9 |
4 |
p. 208-214
7 p.
|
artikel
|
| 11 |
Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients
|
Gennarelli, M
|
|
1999
|
9 |
4 |
p. 215-219
5 p.
|
artikel
|
| 12 |
59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17–19 April 1998, Soestduinen, The Netherlands
|
Zerres, Klaus
|
|
1999
|
9 |
4 |
p. 272-278
7 p.
|
artikel
|
| 13 |
4th Workshop of the European CMT-Consortium – 62nd ENMC International Workshop: Rare forms of Charcot-Marie-Tooth disease and related disorders. 16–18 October 1998, Soestduinen, The Netherlands
|
Martin, Jean-Jacques
|
|
1999
|
9 |
4 |
p. 279-287
9 p.
|
artikel
|
| 14 |
Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy
|
Hattori, Noriaki
|
|
1999
|
9 |
4 |
p. 220-226
7 p.
|
artikel
|
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