| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A mitochondrial tRNALys gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes
|
Campos, Yolanda
|
|
2000
|
10 |
7 |
p. 493-496
4 p.
|
artikel
|
| 2 |
A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNAGln anticodon loop
|
Dey, Runu
|
|
2000
|
10 |
7 |
p. 488-492
5 p.
|
artikel
|
| 3 |
Blue Books of Practical Neurology: Muscle Diseases. A.H.V. Schapiro, R.C. Griggs, editors. Butterworth Heinemann, 408 pages, 1999, ISBN 07506 670852
|
Petty, Richard K.H
|
|
2000
|
10 |
7 |
p. 539-
1 p.
|
artikel
|
| 4 |
Diagnostic guidelines for hereditary neuralgic amyotrophy or heredofamilial neuritis with brachial plexus predilection
|
Kuhlenbäumer, Gregor
|
|
2000
|
10 |
7 |
p. 515-517
3 p.
|
artikel
|
| 5 |
Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity
|
Mostacciuolo, M.L
|
|
2000
|
10 |
7 |
p. 497-502
6 p.
|
artikel
|
| 6 |
Hyperparathyroidism in a patient with proximal myotonic myopathy (PROMM)
|
Schneider, Christiane
|
|
2000
|
10 |
7 |
p. 481-483
3 p.
|
artikel
|
| 7 |
Lockhart Clarke (1817–1880): his role in the early history of muscular dystrophy
|
Emery, Alan E.H
|
|
2000
|
10 |
7 |
p. 530-533
4 p.
|
artikel
|
| 8 |
Muscular transverse relaxation time measurement by magnetic resonance imaging at 4 Tesla in normal and dystrophic dy/dy and dy2j /dy2j mice
|
Tardif-de Géry, Sabine
|
|
2000
|
10 |
7 |
p. 507-513
7 p.
|
artikel
|
| 9 |
Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient
|
Abe, Mayumi
|
|
2000
|
10 |
7 |
p. 472-477
6 p.
|
artikel
|
| 10 |
72nd ENMC International Workshop: Myotubular Myopathy 1–3 October 1999, Hilversum, The Netherlands
|
Wallgren-Pettersson, C.
|
|
2000
|
10 |
7 |
p. 525-529
5 p.
|
artikel
|
| 11 |
Perineurial cell hyperplasia in early-onset polyneuropathy with multiple cranial neuropathies
|
Wolfe, Gil I
|
|
2000
|
10 |
7 |
p. 503-506
4 p.
|
artikel
|
| 12 |
Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families
|
Ausems, Margreet G.E.M
|
|
2000
|
10 |
7 |
p. 467-471
5 p.
|
artikel
|
| 13 |
Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases
|
Poulton, Joanna
|
|
2000
|
10 |
7 |
p. 484-487
4 p.
|
artikel
|
| 14 |
Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2)
|
Kress, Wolfram
|
|
2000
|
10 |
7 |
p. 478-480
3 p.
|
artikel
|
| 15 |
Sleep Disorders and Neurological Disease Antonio Culebras, editor, Marcel Dekker, New York, Basel, 2000, 422 pages, Price £116.26, ISBN 0-8247-7605-4
|
Zaiwalla, Zenobia
|
|
2000
|
10 |
7 |
p. 539-540
2 p.
|
artikel
|
| 16 |
71st ENMC International Workshop, 6th Workshop of the European Charcot–Marie–Tooth Disease Consortium: Hereditary recurrent focal neuropathies, 24–25 September 1999, Soestduinen, The Netherlands
|
Stögbauer, Florian
|
|
2000
|
10 |
7 |
p. 518-524
7 p.
|
artikel
|
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