| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene
|
Lehtokari, Vilma-Lotta
|
|
2018
|
28 |
4 |
p. 323-326
|
artikel
|
| 2 |
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up
|
Durmus, Hacer
|
|
2018
|
28 |
4 |
p. 315-322
|
artikel
|
| 3 |
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant
|
Bacalhau, Mafalda
|
|
2018
|
28 |
4 |
p. 350-360
|
artikel
|
| 4 |
Editorial Board
|
|
|
2018
|
28 |
4 |
p. CO2
|
artikel
|
| 5 |
Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation
|
Alavi, Afagh
|
|
2018
|
28 |
4 |
p. 303-314
|
artikel
|
| 6 |
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)
|
Desikan, Mahalekshmi
|
|
2018
|
28 |
4 |
p. 346-349
|
artikel
|
| 7 |
Inclusion body myositis and human immunodeficiency virus type 1: A new case report and literature review
|
Couture, Priscille
|
|
2018
|
28 |
4 |
p. 334-338
|
artikel
|
| 8 |
Interatrial block to predict atrial fibrillation in myotonic dystrophy type 1
|
Russo, Vincenzo
|
|
2018
|
28 |
4 |
p. 327-333
|
artikel
|
| 9 |
Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants
|
Finsterer, Josef
|
|
2018
|
28 |
4 |
p. 373-374
|
artikel
|
| 10 |
Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants – Response
|
Scarpelli, Mauro
|
|
2018
|
28 |
4 |
p. 374-375
|
artikel
|
| 11 |
22nd World Muscle Society Congress Saint Malo 2017
|
Miller, Jane
|
|
2018
|
28 |
4 |
p. 377-383
|
artikel
|
| 12 |
Normalization of connexin 43 protein levels prevents cellular and functional signs of dystrophic cardiomyopathy in mice
|
Gonzalez, J. Patrick
|
|
2018
|
28 |
4 |
p. 361-372
|
artikel
|
| 13 |
Sleep evaluation in patients with myasthenia gravis
|
Kawada, Tomoyuki
|
|
2018
|
28 |
4 |
p. 376
|
artikel
|
| 14 |
Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers
|
Felice, Kevin J.
|
|
2018
|
28 |
4 |
p. 339-345
|
artikel
|
Tijdschrift beschrijving