| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype
|
Murata, Daisuke
|
|
|
10 |
1 |
p. 107-118
|
artikel
|
| 2 |
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report
|
Giannese, Domenico
|
|
|
10 |
1 |
p. 119-123
|
artikel
|
| 3 |
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review
|
Bouman, Karlijn
|
|
|
10 |
1 |
p. 1-13
|
artikel
|
| 4 |
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA
|
Mouchet, Julie
|
|
|
10 |
1 |
p. 41-53
|
artikel
|
| 5 |
Electrical Impedance Myography Correlates with Functional Measures of Disease Progression in D2-mdx Mice and Boys with Duchenne Muscular Dystrophy
|
Chrzanowski, Stephen M.
|
|
|
10 |
1 |
p. 81-90
|
artikel
|
| 6 |
Functional and Clinical Outcomes Associated with Steroid Treatment among Non-ambulatory Patients with Duchenne Muscular Dystrophy1
|
McDonald, Craig M.
|
|
|
10 |
1 |
p. 67-79
|
artikel
|
| 7 |
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study
|
Pechmann, Astrid
|
|
|
10 |
1 |
p. 29-40
|
artikel
|
| 8 |
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD
|
Stojkovic, Tanya
|
|
|
10 |
1 |
p. 125-133
|
artikel
|
| 9 |
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy
|
Farrar, Michelle A.
|
|
|
10 |
1 |
p. 15-28
|
artikel
|
| 10 |
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany
|
Müller-Felber, Wolfgang
|
|
|
10 |
1 |
p. 55-65
|
artikel
|
| 11 |
On the use of D2.B10-Dmdmdx/J (D2.mdx) Versus C57BL/10ScSn-Dmdmdx/J (mdx) Mouse Models for Preclinical Studies on Duchenne Muscular Dystrophy: A Cautionary Note from Members of the TREAT-NMD Advisory Committee on Therapeutics
|
Aartsma-Rus, Annemieke
|
|
|
10 |
1 |
p. 155-158
|
artikel
|
| 12 |
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022
|
O’Connor, Thomas N.
|
|
|
10 |
1 |
p. 135-154
|
artikel
|
| 13 |
Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related
|
Chen, Zhiyong
|
|
|
10 |
1 |
p. 91-106
|
artikel
|
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