| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient
|
Nishadham, Vikas
|
|
|
11 |
1 |
p. 221-232
|
artikel
|
| 2 |
‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’
|
Frongia, Ivana
|
|
|
11 |
1 |
p. 213-219
|
artikel
|
| 3 |
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data
|
Cutrona, Costanza
|
|
|
11 |
1 |
p. 85-90
|
artikel
|
| 4 |
Contribution of Complement, Microangiopathy and Inflammation in Idiopathic Inflammatory Myopathies
|
Honda, Masaya
|
|
|
11 |
1 |
p. 5-16
|
artikel
|
| 5 |
Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading
|
Landfeldt, E.
|
|
|
11 |
1 |
p. 25-57
|
artikel
|
| 6 |
Findings from the Longitudinal CINRG Becker Natural History Study
|
Clemens, Paula R.
|
|
|
11 |
1 |
p. 201-212
|
artikel
|
| 7 |
Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand
|
Kulsirichawaroj, Pimchanok
|
|
|
11 |
1 |
p. 191-199
|
artikel
|
| 8 |
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9
|
Jensen, Synnøve M.
|
|
|
11 |
1 |
p. 59-74
|
artikel
|
| 9 |
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening
|
Kölbel, Heike
|
|
|
11 |
1 |
p. 143-151
|
artikel
|
| 10 |
Longitudinal Course of Long Finger Flexor Shortening in Males with Duchenne Muscular Dystrophy: A Retrospective Review1
|
Houwen-van Opstal, Saskia L.S.
|
|
|
11 |
1 |
p. 17-23
|
artikel
|
| 11 |
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
|
Pfrimmer, Charlotte
|
|
|
11 |
1 |
p. 167-177
|
artikel
|
| 12 |
Monitoring Nusinersen Treatment Effects in Children with Spinal Muscular Atrophy with Quantitative Muscle MRI
|
Otto, Louise A.M.
|
|
|
11 |
1 |
p. 91-101
|
artikel
|
| 13 |
Moving Beyond the 2018 Minimum International Care Considerations for Osteoporosis Management in Duchenne Muscular Dystrophy (DMD): Meeting Report from the 3rd International Muscle-Bone Interactions Meeting 7th and 14th November 2022
|
Phung, Kim
|
|
|
11 |
1 |
p. 233-252
|
artikel
|
| 14 |
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy
|
Meyer, Alayne P.
|
|
|
11 |
1 |
p. 129-142
|
artikel
|
| 15 |
Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10 m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys
|
Stimpson, Georgia
|
|
|
11 |
1 |
p. 153-166
|
artikel
|
| 16 |
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures
|
Sitas, Barbara
|
|
|
11 |
1 |
p. 75-84
|
artikel
|
| 17 |
Self-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany
|
Landfeldt, Erik
|
|
|
11 |
1 |
p. 117-128
|
artikel
|
| 18 |
The First Decade of Journal of Neuromuscular Diseases: Supporting and Advancing the Rapidly Evolving Field of Translational Research
|
Lochmüller, Hanns
|
|
|
11 |
1 |
p. 1-3
|
artikel
|
| 19 |
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity
|
Saunders, Charlie
|
|
|
11 |
1 |
p. 179-189
|
artikel
|
| 20 |
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life
|
Karazi, Walaa
|
|
|
11 |
1 |
p. 103-116
|
artikel
|
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