| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy
|
Enzmann, Cornelia
|
|
|
11 |
5 |
p. 1021-1033
|
artikel
|
| 2 |
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)
|
Martí, Yasmina
|
|
|
11 |
5 |
p. 889-904
|
artikel
|
| 3 |
Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series
|
Bouman, Karlijn
|
|
|
11 |
5 |
p. 919-934
|
artikel
|
| 4 |
Changes in Physiopathological Markers in Myotonic Dystrophy Type 1 Skeletal Muscle: A 3-Year Follow-up Study
|
Roussel, Marie-Pier
|
|
|
11 |
5 |
p. 981-995
|
artikel
|
| 5 |
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit
|
Kastreva, Kristina
|
|
|
11 |
5 |
p. 1011-1020
|
artikel
|
| 6 |
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort
|
Baskar, Dipti
|
|
|
11 |
5 |
p. 969-979
|
artikel
|
| 7 |
Clinician Perspectives of Gene Therapy as a Treatment Option for Duchenne Muscular Dystrophy
|
Cope, Heidi
|
|
|
11 |
5 |
p. 1085-1093
|
artikel
|
| 8 |
Erratum to: Sex Difference in Spinal Muscular Atrophy Patients – are Males More Vulnerable?
|
|
|
|
11 |
5 |
p. 1161
|
artikel
|
| 9 |
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients
|
Baumgartner, Daniel
|
|
|
11 |
5 |
p. 1035-1048
|
artikel
|
| 10 |
GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort
|
Baskar, Dipti
|
|
|
11 |
5 |
p. 959-968
|
artikel
|
| 11 |
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy
|
Roos, Andreas
|
|
|
11 |
5 |
p. 1131-1137
|
artikel
|
| 12 |
Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective
|
van de Camp, Sanne A.J.H.
|
|
|
11 |
5 |
p. 1067-1083
|
artikel
|
| 13 |
Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment
|
Harazi, Avi
|
|
|
11 |
5 |
p. 905-917
|
artikel
|
| 14 |
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’
|
Lek, Angela
|
|
|
11 |
5 |
p. 1139-1160
|
artikel
|
| 15 |
Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study
|
Sagerer, Elena
|
|
|
11 |
5 |
p. 1111-1122
|
artikel
|
| 16 |
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India
|
Harikrishna, Ganaraja Valakunja
|
|
|
11 |
5 |
p. 935-957
|
artikel
|
| 17 |
Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study
|
Schlaffke, Lara
|
|
|
11 |
5 |
p. 997-1009
|
artikel
|
| 18 |
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy
|
Arteaga-Bracho, Eduardo
|
|
|
11 |
5 |
p. 1049-1065
|
artikel
|
| 19 |
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data
|
van de Velde, N.M.
|
|
|
11 |
5 |
p. 1095-1109
|
artikel
|
| 20 |
The Role of Cognition, Affective Symptoms, and Apathy in Treatment Adherence with Noninvasive Home Mechanical Ventilation in Myotonic Dystrophy
|
Vosse, Bettine A.H.
|
|
|
11 |
5 |
p. 1123-1130
|
artikel
|
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