| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Characterizing Enrollment in Observational Studies of Duchenne Muscular Dystrophy by Race and Ethnicity
|
Barnard, Alison M.
|
|
|
7 |
2 |
p. 167-173
|
artikel
|
| 2 |
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants
|
Forrester, Natalie
|
|
|
7 |
2 |
p. 137-143
|
artikel
|
| 3 |
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies
|
Savarese, Marco
|
|
|
7 |
2 |
p. 153-166
|
artikel
|
| 4 |
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?1
|
Müller-Felber, Wolfgang
|
|
|
7 |
2 |
p. 109-117
|
artikel
|
| 5 |
Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review
|
Taminato, Tomoya
|
|
|
7 |
2 |
p. 193-201
|
artikel
|
| 6 |
Pseudoexons of the DMD Gene
|
Keegan, Niall P.
|
|
|
7 |
2 |
p. 77-95
|
artikel
|
| 7 |
Relationship between Eating and Digestive Symptoms and Respiratory Function in Advanced Duchenne Muscular Dystrophy Patients
|
Lee, Jang Woo
|
|
|
7 |
2 |
p. 101-107
|
artikel
|
| 8 |
RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design
|
Finkel, Richard S.
|
|
|
7 |
2 |
p. 145-152
|
artikel
|
| 9 |
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2
|
Glascock, Jacqueline
|
|
|
7 |
2 |
p. 97-100
|
artikel
|
| 10 |
Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1
|
Dunaway Young, Sally
|
|
|
7 |
2 |
p. 183-192
|
artikel
|
| 11 |
The Slipping Slipper Sign: A Poor Man’s Test for Severe Diabetic Peripheral Neuropathy
|
Lutchmansingh, Khama
|
|
|
7 |
2 |
p. 175-181
|
artikel
|
| 12 |
Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype
|
Benyamini, Hadar
|
|
|
7 |
2 |
p. 119-136
|
artikel
|
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