Ulla Werlauff
21 Papers
33 Citations
Ulla Werlauff is an academic researcher. The author has contributed to research in topics: Medicine & Congenital myopathy. The author has an hindex of 8, co-authored 15 publications.
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Papers
Physical characteristics and applicability of standard assessment methods in a total population of spinal muscular atrophy type II patients
TL;DR: There was a significant score difference in functional tests and muscle tests as well as in the sum of contractures between younger individuals and older individuals and a need for clinical tools that can evaluate patients with SMA type II of all ages and with severely reduced functional abilities.
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Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
TL;DR: Congenital myopathy due to mutations in the α‐actin 1 gene (ACTA1) was identified in 1999, but knowledge of prevalence and phenotype in patients who survive 5 years is lacking.
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Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.
TL;DR: Differences included variation in distribution of muscle weakness, presence of scoliosis and ptosis, physical performance and joint contractures, and common features were also present, such as onset of symptoms in infancy or childhood, musculoskeletal deformities and normal or low plasma levels of creatine kinase.
19
The applicability of four clinical methods to evaluate arm and hand function in all stages of spinal muscular atrophy type II
TL;DR: At the impairment level, MMT is the superior measure of muscle function in very weak patients in whom HHD cannot reflect capacity and in differentiating among SMA II patients of all ages and in all stages of the disease, the ability of abbreviated versions of scales targeting upper limb function is superior to unabridged versions of these scales.
17
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.
TL;DR: The findings show that CNM caused by DNM2 mutations is the most common form of CNM in Danish patients older than5 years, but XLMTM is not negligible even past age 5 years, and the phenotype may be much milder than generally described - also in patients with the classically described infantile form of the disease.