Julia R. Dahlqvist
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View article: Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy
Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy Open
We generated a comprehensive global SBMA dataset, enabling the identification of sensitive functional end points for clinical trials. Possible limitations relate to data collection nuances across sites that a single study protocol could ov…
View article: Hypokalemic periodic paralysis: a 3-year follow-up study
Hypokalemic periodic paralysis: a 3-year follow-up study Open
Background and objectives Primary hypokalemic periodic paralysis (HypoPP) is an inherited channelopathy most commonly caused by mutations in CACNA1S . HypoPP can present with different phenotypes: periodic paralysis (PP), permanent muscle …
View article: Swedish Constitutional Response to the Coronavirus Crisis The Odd One Out?
Swedish Constitutional Response to the Coronavirus Crisis The Odd One Out? Open
The Swedish response to the coronavirus crisis has, at least initially, deviated from those in most other comparable countries and the Swedish strategy has gained attention worldwide. Only a few binding restrictive measures have been enact…
View article: Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants
Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants Open
Objective: To explore fat replacement, muscle strength, and clinical features in women heterozygous for a pathogenic DMD variant, we prospectively examined 53 women, assuming that some of these women—despite of the recessive X-linked inher…
View article: Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis
Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis Open
This study provides Class IV evidence that for patients with sIBM, long-term treatment with bimagrumab was safe, well-tolerated, and did not provide meaningful functional benefit. The study is rated Class IV because of the open-label desig…
View article: A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity
A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity Open
Recessively inherited limb girdle muscular dystrophy (LGMD) type 2A is the most common LGMD worldwide. Here, we report the first single missense variant in CAPN3 causing dominantly inherited calpainopathy. A 43‐year‐old proband, his father…
View article: A quantitative method to assess muscle edema using short TI inversion recovery MRI
A quantitative method to assess muscle edema using short TI inversion recovery MRI Open
View article: Emergency Powers in Response to COVID-19: Policy Diffusion, Democracy, and Preparedness
Emergency Powers in Response to COVID-19: Policy Diffusion, Democracy, and Preparedness Open
View article: Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints
Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints Open
Objective Limb girdle muscular dystrophy type R9 ( LGMD R9) is an autosomal recessive muscle disease for which there is currently no causative treatment. The development of putative therapies requires sensitive outcome measures for clinica…
View article: Muscle contractility in spinobulbar muscular atrophy
Muscle contractility in spinobulbar muscular atrophy Open
View article: Clinical heterogeneity and phenotype/genotype findings in 5 families with <i>GYG1</i> deficiency
Clinical heterogeneity and phenotype/genotype findings in 5 families with <i>GYG1</i> deficiency Open
Our report extends the genetic and clinical spectrum of glycogenin-1-related myopathies to include scapuloperoneal and distal affection with glycogen accumulation.
View article: Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T) Open
The new findings of this study are (1) the consistent finding of a preferential affection of paraspinal and hamstring muscles in LGMD2T, (2) 3 new mutations in GMPPB, (3) variable loss of glycosylation tested with IIH6 and VIA4 antibodies,…
View article: Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E Open
This study expands the spectrum of phenotype in β-sarcoglycanopathy and provides strong evidence that severity of clinical involvement may be predicted by SGCB gene mutation and sarcoglycan protein expression.