Search filters

List of works by Bjarne Udd

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy

scientific article published on 06 March 2019

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

scientific article published on 10 May 2015

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> Gene

scientific article published on 27 October 2021

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

scientific article

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

Titin mutation segregates with hereditary myopathy with early respiratory failure

scientific article

Paulina is supported by:

About Paulina

Help