Wolfram Kress
Wuerzburg, BY, Germany
Last Updated: 09/26/2026
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Found 55 publications
Becker muscular dystrophy (BMD) is caused by a dystrophin missense mutation in the original family of Becker and Kiener.
Journal: Neuromuscular disorders : NMD
Published: November 06, 2025
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.
Journal: Molecular genetics & genomic medicine
Published: September 30, 2021
Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
Journal: BMC pediatrics
Published: February 26, 2021
The Bavarian Ethics Committee for Pre-Implantation Diagnosis-811 Decisions Over 5 Years.
Journal: Deutsches Arzteblatt international
Published: August 03, 2020
FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.
Journal: Neurology. Genetics
Published: July 23, 2020
Differential diagnosis of vacuolar myopathies in the NGS era.
Journal: Brain pathology (Zurich, Switzerland)
Published: January 03, 2020
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC.
Journal: Human mutation
Published: December 21, 2019
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Journal: Journal of neurology
Published: October 22, 2018
Distribution and Structure of DM2 Repeat Tract Alleles in the German Population.
Journal: Frontiers in neurology
Published: March 14, 2018
A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.
Journal: Neuromuscular disorders : NMD
Published: February 13, 2018
The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy.
Journal: Journal of neurology
Published: November 27, 2017
Last Updated: 09/26/2026