Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing

Authors: Ann‐Kathrin Zaum, Indrajit Nanda, Wolfram Kress, Simone Rost

Source: Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)

Subject Terms: chromosome inversion, Duchenne muscular dystrophy, dystrophin, genetic diagnostics, whole genome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/01e72dc3739a4d2cb76bdb7449395b38

Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency

Authors: Delia Lorenz, Wolfram Kress, Ann-Kathrin Zaum, Christian P. Speer, Helge Hebestreit

Source: BMC Pediatrics, Vol 21, Iss 1, Pp 1-7 (2021)

Subject Terms: Connective tissue disorder, Spondylodysplastic Ehlers-Danlos syndrome, B4GALT7 gene, Case report, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/7fa80639c0124d44ab21654d9e811e30

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population

Authors: Alexis S. Mahyera, Tamara Schneider, Birgit Halliger-Keller, Katja Schrooten, Eva-Maria Hörner, Simone Rost, Wolfram Kress

Source: Frontiers in Neurology, Vol 9 (2018)

Subject Terms: DM2, intergenerational contraction, de novo expansion, premutation, penetrance, prevalence, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2018.00463/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/9f0ce65863e34bd4a9214011092c40aa

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.

Authors: Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S Cowling, G Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte

Source: PLoS Genetics, Vol 9, Iss 6, p e1003430 (2013)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3675003?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/71fae5c4ad8148558d23d0f165d773f4

Correction: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy.

Authors: Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S. Cowling, G. Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte

Source: PLoS Genetics, Vol 9, Iss 6 (2013)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3712736; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/0b45c76fc9c1440787fe2458341a8ccd

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Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.

Authors: Eleonore Eymard‐Pierre, Koji Yamanaka, Martin Haeussler, Wolfram Kress, Fernande Gauthier‐Barichard, Patricia Combes, Don W. Cleveland, Odile Boespflug‐Tanguy

Source: Annals of Neurology; Jun2006, Vol. 59 Issue 6, p976-980, 5p

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

Authors: Benedikt G. H. Schoser, Wolfram Kress, Maggie C. Walter, Birgit Halliger-Keller, Hanns Lochmüller, Kenneth Ricker

Source: Brain: A Journal of Neurology; Aug2004, Vol. 127 Issue 8, p1868-1877, 10p

Muscle pathology in 57 patients with myotonic dystrophy type 2.

Authors: Benedikt G.H. Schoser, Christiane Schneider-Gold, Wolfram Kress, Hans-Hilmar Goebel, Peter Reilich, Manuela C. Koch, Dieter E. Pongratz, Klaus V. Toyka, Hanns Lochmüller, Kenneth Ricker

Source: Muscle & Nerve; Feb2004, Vol. 29 Issue 2, p275-281, 7p

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