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Author/Creator Bachmann, Christoph

1. Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies. Issue 7 (1st April 2019)

Authors:
Bachmann, Christoph; Noreen, Faiza; Voermans, Nicol C.; Schär, Primo L.; Vissing, John; Fock, Johanna M.; Bulk, Saskia; Kusters, Benno; Moore, Steven A.; Beggs, Alan H.; Mathews, Katherine D.; Meyer, Megan; Genetti, Casie A.; Meola, Giovanni; Cardani, Rosanna; Mathews, Emma; Jungbluth, Heinz; Mun...
Journal:
Human mutation
Issue:
Volume 40:Issue 7(2019)
Page Start:
962
Record Type:
Journal Article
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4. Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength. (2nd May 2019)

Authors:
Elbaz, Moran; Ruiz, Alexis; Bachmann, Christoph; Eckhardt, Jan; Pelczar, Pawel; Venturi, Elisa; Lindsay, Chris; Wilson, Abigail D; Alhussni, Ahmed; Humberstone, Thomas; Pietrangelo, Laura; Boncompagni, Simona; Sitsapesan, Rebecca; Treves, Susan; Zorzato, Francesco
Journal:
Human molecular genetics
Issue:
Volume 28:Number 18(2019)
Page Start:
2987
Record Type:
Journal Article
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5. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Issue 12 (11th October 2018)

Authors:
Zaharieva, Irina T.; Sarkozy, Anna; Munot, Pinki; Manzur, Adnan; O'Grady, Gina; Rendu, John; Malfatti, Eduardo; Amthor, Helge; Servais, Laurent; Urtizberea, J. Andoni; Neto, Osorio Abath; Zanoteli, Edmar; Donkervoort, Sandra; Taylor, Juliet; Dixon, Joanne; Poke, Gemma; Foley, A. Reghan; Holmes, C...
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1980
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗