skip to main content
Refined by: Journal Title: Human Mutation remove
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Material Type:
Article
Add to e-Shelf

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

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, Chris ; Williams, Glyn ; Holder, Muriel ; Yum, Sabrina ; Medne, Livija ; Quijano‐Roy, Susana ; Romero, Norma B. ; Fauré, Julien ; Feng, Lucy ; Bastaki, Laila ; Davis, Mark R. ; Phadke, Rahul ; Sewry, Caroline A. ; Bönnemann, Carsten G. ; Jungbluth, Heinz ; Bachmann, Christoph ; Treves, Susan ; Muntoni, Francesco

Human Mutation, December 2018, Vol.39(12), pp.1980-1994 [Peer Reviewed Journal]

Full text available

View all versions
2
Material Type:
Article
Add to e-Shelf

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

Bachmann, Christoph ; Noreen, Faiza ; Voermans, N.C. ; Schaer, Primo L. ; Vissing, J. ; Fock, J.M. ; Kusters, B. ; Zorzato, F. ; Treves, S.

Human Mutation, 2019, Vol.40, pp.962-974 [Peer Reviewed Journal]

Full text available

3
Material Type:
Article
Add to e-Shelf

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies

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 ; Muntoni, Francesco ; Zorzato, Francesco ; Treves, Susan

Human Mutation, July 2019, Vol.40(7), pp.962-974 [Peer Reviewed Journal]

Full text available

View all versions
4
Material Type:
Article
Add to e-Shelf

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

Schmidts, Miriam ; Frank, Valeska ; Eisenberger, Tobias ; Al Turki, Saeed ; Bizet, Albane A. ; Antony, Dinu ; Rix, Suzanne ; Decker, Christian ; Bachmann, Nadine ; Bald, Martin ; Vinke, Tobias ; Toenshoff, Burkhard ; Di Donato, Natalia ; Neuhann, Theresa ; Hartley, Jane L. ; Maher, Eamonn R. ; Bogdanović, Radovan ; Peco‐Antić, Amira ; Mache, Christoph ; Hurles, Matthew E. ; Joksić, Ivana ; Guć‐Šćekić, Marija ; Dobricic, Jelena ; Brankovic‐Magic, Mirjana ; Bolz, Hanno J. ; Pazour, Gregory J. ; Beales, Philip L. ; Scambler, Peter J. ; Saunier, Sophie ; Mitchison, Hannah M. ; Bergmann, Carsten

Human Mutation, May 2013, Vol.34(5), pp.714-724 [Peer Reviewed Journal]

Full text available

View all versions

Personalize your results

  1. Edit

Refine Search Results

Expand My Results

  1.   

Creation Date 

From To

Suggested New Searches

Ignore my query and look for everything

by this author/creator:

  1. Bachmann, Christoph
  2. Treves, Susan
  3. Muntoni, Francesco
  4. Jungbluth, Heinz
  5. Antony, Dinu

Searching Remote Databases, Please Wait