LARGE enzyme activity deciphered: a new therapeutic target for muscular dystrophies

Por Hewitt, Jane E
Publicado em 2012

A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene

Por Leidenroth, Andreas, Hewitt, Jane E
Publicado em 2010

Formation of the Embryonic Organizer Is Restricted by the Competitive Influences of Fgf Signaling and the SoxB1 Transcription Factors

Por Kuo, Cheng-Liang, Lam, Chi Man, Hewitt, Jane E., Scotting, Paul J.
Publicado em 2013

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis

Por Leidenroth, Andreas, Sorte, Hanne Sørmo, Gilfillan, Gregor, Ehrlich, Melanie, Lyle, Robert, Hewitt, Jane E
Publicado em 2012

Re-evaluation of the Role of Calcium Homeostasis Endoplasmic Reticulum Protein (CHERP) in Cellular Calcium Signaling

Por Lin-Moshier, Yaping, Sebastian, Peter J., Higgins, LeeAnn, Sampson, Natalie D., Hewitt, Jane E., Marchant, Jonathan S.
Publicado em 2013

A Laminin-2, Dystroglycan, Utrophin Axis Is Required for Compartmentalization and Elongation of Myelin Segments

Por Court, Felipe A., Hewitt, Jane E., Davies, Kay, Patton, Bruce L., Uncini, Antonino, Wrabetz, Lawrence, Feltri, M. Laura
Publicado em 2009

Defects in Glycosylation Impair Satellite Stem Cell Function and Niche Composition in the Muscles of the Dystrophic Large(myd) Mouse

Por Ross, Jacob, Benn, Abigail, Jonuschies, Jacqueline, Boldrin, Luisa, Muntoni, Francesco, Hewitt, Jane E, Brown, Susan C, Morgan, Jennifer E
Publicado em 2012

Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy

Por Clapp, Jannine , Mitchell, Laura M. , Bolland, Daniel J. , Fantes, Judy , Corcoran, Anne E. , Scotting, Paul J. , Armour, John A. L. , Hewitt, Jane E. 
Publicado em 2007

Glycoproteomic characterization of recombinant mouse α-dystroglycan

Por Harrison, Rebecca, Hitchen, Paul G, Panico, Maria, Morris, Howard R, Mekhaiel, David, Pleass, Richard J, Dell, Anne, Hewitt, Jane E, Haslam, Stuart M
Publicado em 2012

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei

Por Masny, Peter S, Chan, On Ying A, de Greef, Jessica C, Bengtsson, Ulla, Ehrlich, Melanie, Tawil, Rabi, Lock, Leslie F, Hewitt, Jane E, Stocksdale, Jennifer, Martin, Jorge H, van der Maarel, Silvere M, Winokur, Sara T
Publicado em 2010

De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes...

Por van der Maarel, Silvère M., Deidda, Giancarlo, Lemmers, Richard J. L. F., van Overveld, Petra G. M., van der Wielen, Michiel, Hewitt, Jane E., Sandkuijl, Lodewijk, Bakker, Bert, van Ommen, Gert-Jan B., Padberg, George W., Frants, Rune R.
Publicado em 2000

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome

Por van Reeuwijk, Jeroen, Grewal, Prabhjit K., Salih, Mustafa A. M., Beltrán-Valero de Bernabé, Daniel, McLaughlan, Jenny M., Michielse, Caroline B., Herrmann, Ralf, Hewitt, Jane E., Steinbrecher, Alice, Seidahmed, Mohamed Z., Shaheed, Mohamed M., Abomelha, Abdullah, Brunner, Han G., van Bokhoven, Hans, Voit, Thomas
Publicado em 2007