Facioscapulohumeral muscular dystrophy
R Tawil, SM Van Der Maarel - … & Nerve: Official Journal of the …, 2006 - Wiley Online Library
Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited disorder with an
initially restricted pattern of weakness. Early involvement of the facial and scapular stabilizer …
initially restricted pattern of weakness. Early involvement of the facial and scapular stabilizer …
[HTML][HTML] Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
R Tawil, SM Van Der Maarel, SJ Tapscott - Skeletal muscle, 2014 - Springer
Although the pathophysiology of facioscapulohumeral dystrophy (FSHD) has been
controversial over the last decades, progress in recent years has led to a model that …
controversial over the last decades, progress in recent years has led to a model that …
The expanding field of IgG4‐mediated neurological autoimmune disorders
MG Huijbers, LA Querol, EH Niks… - European journal of …, 2015 - Wiley Online Library
At least 13 different disease entities affecting the central nervous system, peripheral nervous
system and connective tissue of the skin or kidneys are associated with immunoglobulin G4 …
system and connective tissue of the skin or kidneys are associated with immunoglobulin G4 …
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block… - Nature …, 2012 - nature.com
Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the
D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 …
D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 …
A unifying genetic model for facioscapulohumeral muscular dystrophy
RJLF Lemmers, PJ Van der Vliet, R Klooster, S Sacconi… - Science, 2010 - science.org
Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy
in adults that is foremost characterized by progressive wasting of muscles in the upper body …
in adults that is foremost characterized by progressive wasting of muscles in the upper body …
Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4
YJM de Kok, SM van der Maarel, M Bitner-Glindzicz… - Science, 1995 - science.org
Deafness with fixation of the stapes (DFN3) is the most frequent X-linked form of hearing
impairment. The underlying gene has been localized to a 500-kilobase segment of the Xq21 …
impairment. The underlying gene has been localized to a 500-kilobase segment of the Xq21 …
[HTML][HTML] Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene
L Snider, LN Geng, RJLF Lemmers, M Kyba… - PLoS …, 2010 - journals.plos.org
Each unit of the D4Z4 macrosatellite repeat contains a retrotransposed gene encoding the
DUX4 double-homeobox transcription factor. Facioscapulohumeral dystrophy (FSHD) is …
DUX4 double-homeobox transcription factor. Facioscapulohumeral dystrophy (FSHD) is …
[PDF][PDF] DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy
LN Geng, Z Yao, L Snider, AP Fong, JN Cech… - Developmental cell, 2012 - cell.com
Facioscapulohumeral dystrophy (FSHD) is one of the most common inherited muscular
dystrophies. The causative gene remains controversial and the mechanism of …
dystrophies. The causative gene remains controversial and the mechanism of …
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
PGM van Overveld, RJFL Lemmers, LA Sandkuijl… - Nature …, 2003 - nature.com
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD1,
OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this …
OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this …
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
J Gabriëls, MC Beckers, H Ding, A De Vriese… - Gene, 1999 - Elsevier
Facioscapulohumeral muscular dystrophy (FSHD) is linked to the polymorphic D4Z4 locus
on chromosome 4q35. In non-affected individuals, this locus comprises 10–100 tandem …
on chromosome 4q35. In non-affected individuals, this locus comprises 10–100 tandem …