European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

AT van der Ploeg, ME Kruijshaar… - European journal of …, 2017 - Wiley Online Library
Background and purpose Pompe disease is a rare inheritable muscle disorder for which
enzyme replacement therapy (ERT) has been available since 2006. Uniform criteria for …

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 …

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 …

Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double …

JF Howard, K Utsugisawa, M Benatar, H Murai… - The Lancet …, 2017 - thelancet.com
Background Complement is likely to have a role in refractory generalised myasthenia gravis,
but no approved therapies specifically target this system. Results from a phase 2 study …

[HTML][HTML] Facioscapulohumeral muscular dystrophy

S Sacconi, L Salviati, C Desnuelle - … Acta (BBA)-Molecular Basis of Disease, 2015 - Elsevier
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical and
asymmetric pattern of muscle involvement and disease progression. Two forms of FSHD …

Common epigenetic changes of D4Z4 in contraction‐dependent and contraction‐independent FSHD

JC de Greef, RJLF Lemmers… - Human …, 2009 - Wiley Online Library
Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4
macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To …

[PDF][PDF] The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1

S Sacconi, RJLF Lemmers, J Balog… - The American Journal of …, 2013 - cell.com
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the
D4Z4 repeat array on chromosome 4 to a size of 1–10 units. The residual number of D4Z4 …

Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 …

V Bril, A Drużdż, J Grosskreutz, AA Habib… - The Lancet …, 2023 - thelancet.com
Background Generalised myasthenia gravis is a chronic, unpredictable, and debilitating
autoimmune disease. New treatments for this disease are needed because conventional …

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

RJLF Lemmers, JJ Goeman… - Human molecular …, 2015 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD: MIM# 158900) is a common myopathy
with marked but largely unexplained clinical inter-and intra-familial variability. It is caused by …

[HTML][HTML] Gender as a modifying factor influencing myotonic dystrophy type 1 phenotype severity and mortality: a nationwide multiple databases cross-sectional …

C Dogan, M De Antonio, D Hamroun, H Varet… - PloS one, 2016 - journals.plos.org
Background Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary
disease in terms of age of onset, clinical manifestations, and severity, challenging both …