Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy

Distinct Disease Phases in Muscles of Facioscapulohumeral Dystrophy Patients Identified by MR Detected Fat Infiltration

(2014) Barbara H. Janssen et al.   PLoS One

Teaching Video NeuroImages: Complicated scapular winging

(2013) M. Monforte et al.   NEUROLOGY

Clinical trial preparedness in facioscapulohumeral dystrophy: Outcome measures and patient access

(2013) R. Tawil et al.   NEUROMUSCULAR DISORDERS

Magnetic Resonance Imaging at 7T Reveals Common Events in Age-Related Sarcopenia and in the Homeostatic Response to Muscle Sterile Injury

(2013) Antonio Esposito et al.   PLoS One

Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy

(2012) Isabella Scionti et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Andreas Leidenroth et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Muscle MRI in female carriers of dystrophinopathy

(2012) G. Tasca et al.   EUROPEAN JOURNAL OF NEUROLOGY

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

(2012) Jaakko Sarparanta et al.   NATURE GENETICS

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations

(2012) Mohamed Jarraya et al.   NEUROMUSCULAR DISORDERS

TREAT-NMD workshop: Pattern recognition in genetic muscle diseases using muscle MRI

(2012) Volker Straub et al.   NEUROMUSCULAR DISORDERS

Trunk muscle involvement in late-onset Pompe disease: Study of thirty patients

(2012) Aída Alejaldre et al.   NEUROMUSCULAR DISORDERS

Muscle MRI findings in limb girdle muscular dystrophy type 2L

(2012) Anna Sarkozy et al.   NEUROMUSCULAR DISORDERS

Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles

(2012) Giorgio Tasca et al.   PLoS One

DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy

(2011) Linda N. Geng et al.   DEVELOPMENTAL CELL

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity

(2011) Sabrina Sacconi et al.   JOURNAL OF MEDICAL GENETICS

The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy

(2011) Seth D. Friedman et al.   MUSCLE & NERVE

P2.38 Lower limb muscle MRI in a large cohort of FSHD patients

(2011) G. Tasca et al.   NEUROMUSCULAR DISORDERS

Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns

(2011) Robert-Yves Carlier et al.   NEUROMUSCULAR DISORDERS

Correlation between muscle involvement, phenotype and D4Z4 fragment size in facioscapulohumeral muscular dystrophy

(2011) Chien-Hua Wang et al.   NEUROMUSCULAR DISORDERS

Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: Workshop 9th June 2010, LUMC, Leiden, The Netherlands

(2011) Richard J.L.F. Lemmers et al.   NEUROMUSCULAR DISORDERS

Neuromuscular imaging in inherited muscle diseases

(2010) Mike P. Wattjes et al.   EUROPEAN RADIOLOGY

CD8+ T Cells in Facioscapulohumeral Muscular Dystrophy Patients with Inflammatory Features at Muscle MRI

(2010) Giovanni Frisullo et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

(2010) R. J. L. F. Lemmers et al.   SCIENCE

Facioscapulohumeral muscular dystrophy

(2009) George W Padberg et al.   CURRENT OPINION IN NEUROLOGY

Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy

(2009) Hermien E. Kan et al.   NEUROMUSCULAR DISORDERS

Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study

(2008) K. Kesper et al.   ACTA NEUROLOGICA SCANDINAVICA