Myopathology in times of modern imaging

Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials

(2016) Giorgio Tasca et al.   ANNALS OF NEUROLOGY

Recent developments in muscle imaging of neuromuscular disorders

(2016) Dirk Fischer et al.   CURRENT OPINION IN NEUROLOGY

New aspects of myofibrillar myopathies

(2016) Rudolf A. Kley et al.   CURRENT OPINION IN NEUROLOGY

Limb girdle muscular dystrophies

(2016) John Vissing   CURRENT OPINION IN NEUROLOGY

Muscle MRI of the Upper Extremity in the Myotonic Dystrophy Type 1

(2016) Kouji Hayashi et al.   EUROPEAN NEUROLOGY

Broadening the imaging phenotype of dysferlinopathy at different disease stages

(2016) Jorge Díaz et al.   MUSCLE & NERVE

Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison withSepn1myopathy

(2016) David Gómez-Andrés et al.   MUSCLE & NERVE

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

(2016) Jordi Díaz-Manera et al.   NEUROMUSCULAR DISORDERS

Muscle MRI findings in facioscapulohumeral muscular dystrophy

(2015) Simonetta Gerevini et al.   EUROPEAN RADIOLOGY

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

(2015) Michaela Yuen et al.   JOURNAL OF CLINICAL INVESTIGATION

Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations

(2015) Nanna Witting et al.   MUSCLE & NERVE

Whole-body muscle magnetic resonance imaging inSEPN1-related myopathy shows a homogeneous and recognizable pattern

(2015) Karolina Hankiewicz et al.   MUSCLE & NERVE

Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy

(2015) Doris G. Leung et al.   MUSCLE & NERVE

Progression and variation of fatty infiltration of the thigh muscles in Duchenne muscular dystrophy, a muscle magnetic resonance imaging study

(2015) Wenzhu Li et al.   NEUROMUSCULAR DISORDERS

Improving Highly Accelerated Fat Fraction Measurements for Clinical Trials in Muscular Dystrophy: Origin and Quantitative Effect of R2* Changes

(2015) Thomas Loughran et al.   RADIOLOGY

Clinical Muscle Testing Compared with Whole-Body Magnetic Resonance Imaging in Facio-scapulo-humeral Muscular Dystrophy

(2015) J.U. Regula et al.   Clinical Neuroradiology

Association of a NovelACTA1Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family

(2015) Kristen Zukosky et al.   JAMA Neurology

Magnetic Resonance Assessment of Hypertrophic and Pseudo-Hypertrophic Changes in Lower Leg Muscles of Boys with Duchenne Muscular Dystrophy and Their Relationship to Functional Measurements

(2015) Ravneet S. Vohra et al.   PLoS One

Muscle Quantitative MR Imaging and Clustering Analysis in Patients with Facioscapulohumeral Muscular Dystrophy Type 1

(2015) Emilie Lareau-Trudel et al.   PLoS One

SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

(2014) Pankaj B. Agrawal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

(2014) Johann Böhm et al.   BRAIN

MRI of Tibialis Anterior as “Surrogate Measure” in Myotonic Dystrophy Type 1

(2014) Giovanni Meola   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

MRI of Tibialis Anterior Skeletal Muscle in Myotonic Dystrophy Type 1

(2014) Chantal Coté et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy

(2014) Claudia Castiglioni et al.   MUSCLE & NERVE

Magnetic resonance imaging phenotyping of Becker muscular dystrophy

(2014) Neda Faridian-Aragh et al.   MUSCLE & NERVE

Quantitative muscle ultrasound versus quantitative magnetic resonance imaging in facioscapulohumeral dystrophy

(2014) Barbara H. Janssen et al.   MUSCLE & NERVE

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies

(2014) Leroy ten Dam et al.   NEUROMUSCULAR DISORDERS

Diagnostic approach to the congenital muscular dystrophies

(2014) Carsten G. Bönnemann et al.   NEUROMUSCULAR DISORDERS

Skeletal muscle imaging in facioscapulohumeral muscular dystrophy, pattern and asymmetry of individual muscle involvement

(2014) N.H.M. Rijken et al.   NEUROMUSCULAR DISORDERS

Quantitative MRI and strength measurements in the assessment of muscle quality in Duchenne muscular dystrophy

(2014) B.H. Wokke et al.   NEUROMUSCULAR DISORDERS

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L

(2014) Giorgio Tasca et al.   NEUROMUSCULAR DISORDERS

Effectiveness of diffusion tensor imaging in assessing disease severity in Duchenne muscular dystrophy: preliminary study

(2014) Skorn Ponrartana et al.   PEDIATRIC RADIOLOGY

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

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

Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy

(2014) Giorgio Tasca et al.   PLoS One

Pathogenic Mechanisms in Centronuclear Myopathies

(2014) Heinz Jungbluth et al.   Frontiers in Aging Neuroscience

Recent advances in nemaline myopathy

(2013) Norma B. Romero et al.   CURRENT OPINION IN NEUROLOGY

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

(2013) Sissel Løseth et al.   JOURNAL OF NEUROLOGY

Dystrophin levels and clinical severity in Becker muscular dystrophy patients

(2013) J. C. van den Bergen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

(2013) O. Ceyhan-Birsoy et al.   NEUROLOGY

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

(2013) L. Maggi et al.   NEUROMUSCULAR DISORDERS

Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

(2013) Michela Catteruccia et al.   NEUROMUSCULAR DISORDERS

Approach to the diagnosis of congenital myopathies

(2013) Kathryn N. North et al.   NEUROMUSCULAR DISORDERS

Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study

(2013) Tracey A. Willis et al.   PLoS One

Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms

(2012) Kristen J. Nowak et al.   ACTA NEUROPATHOLOGICA

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

(2012) Karen Majczenko et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Muscle MRI in female carriers of dystrophinopathy

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

Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: A follow-up muscle MRI study

(2012) Ibrahim Mahjneh et al.   NEUROMUSCULAR DISORDERS

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

(2012) Mohamed Jarraya et al.   NEUROMUSCULAR DISORDERS

Cerebral and muscle MRI abnormalities in myotonic dystrophy

(2012) Daniel T. Franc et al.   NEUROMUSCULAR DISORDERS

Muscle MRI in Becker muscular dystrophy

(2012) Giorgio Tasca et al.   NEUROMUSCULAR DISORDERS

Muscle MRI findings in limb girdle muscular dystrophy type 2L

(2012) Anna Sarkozy et al.   NEUROMUSCULAR DISORDERS

Whole body muscle MRI protocol: Pattern recognition in early onset NM disorders

(2012) Susana Quijano-Roy et al.   NEUROMUSCULAR DISORDERS

Muscle Magnetic Resonance Imaging in Congenital Myopathies Due to Ryanodine Receptor Type 1 Gene Mutations

(2011) Andrea Klein   ARCHIVES OF NEUROLOGY

3 Tesla Sodium Inversion Recovery Magnetic Resonance Imaging Allows for Improved Visualization of Intracellular Sodium Content Changes in Muscular Channelopathies

(2011) Armin Michael Nagel et al.   INVESTIGATIVE RADIOLOGY

Quantitative assessment of skeletal muscle degeneration in patients with myotonic dystrophy type 1 using MRI

(2011) Bassem Hiba et al.   JOURNAL OF MAGNETIC RESONANCE IMAGING

The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy

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

Muscle histology vs MRI in Duchenne muscular dystrophy

(2011) M. Kinali et al.   NEUROLOGY

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

(2011) Montse Olivé et al.   NEUROMUSCULAR DISORDERS

Lower leg muscle involvement in Duchenne muscular dystrophy: an MR imaging and spectroscopy study

(2011) Martin Torriani et al.   SKELETAL RADIOLOGY

Muscle fat-fraction and mapping in Duchenne muscular dystrophy: evaluation of disease distribution and correlation with clinical assessments

(2011) Michele Gaeta et al.   SKELETAL RADIOLOGY

Core Myopathies

(2011) Heinz Jungbluth et al.   Seminars in Pediatric Neurology

RYR1 mutations are a common cause of congenital myopathies with central nuclei

(2010) J.M. Wilmshurst et al.   ANNALS OF NEUROLOGY

Neuromuscular imaging in inherited muscle diseases

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

Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

(2010) Berit Jordan et al.   JOURNAL OF NEUROLOGY

Quantitative Assessment of the T2 Relaxation Time of the Gluteus Muscles in Children with Duchenne Muscular Dystrophy: a Comparative Study Before and After Steroid Treatment

(2010) Hee Kyung Kim et al.   KOREAN JOURNAL OF RADIOLOGY

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

(2010) C. Paradas et al.   NEUROLOGY

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

(2010) Rachel D. Susman et al.   NEUROMUSCULAR DISORDERS

Only fat infiltrated muscles in resting lower leg of FSHD patients show disturbed energy metabolism

(2010) H. E. Kan et al.   NMR IN BIOMEDICINE

MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies

(2010) R. Stramare et al.   Radiologia Medica

T2 Mapping in Duchenne Muscular Dystrophy: Distribution of Disease Activity and Correlation with Clinical Assessments

(2010) Hee Kyung Kim et al.   RADIOLOGY

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

(2009) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY

Muscle Metabolism in Duchenne Muscular Dystrophy Assessed by In Vivo Proton Magnetic Resonance Spectroscopy

(2009) Tsyh-Jyi Hsieh et al.   JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY

MR imaging in Duchenne muscular dystrophy: Quantification of T1-weighted signal, contrast uptake, and the effects of exercise

(2009) Penelope Garrood et al.   JOURNAL OF MAGNETIC RESONANCE IMAGING

Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused byLMNAgene mutations

(2009) Nicola Carboni et al.   MUSCLE & NERVE

Rippling muscle disease: Variable phenotype in a family with five afflicted members

(2009) Christian Jacobi et al.   MUSCLE & NERVE

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

“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

(2008) Jorge A. Bevilacqua et al.   ACTA NEUROPATHOLOGICA

Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol

(2008) Nicolai Schramm et al.   EUROPEAN RADIOLOGY

Muscle ultrasound in neuromuscular disorders

(2008) Sigrid Pillen et al.   MUSCLE & NERVE

Distinct muscle imaging patterns in myofibrillar myopathies

(2008) D. Fischer et al.   NEUROLOGY

Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease)

(2008) Nomazulu Dlamini et al.   NEUROMUSCULAR DISORDERS

Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation

(2008) Nicola Carboni et al.   NEUROMUSCULAR DISORDERS

Three-Point Technique of Fat Quantification of Muscle Tissue as a Marker of Disease Progression in Duchenne Muscular Dystrophy: Preliminary Study

(2007) Tishya A. L. Wren et al.   AMERICAN JOURNAL OF ROENTGENOLOGY