Myopathology in times of modern imaging (Q38767197)

6 September 2017

title

Myopathology in times of modern imaging (English)

1 reference

6 September 2017

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28111795%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

H Jungbluth

series ordinal

1

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6 September 2017

publication date

23 January 2017

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Neuropathology and Applied Neurobiology

6 September 2017

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28111795%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

43

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28111795%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

issue

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28111795%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

24-43

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28111795%20AND%20SRC:MED&resulttype=core&format=json

Magnetic resonance imaging of inflammatory myopathies

10 June 2020

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

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Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

21 January 2018

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A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

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A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

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SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy

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

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21 January 2018

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

21 January 2018

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

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

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Nemaline myopathy: a clinical study of 143 cases

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Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family

21 January 2018

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Diagnostic approach to the congenital muscular dystrophies

21 January 2018

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T2 mapping in Duchenne muscular dystrophy: distribution of disease activity and correlation with clinical assessments

21 January 2018

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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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Muscle histology vs MRI in Duchenne muscular dystrophy

21 January 2018

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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

21 January 2018

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Improving highly accelerated fat fraction measurements for clinical trials in muscular dystrophy: origin and quantitative effect of R2* changes.

21 January 2018

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Dystrophin levels and clinical severity in Becker muscular dystrophy patients.

21 January 2018

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Muscle MRI in female carriers of dystrophinopathy.

21 January 2018

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

21 January 2018

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Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.

21 January 2018

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

21 January 2018

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Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies

21 January 2018

1 reference

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study

21 January 2018

1 reference

Broadening the imaging phenotype of dysferlinopathy at different disease stages

21 January 2018

1 reference

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

21 January 2018

1 reference

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

21 January 2018

1 reference

Consequences of a novel caveolin-3 mutation in a large German family

21 January 2018

1 reference

The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy.

21 January 2018

1 reference

Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy

21 January 2018

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Upper girdle imaging in facioscapulohumeral muscular dystrophy

21 January 2018

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Magnetic Resonance Imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: pattern refinement and implications for clinical trials.

21 January 2018

1 reference

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

21 January 2018

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Magnetic resonance imaging of muscle and brain in myotonic dystrophy

21 January 2018

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Cerebral and muscle MRI abnormalities in myotonic dystrophy

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Cardiac and skeletal muscle involvement in myotonic dystrophy type 2 (DM2): a quantitative 31P-MRS and MRI study.

21 January 2018

1 reference

New aspects of myofibrillar myopathies.

21 January 2018

1 reference

Distinct muscle imaging patterns in myofibrillar myopathies.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy

21 January 2018

1 reference

Magnetic resonance imaging of muscle in nemaline myopathy

21 January 2018

1 reference

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs

21 January 2018

1 reference

Muscle MRI findings in limb girdle muscular dystrophy type 2L

21 January 2018

1 reference

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

21 January 2018

1 reference

Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype

21 January 2018

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Muscle MRI findings in a three-generation family affected by Bethlem myopathy

21 January 2018

1 reference

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/NAN.12385

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28111795%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference