Distinct muscle imaging patterns in myofibrillar myopathies.
about
Myocardial fibrosis in desmin-related hypertrophic cardiomyopathy.Myofibrillar myopathies: new developments.Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).A reproducible semi-automatic method to quantify the muscle-lipid distribution in clinical 3D CT images of the thigh.Neuromuscular imaging in inherited muscle diseasesComparison of clinical semi-quantitative assessment of muscle fat infiltration with quantitative assessment using chemical shift-based water/fat separation in MR studies of the calf of post-menopausal women.A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patientsUnusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.Characteristic MRI Findings of upper Limb Muscle Involvement in Myotonic Dystrophy Type 1.Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathyCongenital myopathy caused by a novel missense mutation in the CFL2 gene.Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.Combined quantification of fatty infiltration, T 1-relaxation times and T 2*-relaxation times in normal-appearing skeletal muscle of controls and dystrophic patients.Desminopathies: pathology and mechanisms.Muscle MRI in muscular dystrophiesImaging alterations in skeletal muscle channelopathies: a study in 15 patientsMuscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.Muscle magnetic resonance imaging in congenital myasthenic syndromes.Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle diseaseFunctional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinicFilamin C-related myopathies: pathology and mechanisms.Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.Desmin-related myopathy.Genetics of neuromuscular disorders.Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.Desmin in muscle and associated diseases: beyond the structural function.Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.Myopathology in times of modern imaging.Muscle imaging in inherited and acquired muscle diseases.Muscle MRI in neutral lipid storage disease (NLSD).Quantitative Assessment of Trunk Muscles Involvement in Patients with Myotonic Dystrophy Type 1 Using a Whole Body Muscle Magnetic Resonance Imaging.RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice.Quantitative MRI can detect subclinical disease progression in muscular dystrophy.Magnetic Resonance Imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: pattern refinement and implications for clinical trials.Muscle magnetic resonance imaging in spinal muscular atrophy type 3: Selective and progressive involvement.Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report.Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.
P2860
Q30478230-49DA417F-B918-4592-A628-9818AEA03D75Q31135460-742B71AA-B26A-4831-8FA2-901972DB22E9Q33608787-2F02A891-69F6-4840-8AF7-4905C32D303FQ33614851-8A4ACA33-597B-47E5-B497-DFF309E1FEF1Q34130501-2D9C6DF9-6188-4833-9F68-772861E75DECQ34192522-BE16FD14-67FE-4EA1-AA60-161435DAE624Q34463331-BADD774E-F5C1-4EB9-84E3-AC0A65EA72D7Q35141056-285068FC-18ED-4260-A617-30AD83107E5BQ35315272-8453458D-A4AE-488A-A88E-6D1DED1DCB50Q35547188-7DD6C19F-060B-45F3-A304-E69741D70CD8Q35651394-2BD650B8-9D3E-4C55-B46F-B53CF44EFFD1Q36040738-1B47883A-3696-41B4-A7F6-6C2C8F8E2893Q36103930-D8DC0AE7-A672-4A75-9CE4-3990C83CABDBQ36154874-12A5D62A-D4EB-44FA-970A-FC38D40A38FCQ36218715-B5E12369-9962-4432-B67A-6745173FAA98Q36319212-6CC1D696-E78C-49EB-980E-17863A56276DQ36503373-9A25E5D3-1636-41DA-910D-215E201C43FFQ36876584-81658119-1611-4FC7-AB35-8E5DFDB7C54DQ36876590-A6C334C5-1C53-4BA4-AC1C-4F256237EFF9Q37098400-A2A2D12D-D777-41CC-81BC-B4A9E0FDC7EEQ37169452-BAC1EF8F-C43D-4320-A761-9A285713ECFCQ37241396-448F9DE1-CB3F-4CF8-9E5A-6179645C073EQ37247093-76E6D9F0-9BA9-4181-AD22-B48AB9BB2F90Q37450673-7E542C8E-67EB-4313-9040-ADE187D274C1Q37490172-FAB24BCC-56DF-418B-A72C-8C94A8AAF6E5Q37780788-BE678E6A-A9D0-4A09-8E32-634C51A9886DQ37999075-D63D9EBC-5D09-4704-A82D-A630CC950E42Q38088972-DAB8EC0A-DF4B-43EC-A782-3511A269CD93Q38263986-E3350F7D-D552-4E32-A9FE-788775CFCA06Q38749264-2EC4CCCB-E87A-4426-BBE3-60CA80C9FDEAQ38767197-F9E9A9B7-CE57-43B6-AF62-95E1495DF7DAQ38784024-FEF80B82-25F9-4790-B2B5-BDC09A7868EDQ38786572-32952492-6116-4BBF-8274-38B94716D090Q38910890-6B08C14C-27AB-4996-8964-49D4C5A6E53BQ39351028-72CCE885-CFAF-41E4-AE02-76B0384467FDQ39657551-796411F3-0C61-454E-B922-0042BC2CE251Q39905506-05A8D036-A2EA-4BBB-9BF7-60A20B6B3BE1Q40614216-CD44E33D-1952-491D-9BAF-AC254C51DC2AQ41116514-7D822590-9C80-4DA4-8DBA-FC82572DADB2Q46531755-1879E12F-47EF-412A-BD97-0BA37F21F04F
P2860
Distinct muscle imaging patterns in myofibrillar myopathies.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Distinct muscle imaging patterns in myofibrillar myopathies.
@en
type
label
Distinct muscle imaging patterns in myofibrillar myopathies.
@en
prefLabel
Distinct muscle imaging patterns in myofibrillar myopathies.
@en
P2093
P2860
P1433
P1476
Distinct muscle imaging patterns in myofibrillar myopathies
@en
P2093
A Grossmann
P2860
P304
P356
10.1212/01.WNL.0000324927.28817.9B
P407
P50
P577
2008-09-01T00:00:00Z