Congenital muscular dystrophy: an expanding clinical syndrome

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.

Neuromuscular disorders : NMD·2012

Remission of clinical signs in early duchenne muscular dystrophy on intermittent low-dosage prednisolone therapy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2002

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

Neurology·2002

Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?

Neuromuscular disorders : NMD·2002

Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.

Neuropediatrics·2002

Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?

Neuromuscular disorders : NMD·2001

Atherosclerotic Cardiovascular Diseases Increase ALS Risk by 82% While Optimal Cardiovascular Health Halves It: A 0.5-Million Prospective Cohort Study.

Annals of neurology·2026

Non-contrast CT Markers of Hematoma Expansion and Andexanet Response in Factor Xa Inhibitor-Associated Intracerebral Hemorrhage: An Analysis from ANNEXa-I Trial.

Annals of neurology·2026

Tracking Socio-emotional Brain Changes in Premanifest C9orf72 Repeat Expansion Carriers: A Structural and Functional 2-Year Longitudinal Magnetic Resonance Imaging Study.

Annals of neurology·2026

Hippocampal Seizure-Related Burden is Associated with Accelerated Long-Term Forgetting in Focal Epilepsy.

Annals of neurology·2026

T Cell-Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy.

Annals of neurology·2026

Cofilin 1 Is an Extracellular Vesicle-Associated Plasma Biomarker of Parkinson's Disease in Humans.

Annals of neurology·2026

Enhancing extracellular vesicles purity from plasma: A comparative study of isolation strategies.

Journal of biotechnology·2026

Case Report: Reversible neurological involvement associated with Chlamydia psittaci infection: clinical, cerebrospinal fluid and neuroimaging features of three fully documented cases.

Frontiers in medicine·2026

Machine learning integrating CT radiomics and clinical variables for preoperative prediction of renal uric acid stones: a model development and validation study.

Translational andrology and urology·2026

Coronary computed tomography angiography-derived quantitative flow ratio of stented coronary vessels: comparison with invasive fractional flow reserve.

European journal of radiology·2026

Determination of nanoparticle density profiles using centrifugal field-flow fractionation coupled with multi-angle light scattering.

Journal of chromatography. A·2026

Diagnostic Consistency Tests of the Concordance Cosmology.

Physical review letters·2026

Related Experiment Videos

Congenital muscular dystrophy: an expanding clinical syndrome

Related Concept Videos

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.

Remission of clinical signs in early duchenne muscular dystrophy on intermittent low-dosage prednisolone therapy.

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?

Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.

Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?

Atherosclerotic Cardiovascular Diseases Increase ALS Risk by 82% While Optimal Cardiovascular Health Halves It: A 0.5-Million Prospective Cohort Study.

Non-contrast CT Markers of Hematoma Expansion and Andexanet Response in Factor Xa Inhibitor-Associated Intracerebral Hemorrhage: An Analysis from ANNEXa-I Trial.

Tracking Socio-emotional Brain Changes in Premanifest C9orf72 Repeat Expansion Carriers: A Structural and Functional 2-Year Longitudinal Magnetic Resonance Imaging Study.

Hippocampal Seizure-Related Burden is Associated with Accelerated Long-Term Forgetting in Focal Epilepsy.

T Cell-Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy.

Cofilin 1 Is an Extracellular Vesicle-Associated Plasma Biomarker of Parkinson's Disease in Humans.

Enhancing extracellular vesicles purity from plasma: A comparative study of isolation strategies.

Case Report: Reversible neurological involvement associated with Chlamydia psittaci infection: clinical, cerebrospinal fluid and neuroimaging features of three fully documented cases.

Machine learning integrating CT radiomics and clinical variables for preoperative prediction of renal uric acid stones: a model development and validation study.

Coronary computed tomography angiography-derived quantitative flow ratio of stented coronary vessels: comparison with invasive fractional flow reserve.

Determination of nanoparticle density profiles using centrifugal field-flow fractionation coupled with multi-angle light scattering.

Diagnostic Consistency Tests of the Concordance Cosmology.

Related Experiment Videos

Congenital muscular dystrophy: an expanding clinical syndrome

Related Concept Videos

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