Distal myopathies: clinical and molecular diagnosis and classification

Adipose invasion of muscle in Wagyu cattle: Monitoring by histology and melting temperature.

Meat science·2020

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.

Acta neuropathologica communications·2019

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.

Neurogastroenterology and motility·2018

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.

European journal of neurology·2018

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.

Annals of neurology·2015

Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.

Clinical genetics·2014

Presymptomatic plasma biomarkers in autosomal dominant Alzheimer's disease: sequence and timing.

Journal of neurology, neurosurgery, and psychiatry·2026

Balancing Benefits and Risks: Long-term Use of Daily versus Intermittent Corticosteroids in Duchenne Muscular Dystrophy.

Journal of neurology, neurosurgery, and psychiatry·2026

Epilepsy and education: a nationwide cohort study.

Journal of neurology, neurosurgery, and psychiatry·2026

Comparative effectiveness of ofatumumab and ocrelizumab in relapsing multiple sclerosis: a target trial emulation using multinational registry data.

Journal of neurology, neurosurgery, and psychiatry·2026

Iatrogenic cerebral amyloid angiopathy: a scoping review.

Journal of neurology, neurosurgery, and psychiatry·2026

Associations of self-reported and objectively measured physical activity and amyotrophic lateral sclerosis risk.

Journal of neurology, neurosurgery, and psychiatry·2026

Clinical Impact of the C-Reactive Protein-Albumin-Lymphocyte Index as a Prognostic Biomarker in Patients With Recurrent Pancreatic Cancer.

In vivo (Athens, Greece)·2026

Wearable perspiration sensor for continuous inflammation tracking in inflammatory bowel disease.

Inflammatory bowel diseases·2026

Proof-of-Concept Study of Hyperpolarized [1-13C]Pyruvate MRI in Participants with Hepatocellular Carcinoma.

Radiology. Imaging cancer·2026

Primary Biliary Cholangitis in the Middle East: A Review of Current Challenges and Treatment Approaches.

Cureus·2026

Distinct metabolomic profiles in lean and non-lean polyendocrine metabolic ovarian syndrome.

Journal of assisted reproduction and genetics·2026

First-Pass Perfusion and T1-weighted Dixon Imaging as Emerging Biomarkers of Pericardial Disease.

Radiology. Cardiothoracic imaging·2026

Related Experiment Videos

Distal myopathies: clinical and molecular diagnosis and classification

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Adipose invasion of muscle in Wagyu cattle: Monitoring by histology and melting temperature.

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.

Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.

Presymptomatic plasma biomarkers in autosomal dominant Alzheimer's disease: sequence and timing.

Balancing Benefits and Risks: Long-term Use of Daily versus Intermittent Corticosteroids in Duchenne Muscular Dystrophy.

Epilepsy and education: a nationwide cohort study.

Comparative effectiveness of ofatumumab and ocrelizumab in relapsing multiple sclerosis: a target trial emulation using multinational registry data.

Iatrogenic cerebral amyloid angiopathy: a scoping review.

Associations of self-reported and objectively measured physical activity and amyotrophic lateral sclerosis risk.

Clinical Impact of the C-Reactive Protein-Albumin-Lymphocyte Index as a Prognostic Biomarker in Patients With Recurrent Pancreatic Cancer.

Wearable perspiration sensor for continuous inflammation tracking in inflammatory bowel disease.

Proof-of-Concept Study of Hyperpolarized [1-13C]Pyruvate MRI in Participants with Hepatocellular Carcinoma.

Primary Biliary Cholangitis in the Middle East: A Review of Current Challenges and Treatment Approaches.

Distinct metabolomic profiles in lean and non-lean polyendocrine metabolic ovarian syndrome.

First-Pass Perfusion and T1-weighted Dixon Imaging as Emerging Biomarkers of Pericardial Disease.

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Distal myopathies: clinical and molecular diagnosis and classification

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