A novel nonsense mutation in the human dystrophin gene

Long-term treatment with subcutaneous immunoglobulin in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a follow-up period up to 7 years.

Scientific reports·2020

Serial scanning with 99mTc-3, 3-diphosphono-1, 2-propanodicarboxylic acid (99mTc-DPD) for early detection of cardiac amyloid deposition and prediction of clinical worsening in subjects carrying a transthyretin gene mutation.

Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology·2019

The expanding role of endobronchial ultrasound in patients with centrally located intrapulmonary tumors.

Lung cancer (Amsterdam, Netherlands)·2019

Oral field cancerization: history and future perspectives.

Pathologica·2017

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

Neuropathology and applied neurobiology·2017

Clonal analysis as a prognostic factor in multiple oral squamous cell carcinoma.

Oral oncology·2017

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Human mutation·2026

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

Human mutation·2026

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

Human mutation·2026

CDKN3, PKP2, ADM, MS4A1, FAM83A, and DKK1 Define a Posttranslational Modification (PTM)-Associated Prognostic Model for Lung Adenocarcinoma.

Human mutation·2026

Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders.

Human mutation·2026

Type III Osteogenesis Imperfecta and COL1A1 Pathological Variants Are Associated With Higher Incidence and Progression of Hearing Loss.

Human mutation·2026

The Prevalence of Neuropathic Pain in Multiple Sclerosis-A Systematic Review and Meta-Analysis Using the NeuPSIG Algorithm.

European journal of pain (London, England)·2026

Mitophagy in neuronal health and disease: from mechanisms to neurodegeneration.

The Journal of clinical investigation·2026

The Association Between NT-Pro BNP, Nephropathy and Endothelial Dysfunction in Patients With Type 2 Diabetes Mellitus.

Diabetes, obesity & metabolism·2026

Concurrent sigmoid volvulus and caecal adenocarcinoma in a paraplegic patient with neurogenic bowel: a case report.

Journal of surgical case reports·2026

Comparative Efficacy of Invasive and Non-Invasive Neuromodulation Techniques for Chronic Central and Peripheral Neuropathic Pain: A Systematic Review and Network Meta-Analysis.

Journal of pain research·2026

Predicting disease progression in progressive cerebellar ataxias: integrating clinical, imaging, fluid, genetic, and digital biomarkers.

Frontiers in neurology·2026

Related Experiment Videos

A novel nonsense mutation in the human dystrophin gene

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Long-term treatment with subcutaneous immunoglobulin in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a follow-up period up to 7 years.

Serial scanning with 99mTc-3, 3-diphosphono-1, 2-propanodicarboxylic acid (99mTc-DPD) for early detection of cardiac amyloid deposition and prediction of clinical worsening in subjects carrying a transthyretin gene mutation.

The expanding role of endobronchial ultrasound in patients with centrally located intrapulmonary tumors.

Oral field cancerization: history and future perspectives.

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

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A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

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Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders.

Type III Osteogenesis Imperfecta and COL1A1 Pathological Variants Are Associated With Higher Incidence and Progression of Hearing Loss.

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The Association Between NT-Pro BNP, Nephropathy and Endothelial Dysfunction in Patients With Type 2 Diabetes Mellitus.

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A novel nonsense mutation in the human dystrophin gene

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