Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family

X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.

Journal of neurology·2026

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Journal of neurology·2025

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.

Journal of neurology·2022

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.

Journal of neurology·2021

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.

Acta neuropathologica·2020

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Journal of neurology·2017

Diagnosis, Treatment, and Prognosis of Cerebral Venous Thrombosis.

Neurology·2026

Vascular Imaging Features and Time-Specific Recurrence Risk After Craniocervical Artery Dissection.

Neurology·2026

Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.

Neurology·2026

Factor XIa Inhibitors for Secondary Prevention After Noncardioembolic Stroke: A Systematic Review and Meta-Analysis.

Neurology·2026

Longitudinal EEG, Seizure, and Developmental Patterns in Children With CDKL5 Deficiency Disorder in the First 2 Years of Life.

Neurology·2026

Linking Military Blast Exposure to Veterans Health Administration Diagnoses: Chronic Health Outcomes in the Millennium Cohort Study.

Neurology·2026

Cholesterol-Mediated Modulation of Collecting Lymphatic Vessel Contractility: Exploring Cholesterol Depletion as a Therapeutic Alternative to Improve Lymphatic Function in Hypercholesterolemia.

bioRxiv : the preprint server for biology·2026

Identification of novel and known variants in GAA, MYH6, NEXN, ATA3A, RHBDF1, and ACTA1 genes in coronary artery disease patients by Whole-exome sequencing.

Frontiers in cardiovascular medicine·2026

Association between COVID-19 and exacerbation of allergic skin diseases: A retrospective questionnaire-based cross-sectional study in Western China.

Medicine·2026

Causal effects of circulating cathepsins on cholecystitis, cholelithiasis, primary biliary cholangitis, primary sclerosing cholangitis, acute pancreatitis, and chronic pancreatitis: A Mendelian randomization study.

Medicine·2026

National trends in heart failure and hyperlipidemia related mortality in the United States, 1999-2024: Demographic and regional disparities with machine learning based forecasting to 2035.

Medicine·2026

Association between pericoronary CT fat attenuation index and coronary artery spasm.

Medicine·2026

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Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family

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X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Diagnosis, Treatment, and Prognosis of Cerebral Venous Thrombosis.

Vascular Imaging Features and Time-Specific Recurrence Risk After Craniocervical Artery Dissection.

Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.

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Longitudinal EEG, Seizure, and Developmental Patterns in Children With CDKL5 Deficiency Disorder in the First 2 Years of Life.

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Cholesterol-Mediated Modulation of Collecting Lymphatic Vessel Contractility: Exploring Cholesterol Depletion as a Therapeutic Alternative to Improve Lymphatic Function in Hypercholesterolemia.

Identification of novel and known variants in GAA, MYH6, NEXN, ATA3A, RHBDF1, and ACTA1 genes in coronary artery disease patients by Whole-exome sequencing.

Association between COVID-19 and exacerbation of allergic skin diseases: A retrospective questionnaire-based cross-sectional study in Western China.

Causal effects of circulating cathepsins on cholecystitis, cholelithiasis, primary biliary cholangitis, primary sclerosing cholangitis, acute pancreatitis, and chronic pancreatitis: A Mendelian randomization study.

National trends in heart failure and hyperlipidemia related mortality in the United States, 1999-2024: Demographic and regional disparities with machine learning based forecasting to 2035.

Association between pericoronary CT fat attenuation index and coronary artery spasm.

Related Experiment Videos

Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family

Related Concept Videos

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