(Ca++ + Mg++)-ATPase of red cells in Duchenne and myotonic dystrophy

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

JIMD reports·2015

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

Journal of medical genetics·2009

Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria.

Nucleosides, nucleotides & nucleic acids·2008

A simplified and reliable assay for complex I in human blood lymphocytes.

Journal of immunological methods·2007

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

Annals of human genetics·2007

Extended thiopurine metabolite assessment during 6-thioguanine therapy for immunomodulation in Crohn's disease.

Journal of clinical pharmacology·2007

Association of Skin Denervation With Brain Atrophy and Cognitive Impairment in Patients With Parkinson Disease.

Neurology·2026

The Mechanical Penumbra in Intracerebral Hemorrhage.

Neurology·2026

Trends in Withdrawal of Life-Sustaining Treatment in Patients With Traumatic Brain Injury, 2013-2023.

Neurology·2026

Traumatic Spinal Cord Injury Mortality in the United States, 1999-2024: A Population-Based Analysis of Temporal and Demographic Trends.

Neurology·2026

Clinical Factors Associated With Discordant Plasma P-Tau217 and Established Alzheimer Disease Biomarkers.

Neurology·2026

Clinical Reasoning: A 13-Year-Old Boy With Acute-Onset Generalized Dystonia, Rostrocaudal Gradient, and Severe Bulbar Dysfunction.

Neurology·2026

FLNC-Related Cardiomyopathies in an Admixed Population: Expanding the Genotype-Phenotype Spectrum and Clinical Correlates.

Circulation. Genomic and precision medicine·2026

Endovascular Revascularization for Chronic Vertebral Artery Occlusion with Poor Collateral Circulation and a Large Perfusion Abnormality Identified by Automated Perfusion Imaging: A Case Report.

Journal of neuroendovascular therapy·2026

Procedural and Hemodynamic Outcomes of Contemporary Self-Expanding Valves for Transcatheter Aortic Valve Replacement: A Multicenter Comparison From the AMTRAC Registry.

Structural heart : the journal of the Heart Team·2026

Global strategies to improve equitable access to heart and lung transplantation- ISHLT Consortium Report.

JHLT open·2026

Cardiovascular magnetic resonance-derived left atrioventricular coupling index for predicting adverse cardiac outcomes in patients with ischemic cardiomyopathy.

International journal of cardiology. Cardiovascular risk and prevention·2026

Drosophila l(2)23CDe A8-1 and l(2)23CDf A18-2 are missense alleles of the SerRS gene.

microPublication biology·2026

Related Experiment Videos

(Ca++ + Mg++)-ATPase of red cells in Duchenne and myotonic dystrophy

Related Concept Videos

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria.

A simplified and reliable assay for complex I in human blood lymphocytes.

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

Extended thiopurine metabolite assessment during 6-thioguanine therapy for immunomodulation in Crohn's disease.

Association of Skin Denervation With Brain Atrophy and Cognitive Impairment in Patients With Parkinson Disease.

The Mechanical Penumbra in Intracerebral Hemorrhage.

Trends in Withdrawal of Life-Sustaining Treatment in Patients With Traumatic Brain Injury, 2013-2023.

Traumatic Spinal Cord Injury Mortality in the United States, 1999-2024: A Population-Based Analysis of Temporal and Demographic Trends.

Clinical Factors Associated With Discordant Plasma P-Tau217 and Established Alzheimer Disease Biomarkers.

Clinical Reasoning: A 13-Year-Old Boy With Acute-Onset Generalized Dystonia, Rostrocaudal Gradient, and Severe Bulbar Dysfunction.

FLNC-Related Cardiomyopathies in an Admixed Population: Expanding the Genotype-Phenotype Spectrum and Clinical Correlates.

Endovascular Revascularization for Chronic Vertebral Artery Occlusion with Poor Collateral Circulation and a Large Perfusion Abnormality Identified by Automated Perfusion Imaging: A Case Report.

Procedural and Hemodynamic Outcomes of Contemporary Self-Expanding Valves for Transcatheter Aortic Valve Replacement: A Multicenter Comparison From the AMTRAC Registry.

Global strategies to improve equitable access to heart and lung transplantation- ISHLT Consortium Report.

Cardiovascular magnetic resonance-derived left atrioventricular coupling index for predicting adverse cardiac outcomes in patients with ischemic cardiomyopathy.

Drosophila l(2)23CDe A8-1 and l(2)23CDf A18-2 are missense alleles of the SerRS gene.

Related Experiment Videos

(Ca++ + Mg++)-ATPase of red cells in Duchenne and myotonic dystrophy

Related Concept Videos

Related Articles