Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders-Reference-Cited by-同舟云学术

Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders

Published:2017-04-04 Issue:5 Volume:56 Page:868-872
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Cruz Simão¹,Taipa Ricardo²,Nogueira Célia³,Pereira Cristina³,Almeida Lígia S.³,Neiva Raquel³,Geraldes Tiago⁴,Guimarães António²,Melo‐Pires Manuel²,Vilarinho Laura³

Affiliation:

1. Neurology DepartmentHospital Prof. Doutor Fernando FonsecaIC 19, 2720‐276, Amadora Portugal

2. Neuropathology UnitHospital Santo António / Centro Hospitalar do PortoPorto Portugal

3. Newborn screening, Metabolism and Genetics Unit, Human Genetics DepartmentDr. Ricardo Jorge National Health InstitutePorto Portugal

4. Neurology DepartmentHospital Garcia de OrtaAlmada Portugal

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.25593

Reference26 articles.

1. Contribution of muscle biopsy and genetics to the diagnosis of chronic progressive external opthalmoplegia of mitochondrial origin

2. Phenotype variability in 130 adult patients with respiratory chain disorders

3. Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease

4. Mitochondrial encephalomyopathies: an update

5. Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations

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1. Phenotyping mitochondrial DNA‐related diseases in childhood: A cohort study of 150 patients;European Journal of Neurology;2023-04-25

2. Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort;Mitochondrion;2019-11

3. Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease;Journal of Clinical Medicine;2019-01-10

4. Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort;Mitochondrion;2019-01

5. Reply;Muscle & Nerve;2017-04-12