Cargando…

Non-compaction is not a simple genetic disorder

Detalles Bibliográficos
Autores principales:	Finsterer, Josef, Zarrouk-Mahjoub, Sinda
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Clinics Cardive Publishing 2014
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959182/ https://www.ncbi.nlm.nih.gov/pubmed/24626514

Ejemplares similares

Acquired non-compaction in integrin-myopathy
por: Finsterer, Josef, et al.
Publicado: (2013)

Letter to the Editor: Endocrine Compromise in Mitochondrial Disorders
por: Finsterer, Josef, et al.
Publicado: (2018)

Diagnose Kearns–Sayre syndrome genetically and investigate the phenotype comprehensively
por: Finsterer, Josef, et al.
Publicado: (2016)

MicroRNAs are inappropriate for characterising hearing impairment in mitochondrial disorders
por: Finsterer, Josef, et al.
Publicado: (2018)

Treating mitochondrial disorders requires full exploitation of available therapeutic options
por: Finsterer, Josef, et al.
Publicado: (2017)

Costs for mitochondrial medicine will remain high as long as mitochondrial disorders are misdiagnosed()()()()
por: Finsterer, Josef, et al.
Publicado: (2017)

Mitochondrial multiorgan disorder syndrome (MIMODS) due to a compound heterozygous mutation in the ACAD9 gene()
por: Finsterer, Josef, et al.
Publicado: (2017)

Fibroblast growth-factor-21 is currently a weak biomarker for identifying mitochondrial and non-mitochondrial inborn errors of metabolism
por: Finsterer, Josef, et al.
Publicado: (2017)

Comment on “A Rare Case of Renal Infarct due to Noncompaction Cardiomyopathy: A Case Report and Literature Review”
por: Finsterer, Josef, et al.
Publicado: (2016)

Phenotypic Heterogeneity of the m.14459G>A Mutation
por: Finsterer, Josef, et al.
Publicado: (2017)

Mitochondrial cardioencephalopathy due to a COQ4 mutation
por: Finsterer, Josef, et al.
Publicado: (2017)

Gastrointestinal Involvement in m.3243A>G-associated MELAS
por: Finsterer, Josef, et al.
Publicado: (2017)

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 Mutation with a Normal Muscle Biopsy
por: Finsterer, Josef, et al.
Publicado: (2017)

Thiamin-Responsive PDH Deficiency due to a PDHA1 Variant
por: Finsterer, Josef, et al.
Publicado: (2018)

Heteroplasmy of the m.3243A>G Mutation May Influence Phenotypic Heterogeneity
por: Finsterer, Josef, et al.
Publicado: (2017)

A beneficial effect of l-arginine for stroke-like episodes is currently unsupported
por: Finsterer, Josef, et al.
Publicado: (2018)

Transient symmetric T2-hyperintensities of basal ganglia and brainstem not only point to Leigh syndrome
por: Finsterer, Josef, et al.
Publicado: (2016)

Specification of the Myopathy Type may Influence the Management of Noncompaction
por: Finsterer, Josef, et al.
Publicado: (2016)

Comment on “Role of Mitochondrial Genome Mutations in Pathogenesis of Carotid Atherosclerosis”
por: Finsterer, Josef, et al.
Publicado: (2018)

Traumatic brain injury is unlikely precipitating Leigh syndrome due to the GJB2 mutation c.35delG
por: Finsterer, Josef, et al.
Publicado: (2017)

Causes of low muscle coenzyme-Q levels beyond primary coenzyme-Q-deficiency
por: Finsterer, Josef, et al.
Publicado: (2018)

MELAS can be psychiatric and neurological
por: Finsterer, Josef, et al.
Publicado: (2018)

Phenotypic variability of MTO1-deficiency
por: Finsterer, Josef, et al.
Publicado: (2018)

Vaccination triggering onset of m.8993T > G associated Leigh syndrome
por: Finsterer, Josef, et al.
Publicado: (2018)

BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy
por: Finsterer, Josef, et al.
Publicado: (2018)

Suspicion of mitochondrial disease remains frequently unconfirmed after whole exome sequencing
por: Finsterer, Josef, et al.
Publicado: (2018)

Anti-mitochondrial M2 Antibodies and Myopathy
por: Finsterer, Josef, et al.
Publicado: (2017)

Noncompaction with dysmorphism, mental retardation, general wasting, and hypogonadism requires neurologic and sophisticated cytogenetic investigations
por: Finsterer, Josef, et al.
Publicado: (2015)

Whole exome sequencing may be insufficient to cover the causality spectrum of rhabdomyolysis
por: Finsterer, Josef, et al.
Publicado: (2018)

Uniform criteria for diagnosing noncompaction by cMRI and echocardiography are warranted
por: Finsterer, Josef, et al.
Publicado: (2016)

Management of manifesting FOXRED1 carriers is complex
por: Finsterer, Josef, et al.
Publicado: (2019)

Phenotype of NDUFV1-related Disease
por: Finsterer, Josef, et al.
Publicado: (2019)

Fentanyl can be mitochondrion -toxic depending on dosage and cell type
por: Finsterer, Josef, et al.
Publicado: (2019)

Psychological morbidity in Leber’s hereditary optic neuropathy depends on phenotypic, social, economic, and genetic factors
por: Finsterer, Josef, et al.
Publicado: (2017)

Detection of the mutation may guide treatment of heart and muscle in Duchenne muscular dystrophy
por: Finsterer, Josef, et al.
Publicado: (2016)

Comment to: Focal segmental glomerulosclerosis associated with mitochondrial disease by Lim et al. in Clin Nephrol Case Stud. 2017; 5: 20-25.
por: Finsterer, Josef, et al.
Publicado: (2018)

Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders
por: Finsterer, Josef, et al.
Publicado: (2017)

Impaired Hearing in Mitochondrial Disorders
por: Finsterer, Josef, et al.
Publicado: (2015)

Biomarkers for Detecting Mitochondrial Disorders
por: Finsterer, Josef, et al.
Publicado: (2018)

Carriers of POLG1 variants require investigations for multisystem disease and for mtDNA variations
por: Finsterer, Josef, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_1mt9aoaau7r6aldsr29o22cof3