103 results match your criteria: "University of Tunis El Manar and Genomics Platform[Affiliation]"
Thiamin-Responsive PDH Deficiency due to a PDHA1 Variant.
J Pediatr Neurosci
January 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.
Is vascular compromise during stroke-like episodes primary or secondary?
Acta Neurol Belg
April 2020
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.
Vaccination triggering onset of m.8993T > G associated Leigh syndrome.
Mol Genet Metab Rep
June 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.
Causes of low muscle coenzyme-Q levels beyond primary coenzyme-Q-deficiency.
Mol Genet Metab Rep
June 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.
A beneficial effect of l-arginine for stroke-like episodes is currently unsupported.
Mol Genet Metab Rep
June 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.
Phenotypic spectrum of mutations.
Biomed Rep
August 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis 1068, Tunisia.
There is no comprehensive overview concerning the phenotypic variability in patients carrying mutations available. Therefore, the aim of the present review was to summarise and discuss recent findings concerning the clinical presentation and phenotypic heterogeneity of mutations. The study was conducted by systematically reviewing the literature using the search terms 'mitochondrial', "myopathy', 'nuclear DNA', 'mitochondrial DNA', in combination with 'SLC25A4' or 'AAC1'.
View Article and Find Full Text PDFMitochondrial ataxia is genetically and phenotypically heterogeneous.
CNS Neurosci Ther
December 2018
Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Tunis, Tunisia.
Retinal involvement in m.3243A>G carriers.
Ophthalmic Genet
October 2018
b Pasteur Institute of Tunis , University of Tunis El Manar and Genomics Platform, Tunis , Tunisia.
Letter to the Editor: Endocrine Compromise in Mitochondrial Disorders.
J Endocr Soc
June 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.
MELAS can be psychiatric and neurological.
eNeurologicalSci
June 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.
Infantile-onset deafness in m.7445A>G carriers may be multicausal.
Int J Pediatr Otorhinolaryngol
August 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.
Kearns-Sayre syndrome is genetically and phenotypically heterogeneous.
Pediatr Med Chir
May 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis.
Not available.
View Article and Find Full Text PDFMicroRNAs are inappropriate for characterising hearing impairment in mitochondrial disorders.
Orphanet J Rare Dis
May 2018
Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Tunis, Tunisia.
ISCA2 mutations manifest differentially from DARS2 mutations.
Metab Brain Dis
October 2018
Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Tunis, Tunisia.
Comment on "Role of Mitochondrial Genome Mutations in Pathogenesis of Carotid Atherosclerosis".
Oxid Med Cell Longev
January 2019
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.
Involvement of the Spinal Cord in Mitochondrial Disorders.
J Neurosci Rural Pract
January 2018
Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.
This review aims at summarising and discussing the current status concerning the clinical presentation, pathogenesis, diagnosis, and treatment of spinal cord affection in mitochondrial disorders (MIDs). A literature search using the database Pubmed was carried out by application of appropriate search terms and their combinations. Involvement of the spinal cord in MIDs is more frequent than anticipated.
View Article and Find Full Text PDFCerebellar atrophy is common among mitochondrial disorders.
Metab Brain Dis
August 2018
Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Tunis, Tunisia.
Autoimmunity in MELAS.
Ann Clin Lab Sci
March 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.
Trifunctional Protein Deficiency Due to HADHB Mutations Is a Multisystem, β-Oxidation Disorder.
Arch Iran Med
December 2017
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.
Letter to the Editor: Diagnosing Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) Requires Not Only Phenotypic But Also Genotypic Verification.
Ochsner J
January 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.
Single nucleotide mtDNA polymorphisms may contribute to cancerogenesis in mitochondrial disorders.
Environ Mol Mutagen
June 2019
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.
Polymegathism as a biomarker of mitochondrial disorders.
Graefes Arch Clin Exp Ophthalmol
June 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.
Low Heteroplasmy Rates of the m.8993T>G Variant May Not Be Pathogenic.
Am J Kidney Dis
May 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.
Ketogenic diet and avoidance of mitochondrion-toxic AEDs may improve the outcome of mitochondrial epilepsy.
Clin Neurol Neurosurg
October 2018
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia. Electronic address:
Phenotypic manifestations of the m.8969G>A variant.
Neurogenetics
May 2018
Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Tunis, Tunisia.