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1.
Cortical cystic lesions - A typical endpoint of a stroke-like lesion.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Brain Dev ; 43(9): 972-973, 2021 10.
Article in English | MEDLINE | ID: mdl-34176696

Subject(s)
MELAS Syndrome , Stroke , Humans , Stroke/diagnostic imaging
2.
Stroke in MELAS is a Vasogenic Edema and not Ischemic.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Basic Clin Neurosci ; 11(3): 379-380, 2020.
Article in English | MEDLINE | ID: mdl-32963730
3.
Is vascular compromise during stroke-like episodes primary or secondary?
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Acta Neurol Belg ; 120(2): 439-440, 2020 Apr.
Article in English | MEDLINE | ID: mdl-30056482

Subject(s)
Cerebrovascular Circulation/physiology , MELAS Syndrome/complications , Stroke/etiology , Humans , MELAS Syndrome/physiopathology , Stroke/physiopathology
4.
Phenotype of NDUFV1-related Disease.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
J Pediatr Neurosci ; 14(3): 175-176, 2019.
Article in English | MEDLINE | ID: mdl-31649783
5.
Suspicious MELAS Requires Genetic and Biochemical Confirmation.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
J Coll Physicians Surg Pak ; 29(8): 792-793, 2019 08.
Article in English | MEDLINE | ID: mdl-31358110

Subject(s)
MELAS Syndrome , Humans , Pedigree
6.
Management of manifesting FOXRED1 carriers is complex.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Mol Genet Metab Rep ; 19: 100463, 2019 Jun.
Article in English | MEDLINE | ID: mdl-31193306
7.
Psychosis in Leigh syndrome.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Asian J Psychiatr ; 41: 76-77, 2019 03.
Article in English | MEDLINE | ID: mdl-30954129

Subject(s)
Leigh Disease , Psychotic Disorders , Schizophrenia , Humans
8.
Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Doc Ophthalmol ; 138(3): 255-256, 2019 06.
Article in English | MEDLINE | ID: mdl-30924003

Subject(s)
MELAS Syndrome/genetics , Retinal Dystrophies , DNA, Mitochondrial , Electroretinography , Humans , Phenotype , Sequence Deletion
9.
MELAS reflects a clinical concept with heterogeneous genetic background.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Arq Neuropsiquiatr ; 77(2): 142-143, 2019 02.
Article in English | MEDLINE | ID: mdl-30810602

Subject(s)
MELAS Syndrome , Mitochondrial Myopathies , Stroke , Genetic Background , Humans
10.
Melas reflects a clinical concept with heterogeneous genetic background / A Melas reflete um conceito clínico com antecedentes genéticos heterogêneos
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Arq. neuropsiquiatr ; 77(2): 142-143, Feb. 2019.
Article in English | LILACS | ID: biblio-983883

Subject(s)
Humans , Mitochondrial Myopathies , MELAS Syndrome , Stroke , Genetic Background
11.
Single nucleotide mtDNA polymorphisms may contribute to cancerogenesis in mitochondrial disorders.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Environ Mol Mutagen ; 60(5): 463-464, 2019 06.
Article in English | MEDLINE | ID: mdl-29536588

Subject(s)
DNA, Mitochondrial , Mitochondrial Diseases , Carcinogenesis , Humans , Nucleotides , Polymorphism, Single Nucleotide
12.
Fentanyl can be mitochondrion -toxic depending on dosage and cell type.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
J Anaesthesiol Clin Pharmacol ; 35(4): 570-571, 2019.
Article in English | MEDLINE | ID: mdl-31920254
13.
Avoid valproate in patients with IARS2 mutations.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Brain Dev ; 41(1): 121, 2019 01.
Article in English | MEDLINE | ID: mdl-30098844

Subject(s)
Leigh Disease/genetics , Valproic Acid , Humans , Mutation
14.
Cystic Leucoencephalopathy in NDUFV1 Mutation: Correspondence.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Indian J Pediatr ; 86(2): 206-207, 2019 02.
Article in English | MEDLINE | ID: mdl-30155785

Subject(s)
Leukoencephalopathies , Electron Transport Complex I , Humans , Mutation , NADH Dehydrogenase/genetics
15.
Diagnosing MELAS requires clinical and genetic information.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
J Clin Neurosci ; 61: 325-326, 2019 03.
Article in English | MEDLINE | ID: mdl-30401572

Subject(s)
Acidosis, Lactic , Brain Ischemia , MELAS Syndrome , Stroke , DNA, Mitochondrial , Humans , Magnetic Resonance Spectroscopy
16.
Tinnitus is multicausal and may not only be related to DNA variants.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Eur Arch Otorhinolaryngol ; 276(5): 1551-1552, 2019 05.
Article in English | MEDLINE | ID: mdl-30306315

Subject(s)
Deafness , Hearing Loss , Tinnitus , DNA, Mitochondrial , Humans , Mitochondria
17.
Survival and outcome in MELAS not only depends on onset and disease duration.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
J Neurol Sci ; 397: 9-10, 2019 02 15.
Article in English | MEDLINE | ID: mdl-30551076

Subject(s)
Acidosis, Lactic , MELAS Syndrome , Stroke , Cohort Studies , Humans , Survival Analysis
18.
Whole exome sequencing may be insufficient to cover the causality spectrum of rhabdomyolysis.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Mol Genet Metab Rep ; 17: 18, 2018 Dec.
Article in English | MEDLINE | ID: mdl-30225195
19.
Thiamin-Responsive PDH Deficiency due to a PDHA1 Variant.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
J Pediatr Neurosci ; 13(2): 283-284, 2018.
Article in English | MEDLINE | ID: mdl-30090160
20.
Suspicion of mitochondrial disease remains frequently unconfirmed after whole exome sequencing.
Finsterer, Josef; Zarrouk-Mahjoub, Sinda.
Mol Genet Metab Rep ; 16: 66, 2018 Sep.
Article in English | MEDLINE | ID: mdl-30090701
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