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Zarrouk-Mahjoub, PhD, Sinda
Journal of Medical Biomedical and Applied Sciences
Biochemistry, Genetics & Molecular Biology Medicine & Pharmacology

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Mitochondrial Multiorgan Disorder Syndrome (Mimods) Due To Mutations In The Slc25a46 Gene Finsterer, MD, PhD, Josef; Zarrouk-Mahjoub, PhD, Sinda
Journal of Medical Biomedical and Applied Sciences Vol 6 No 6 (2018)
Publisher : Journal of Medical Biomedical and Applied Sciences

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (94.222 KB) | DOI: 10.15520/jmbas.v6i6.119

Abstract

In a recent article, Braunisch et al. reported about 4 patients(VI-5, VI-4, II-3, II-4) with pontocerebellar hypoplasia(PCH) due to mutations in the SLC25A46 gene1. We havethe following comments and concerns
Phenotypic Spectrum And Age Distribution of SLC25A4 Mutations Finsterer, MD, PhD, Josef; Zarrouk-Mahjoub, PhD, Sinda
Journal of Medical Biomedical and Applied Sciences Vol 6 No 7 (2018)
Publisher : Journal of Medical Biomedical and Applied Sciences

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (153.81 KB) | DOI: 10.15520/jmbas.v6i7.125

Abstract

In a recent article, Thompson et al. reported about seven patients carrying the heterozygous mutations c.239G>A (4 patients) and c.703C>G (3 patients) in the SLC25A4 gene, clinically manifesting with severe mitochondrial DNA depletion syndrome1. All patients were born with respiratory insufficiency requiring artificial ventilation since birth1. We have the following comments and concerns.
Does 3D pASP truly reflect hyperperfusion in stroke-like lesions? Finsterer, MD, PhD, Josef; Zarrouk-Mahjoub, PhD, Sinda
Journal of Medical Biomedical and Applied Sciences Vol 6 No 7 (2018)
Publisher : Journal of Medical Biomedical and Applied Sciences

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (101.884 KB) | DOI: 10.15520/jmbas.v6i7.128

Abstract

In a recent article, Li et al. reported about the application of3D pseudocontinuous arterial spin labelling (3D pCASL) to9 patients with mitochondrial encephalopathy, lactacidosis,and stroke-like episodes (MELAS) syndrome within onemonth after onset of a stroke-like episode (SLE)1 . 3DpCASL revealed hyperperfusion during the acute andsubacute stage of a SLE in all 9 MELAS patients1 . We havethe following comments and concerns.
Mitochondrial neuropathy in pediatric patients carrying mtDNA, POLG1, SURF1, and PDHA1 mutations Finsterer, MD, PhD, Josef; Zarrouk-Mahjoub, PhD, Sinda
Journal of Medical Biomedical and Applied Sciences Vol 6 No 9 (2018)
Publisher : Journal of Medical Biomedical and Applied Sciences

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (102.079 KB) | DOI: 10.15520/jmbas.v6i9.150

Abstract

see the pdf.
Postnatal Prognosis of Fetal Noncompaction Is Uncertain In Sibs Carrying a PKP2 Deletion Finsterer, MD, PhD, Josef; Zarrouk-Mahjoub, PhD, Sinda
Journal of Medical Biomedical and Applied Sciences Vol 6 No 9 (2018)
Publisher : Journal of Medical Biomedical and Applied Sciences

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (87.436 KB) | DOI: 10.15520/jmbas.v6i9.151

Abstract

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Do Focal Seizures Trigger Bilateral Stroke-Like Episodes Which Manifest As Transient Cortical Deafness? Finsterer, MD, PhD, Josef; Zarrouk-Mahjoub, PhD, Sinda
Journal of Medical Biomedical and Applied Sciences Vol 6 No 10 (2018)
Publisher : Journal of Medical Biomedical and Applied Sciences

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (74.487 KB) | DOI: 10.15520/jmbas.v6i10.158

Abstract

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Co-Authors Finsterer, MD, PhD, Josef