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Finsterer, MD, PhD, Josef
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Riboflavin Is Ineffective For Maternally Inherited Mitochondrial Disease Finsterer, MD, PhD, Josef; Mahjoub, PhD, Sinda Zarrouk
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 (95.894 KB) | DOI: 10.15520/jmbas.v6i6.117

Abstract

With interest we read the article by Darin et al. about 13members of a family carrying the m.3250T>C mutation inthe tRNA(Leu) gene on the mitochondrial DNA1. Two ofthese patients were systematically treated with riboflavin butwithout a beneficial effect1. We have the followingcomments and concerns.
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.
Left ventricular hypertrabeculation /noncompaction in 3-HMG coenzyme A lyase deficiency Finsterer, MD, PhD, Josef
Journal of Medical Biomedical and Applied Sciences Vol 6 No 8 (2018)
Publisher : Journal of Medical Biomedical and Applied Sciences

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (75.546 KB) | DOI: 10.15520/jmbas.v6i8.142

Abstract

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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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Familial Noncompaction In Holt-Oram Syndrome Finsterer, MD, PhD, Josef; Stöllberger, MD, Claudia
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 (74.283 KB) | DOI: 10.15520/jmbas.v6i9.156

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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MELAS and its peculiarities Finsterer, MD, PhD, Josef; Maeztu, MD, PhD, Concepción
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 (112.038 KB) | DOI: 10.15520/jmbas.v6i10.160

Abstract

See the pdf
Co-Authors Frank, MD, Marlies Maeztu, MD, PhD, Concepción Mahjoub, PhD, Sinda Zarrouk Stöllberger, MD, Claudia Zarrouk-Mahjoub, PhD, Sinda