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List of works by Sinda Zarrouk Mahjoub

A MELAS phenotype is not necessarily MELAS.

scientific article published on 21 December 2016

A beneficial effect of l-arginine for stroke-like episodes is currently unsupported

scientific article published on 26 February 2018

A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

scientific article

Acquired non-compaction in integrin-myopathy

scientific article published on 20 November 2013

Acute heart failure from noncompaction requiring emergency heart transplantation

scientific article published on 02 August 2016

Affection of immune cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome.

scientific article

Affection of the frontal lobe in Leigh syndrome due to the m.8993T>G mutation.

scientific article published on 12 May 2016

Anti-mitochondrial M2 Antibodies and Myopathy.

scientific article published on 27 December 2017

Arrhythmias in MELAS syndrome

scientific article published on 14 April 2016

Assessment of the phenotype genotype variability and correlation in m.3243A > G mutation carriers requires prospective studies.

scientific article published on 9 July 2016

Avoid mitochondrion-toxic antiepileptic drugs in glycine encephalopathy.

scientific article published on 4 September 2017

Axonal hyperexcitability due to Schwann cell involvement in chronic progressive external ophthalmoplegia.

scientific article published on 31 July 2017

BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy

scientific article published on 22 February 2018

Biomarkers for Detecting Mitochondrial Disorders.

scientific article published on 30 January 2018

Can MR spectroscopy and muscle biopsy findings be correlated with MELAS and CPEO?

scientific article published on 29 August 2017

Causes of low muscle coenzyme-Q levels beyond primary coenzyme-Q-deficiency

scientific article published on 05 April 2018

Cerebral involvement in mitochondrial disorders on imaging

scientific article published on 9 September 2016

Clozapine for mitochondrial psychosis.

scientific article published on 4 January 2017

Comment to the manuscript by Bacalhau et al. on "In silico prediction is insufficient to assess pathogenicity of mtDNA variants".

scientific article

Compound heterozygous fukutin mutation-related non-compaction.

scientific article published in April 2017

Compound heterozygous myotonic dystrophy type 1

scientific article published on 22 May 2015

Consider a Nongenetic Pathogenesis of Noncompaction.

scientific article published on 13 August 2015

Consider a mitochondrial disorder when left ventricular hypertrabeculation/noncompaction is associated with renal cysts

scientific article published in December 2014

Considerations about the genetics of left ventricular hypertrabeculation/non-compaction

scientific article published on 22 June 2015

Corneal Involvement in Kearns-Sayre Syndrome Responsive to Coenzyme-Q?

scientific article published on 12 October 2016

Correction to: Contribution of the MRPS22 variant and a Down mosaic to the phenotype.

scientific article published on 18 October 2017

Correspondence

Costs for mitochondrial medicine will remain high as long as mitochondrial disorders are misdiagnosed.

scientific article

Death in Pediatric Mitochondrial Disorders.

scientific article

Detection of the mutation may guide treatment of heart and muscle in Duchenne muscular dystrophy

scientific article published on 3 March 2016

Diagnose Kearns–Sayre syndrome genetically and investigate the phenotype comprehensively.

scientific article published on 29 August 2016

Diagnosing Kearns-Sayre Syndrome Requires Genetic Confirmation.

scientific article published on January 2016

Diagnosis of Kearns-Sayre Syndrome Requires Comprehensive Work-up

scientific article published on January 2016

Differentiating acute ischemic lesions from mitochondrial stroke-like lesions on 3D pseudo-continuous arterial spin labelling.

scientific article published on 10 August 2016

Do lesional perfusion abnormalities on arterial spin labeling truly contribute to the diagnosis of Leigh syndrome?

scientific article published on 8 November 2016

Double trouble progressive external ophthalmoplegia and Huntington's disease

scientific article published on 19 April 2016

Epilepsia partialis continua in MELAS/Leigh overlap syndrome.

scientific article published on 30 November 2016

Epilepsy and noncompaction

scientific article

Epilepsy in MELAS.

scientific article

Epilepsy in mitochondrial disorders.

scientific article published on 27 March 2012

Fibroblast growth-factor-21 is currently a weak biomarker for identifying mitochondrial and non-mitochondrial inborn errors of metabolism.

scientific article

Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients

scientific article published on 30 January 2015

Frequency of Headache in Mitochondrial Disorders.

scientific article published in February 2018

Fukutin mutations in Fukuyama congenital muscular dystrophy do not cause noncompaction.

scientific article published on 28 September 2016

Gastrointestinal Involvement in m.3243A>G-associated MELAS.

scientific article published on 20 November 2017

Grant et al. 1926 did not provide the first description of left ventricular hypertrabeculation/noncompaction.

scientific article

Headache in mitochondrial disorders.

scientific article published on 26 January 2018

Hearing impairment in m.3243A>G carriers requires comprehensive work- and follow-up

scientific article published on 31 August 2016

Heteroplasmy of the m.3243A>G Mutation May Influence Phenotypic Heterogeneity

scientific article published on 11 October 2017

Hypertrabeculation Is Noncompaction Also in Athletes.

scientific article

Hypogonadism in mitochondrial disorders.

scientific article

Impaired Hearing in Mitochondrial Disorders.

scientific article published on July 2015

Implications of non-compaction in association with respiratory chain complex-I deficiency.

scientific article published on 18 November 2014

In the heart of MELAS syndrome

scientific article published on 7 April 2016

Increased mtDNA Copy Number Does Not Protect Against LHON.

scientific article published in January 2018

Increased prevalence of non-compaction

scientific article published on 27 June 2013

Involvement of the Spinal Cord in Mitochondrial Disorders.

scientific article published in April 2018

Involvement of the cerebral veins in MELAS syndrome?

scientific article published on 18 July 2017

Is chronic fatigue syndrome truly associated with haplogroups or mtDNA single nucleotide polymorphisms?

scientific article published on 18 June 2016

Is vatiquinone truly beneficial for Leigh syndrome?

scientific article published on 17 October 2017

Kearns-Sayre syndrome in the absence of a mtDNA deletion?

scientific article published in December 2017

Ketogenic diet and avoidance of mitochondrion-toxic AEDs may improve the outcome of mitochondrial epilepsy

scientific article published on 22 February 2018

Lamin A/C mutations do not cause left ventricular hypertrabeculation/noncompaction.

scientific article published on June 2015

Leber's hereditary optic neuropathy is multiorgan not mono-organ

scientific article

Left ventricular hypertrabeculation/noncompaction in hyperoxaluria.

scientific article

Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation

scientific article published on 24 April 2014

Leigh-like syndrome due to OPA1 mutations

scientific article published on 5 July 2017

Letter by Finsterer and Zarrouk-Mahjoub Regarding Article, "Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventric

scientific article

Letter to the Editor: Maternally Inherited Diabetes and Deafness is Not Only Biorgan but Multiorgan

scientific article published on 29 September 2017

Letter to the Editor: Posterior spinal instrumented fusion for idiopathic scoliosis in patients with multisystemic neurodegenerative disorder: a report of two cases

scientific article published on 01 December 2016

Leukoencephalopathies in mitochondrial disorders: clinical and MRI findings.

scientific article

Levels of nitric oxide pathway parameters may depend on heteroplasmy rates of the m.3243A>G mutation.

scientific article

Low Heteroplasmy Rates of the m.8993T>G Variant May Not Be Pathogenic

scientific article published on 03 March 2018

Low blood heteroplasmy-rate may cause late-onset MELAS.

scientific article published on 04 February 2017

MELAS can be psychiatric and neurological.

scientific article published on 13 April 2018

MELAS syndrome due to the m.3291T > C mutation

scientific article published on 13 April 2016

MELAS/Leigh overlap syndrome due to the ND6 mutation m.10158T>C.

scientific article published on 15 May 2017

Macroangiopathy is a typical phenotypic manifestation of MELAS.

scientific article published on 2 May 2017

Management of epilepsy in MERRF syndrome

scientific article

Management of juvenile stroke from noncompaction with muscular dystrophy.

scientific article published on 24 February 2015

Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset.

scientific article

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 Mutation with a Normal Muscle Biopsy.

scientific article

Mitochondrial cardioencephalopathy due to a COQ4 mutation.

scientific article published on 13 July 2017

Mitochondrial disorders due to tRNA(Pro) mutations.

scientific article

Mitochondrial epilepsy in pediatric and adult patients ⬇️

scientific article published on 09 March 2013

Mitochondrial movement disorders.

scientific article

Mitochondrial multiorgan disorder syndrome (MIMODS) due to a compound heterozygous mutation in the ACAD9 gene.

scientific article published on 28 July 2017

Mitochondrial myopathy, dysmorphism, exercise-induced vomiting and tachycardia the mutation m.4831G > A

scientific article published on 13 May 2017

Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both

scientific article published on 9 June 2016

Mitochondrial tRNA glutamine variant in hypertrophic cardiomyopathy.

scientific article

Mitochondrial tRNA mutations manifest not only as hypertrophic cardiomyopathy but also as noncompaction

scientific article published on 08 May 2014

Mitochondrial toxicity of antiepileptic drugs and their tolerability in mitochondrial disorders.

scientific article published on 07 December 2011

Mitochondrial toxicity of cardiac drugs and its relevance to mitochondrial disorders.

scientific article

Mitochondrial vasculopathy due to the m.3243A > G mutation is not restricted to the carotid artery.

scientific article published on 8 October 2016

Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants.

scientific article published on 19 February 2018

ND2 mutation with minimal coenzyme-Q responsive manifestations.

scientific article published on 20 January 2017

NDUFS4-related Leigh syndrome in Hutterites.

scientific article

Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome?

scientific article published on 13 September 2016

Nitric Oxide Deficiency Triggering Strokelike Episodes.

scientific article

Non-compaction can be congenital, muscular, or compensatory

scientific article published on 01 January 2016

Noncompaction and scleroderma.

scientific article published in March 2016

Noncompaction in Duchenne Muscular Dystrophy

scientific article published on 01 May 2016

Noncompaction in Fabry's disease

scientific article published on 03 April 2015

Noncompaction with dysmorphism, mental retardation, general wasting, and hypogonadism requires neurologic and sophisticated cytogenetic investigations.

scientific article published in May 2015

Noncompaction with valve abnormalities is rarely associated with neurologic or genetic disease.

scientific article published on 25 September 2015

Onset of MELAS due to the m.3243A > G mutation is early if the large phenotypic variability is considered

scientific article published on 12 December 2016

Ophthalmologic involvement in Leigh syndrome.

scientific article

Ophthalmologic involvement in mitochondrial disorders

scientific article published on 18 July 2016

POLG1 mutations in bipolar disorders.

scientific article

Pathogenicity of the Homoplasmic m.8701A>G Variant Requires Confirmation

scientific article published on January 2016

Pathogenicity of the LHON variant m.3472T>C is uncertain.

scientific article published on 30 September 2017

Pathogenicity of the transition m.3308T>C in left ventricular hypertrabeculation/noncompaction

scientific article published on 07 July 2012

Peculiarities of progressive external ophthalmoplegia due to single mitochondrial DNA deletions

scientific article

Penetrance of the LHON Mutation m.11778G>A May Depend on Factors Other Than the Haplotype or Heteroplasmy Rate

scientific article published in January 2018

Phenotypic and Genotypic Heterogeneity of RRM2B Variants.

scientific article

Phenotypic and genotypic features in pediatric and adult mitochondrial disorders

scientific article published on 27 March 2017

Phenotypic heterogeneity of MELAS

scientific article

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation.

scientific article published on 23 December 2016

Phenotypic manifestations of the m.8969G>A variant.

scientific article

Phenotypic spectrum of DARS2 mutations.

scientific article

Phenotypic spectrum of the m.8344A>G mutation.

scientific article published on 28 April 2016

Phenotypic variability of MTO1-deficiency

scientific article published on 28 January 2018

Polymegathism as a biomarker of mitochondrial disorders

scientific article published on 13 March 2018

Prevalence and Outcome of Mitochondrial Epilepsy.

scientific article published on 11 July 2016

Pro- and anti-inflammatory cytokines in post-infarction left ventricular remodeling.

scientific article published on 5 July 2016

Psychological morbidity in Leber's hereditary optic neuropathy depends on phenotypic, social, economic, and genetic factors

scientific article published on 22 May 2017

Pulmonary hypertension in mitochondrial disorders.

scientific article published on 23 August 2012

Re: Feuer et al.: Gene therapy for Leber hereditary optic neuropathy: initial results (Ophthalmology 2016;123:558-70).

scientific article published in July 2016

Re: Guy et al.: Gene therapy for Leber hereditary optic neuropathy: low-and medium-dose visual results (Ophthalmology. 2017;124:1621-1634).

scientific article published in February 2018

Reduced Bone Mineral Density in m.3243A>G Carriers May Be Multifactorial.

scientific article

Regional cerebral hyperperfusion: A biomarker of upcoming stroke-like episodes?

scientific article

Serious assessment of mtDNA variants is a prerequisite to confirm pathogenicity.

scientific article published on 24 August 2017

Single nucleotide mtDNA polymorphisms may contribute to cancerogenesis in mitochondrial disorders

scientific article published on 14 March 2018

Spectrum of Movement Disorders in Mitochondrial Disorders.

scientific article

Striatal necrosis due to the m.14459G>A mutation.

scientific article published on 5 July 2017

The Cerebellum Is a Common Site of Affection in Leigh Syndrome.

scientific article

The Eye on Mitochondrial Disorders.

scientific article published on 14 August 2015

The cerebellum is a common site of affection in Leigh syndrome.

scientific article

Transient symmetric T2-hyperintensities of basal ganglia and brainstem not only point to Leigh syndrome.

scientific article published on July 2016

Treating mitochondrial disorders requires full exploitation of available therapeutic options.

scientific article published on 17 October 2017

Treatment of muscle weakness in neuromuscular disorders

scientific article published on 4 July 2016

Uniform criteria for diagnosing noncompaction by cMRI and echocardiography are warranted.

scientific article published on November 2015

Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia.

scientific article published on 24 March 2017

Unusual myocardial late gadolinium enhancement in isolated noncompaction cardiomyopathy.

scientific article published in April 2015

Unusual recovery of respiratory chain complex-III deficiency upon G-tube feeding and a cocktail.

scientific article published on 6 May 2016

Variants m.13276G>A in the MT-ND5 and m.8241T>G in the MT-CO2 gene are not responsible for maternally inherited diabetes and deafness

scientific article published on 4 August 2017

Why does Leigh syndrome respond to immunotherapy?

scientific article

[Mitochondrial disorders require a comprehensive perioperative management]

scientific article published on 01 June 2016

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