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List of works by Josef Finsterer

ADVERSE REACTION TO ANESTHESIA IN A M.8993T>C CARRIER WITH LEIGH SYNDROMELEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATIONAnesthetic considerations in patients with mitochondrial defectsMitochondrial disease and anesthesiaGeneral anesth

scientific article published on 01 January 2019

Accuracy of clinical and electrophysiological criteria for diagnosing amyotrophic lateral sclerosis

scientific article published on 22 April 2016

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

scientific article published on 12 May 2016

Allergy to transdermal fentanyl resulting in Staphylococcus aureus sepsis and fatal endocarditis with myocardial rupture.

scientific article

Antiepileptics and NO-precursors may be beneficial for stroke-like episodes

Aortic root ectasia as a phenotypic feature of a mitochondrial disorder

scientific article published on 17 June 2018

Arrhythmias in MELAS syndrome

scientific article published on 14 April 2016

Assessing the effect of non-invasive ventilation on cardiac function in Duchenne muscular dystrophy requires prospective studies

scientific article published on 21 April 2020

Assessment of the idebenone effect on LHON eyes requires high-quality studies

scientific article published on 06 April 2020

Attributing increased prevalence of facial palsy to SARS-CoV-2 requires evidence

scientific article published on 13 December 2020

Autonomic dysfunction may not be the only cause of SUDEP

scientific article published on 23 September 2020

Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C

scientific article published on 01 June 2019

Barth syndrome: mechanisms and management.

scientific article published on 5 June 2019

Before attributing CPEO and ptosis to the variant m.14819T>G its pathogenicity needs to be established

scientific article published on 25 April 2019

Bulbospinal muscular atrophy (Kennedy disease) responsive to immunoglobulins?

scientific article published on 23 April 2020

COVID-19 polyradiculitis in 24 patients without SARS-CoV-2 in the cerebro-spinal fluid

scientific article published on 04 June 2020

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

scientific article published on 29 August 2017

Cardiac disease in mitochondrial disorders

scientific article published on 28 October 2020

Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease

scientific article published on 12 March 2017

Causes of hypogeusia/hyposmia in SARS-CoV2 infected patients

scientific article published on 20 April 2020

Central nervous system abnormalities in spinal and bulbar muscular atrophy (Kennedy's disease)

scientific article published on 20 July 2019

Cerebellar stroke-like lesions in Leigh syndrome due to the variant m.8993T>C in MT-ATP6

scientific article published on 12 August 2019

Cerebral imaging in adult mitochondrial disorders

scientific article published on 10 July 2019

Comment on "A Rare Case of Renal Infarct due to Noncompaction Cardiomyopathy: A Case Report and Literature Review".

scientific article published on September 2016

Comment on "CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions"

scientific article published on 07 March 2020

Comment on "Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene"

scientific article published on 01 July 2019

Comment on "Role of Mitochondrial Genome Mutations in Pathogenesis of Carotid Atherosclerosis".

scientific article published on 28 March 2018

Comment on "Ventricular non-compaction cardiomyopathy: prenatal diagnosis and pathology"

scientific article published on 01 February 2016

Comment on APLAR Grand Round: Phenotypes of single mtDNA deletions may unequivocally suggest mitochondrial disease

scientific article published on 13 May 2019

Comment on Progression of Retinopathy Secondary to Maternally Inherited Diabetes and Deafness: Evaluation of Predicting Parameters

scientific article published on 28 April 2020

Comment on: Factors Affecting Generalization of Ocular Myasthenia Gravis in Patients With Positive Acetylcholine Receptor Antibodies

scientific article published on 18 November 2019

Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders: The phenotypic spectrum of PUS1 and COX10 variants and mtDNA deletions needs to be prospectively assessed

scientific article published on 08 August 2019

Comments on: Isolated Nonocompaction Suggests Subclinical Myopathy

scientific article published on 20 February 2019

Concerns about idarucizumab for dabigatran reversal

scientific article published on 01 June 2016

Confirmation of stroke-like lesions on magnetic resonance imaging is a prerequisite for their histopathological assessment

scientific article published on 04 October 2019

Congenital nystagmus, disability, visual impairment, and noncompaction suggest hereditary disease

scientific article published on 02 December 2019

DYSPHAGIA, DEHYDRATION AND PREMATURE MORTALITY IN PARKINSON DISEASE

scientific article published in 2022

Detection of compound heterozygous variants in LPIN1 does not necessarily imply pathogenicity in a patient with rhabdomyolysis

scientific article published on 13 January 2020

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

scientific article published on 3 March 2016

Diagnostic and therapeutic aspects of Leigh syndrome due to the variant m.10197G>A

scientific article published on 03 April 2019

Does SARS-CoV-2 truly cause infectious myopathy?

scientific article published on 01 September 2020

Doping May Be Responsible forDe Novo Mitochondrial Disorder

scientific article published on 01 June 2019

Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity

scientific article published on 07 May 2020

Double trouble progressive external ophthalmoplegia and Huntington's disease

scientific article published on 19 April 2016

Early white matter changes on diffusion tensor imaging in amyotrophic lateral sclerosis

scientific article published on 08 July 2020

Early-age Ndufs4 knockout mice are an inappropriate animal model of Leigh syndrome

scientific article published on 01 April 2019

Elucidation of the genetic background in familial multiple sclerosis requires genetic work-up

scientific article published on 12 July 2019

Energy requirements in m.3243A>G carriers depend on multiple factors

scientific article published on 12 October 2020

Evidence for laminar cortical necrosis as histological equivalent of a non-classical stroke-like lesion in an m.8344A>G carrier

scientific article published on 24 May 2019

Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome

scientific article published on 25 September 2020

Extensive clinical and genetic workup is worthwhile in patients with Leigh-like syndrome due to the TSFM variant c.547G>A

scientific article published on 03 August 2019

Factors Influencing Central Nervous System Abnormalities in m.11778G>A Carriers

scientific article published on 03 August 2020

Factors determining the early beneficial effect of unilateral gene therapy in Leber's hereditary optic neuropathy patients carrying variant m.11778G>A

scientific article published on 07 April 2020

Familial accumulation of sudden cardiac deaths and the LMNA variant c.868G>A (p.Glu290Lys)

scientific article published on 13 April 2016

Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS

scientific article published on 01 April 2019

Genetic work-up of hereditary spastic paraplegias is crucial for classifying these disorders

scientific article published on 05 September 2019

Genetic, Myopathic, and Diagnostic Implications of Left Ventricular Noncompaction

scientific article published on 01 February 2016

Genotypic and Phenotypic Heterogeneity of LGMD1D due to Mutations

Glucocorticoids for treating Takotsubo syndrome?

scientific article published on 04 March 2016

Hereditary transthyretin-related amyloidosis

scientific article published on 23 October 2018

Heterogeneous Manifestation of <i>POLG1</i> Variants: Heterogeneity of <i>POLG1</i> Phenotypes

scientific article published in 2022

Heterogeneous pathogenesis of mitochondrial neuropathy

scientific article published on 01 June 2016

Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number

scientific article published on 01 November 2020

Impaired hearing following SARS-CoV-2 vaccinations

scientific article published in 2022

In Reference to Impact of Fiberoptic Endoscopic Evaluation of Swallowing Outcomes and Dysphagia Management in Neurodegenerative Diseases

scientific article published on 08 October 2020

In the heart of MELAS syndrome

scientific article published on 7 April 2016

Infantile-onset deafness in m.7445A>G carriers may be multicausal

scientific article published on 14 June 2018

Insular cortex lesions are not the only culprit in Takotsubo syndrome

scientific article published on 19 November 2018

Intensification of an Essential Tremor by SARS-CoV-2

scientific article published in 2022

Is autonomous neuropathy responsible for Takotsubo syndrome?

scientific article published on 24 February 2016

Is the spinal cord truly affected in half of the patients with Kearns-Sayre syndrome?

scientific article published on 12 August 2020

Is the variant m.9176T>C in MT-ATP6 truly responsibly for Leigh syndrome?

scientific article published on 19 July 2020

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

scientific article published in December 2017

Ketogenic diet in ATAD3A mutation carriers may not improve cerebellar atrophy but some clinical features [Letter]

scientific article published on 05 August 2019

Lactose-free diet inducing aseptic pancreatitis and myoclonic jerks in late-onset, putative MERRF syndrome

scientific article published on 25 January 2016

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

scientific article

Left Ventricular Noncompaction Syndrome: Genetic Insights and Therapeutic Perspectives

scientific article published on 09 July 2020

Letter to the Editor: Comments on "Obesity associated with a novel mitochondrial tRNACys m.5802A>G mutation in a Chinese family"

scientific article published on 01 February 2020

Liability of sepsis is hardly determined by the COXI variant m.6459T>C

scientific article published on 18 October 2018

Low heteroplasmy rates in clinically affected m.3243A > G carriers not necessarily explain the phenotype

scientific article published on 05 December 2019

MELAS Missed for Years: Stroke-Like Lesions Are No Indication for Brain Biopsy

scientific article published on 27 December 2019

MELAS can be psychiatric and neurological.

scientific article published on 13 April 2018

MELAS or more

scientific article published on 01 March 2016

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

scientific article published on 13 April 2016

Maternal transmission of CNTN6 copy number variation suggests mitochondrial disorder

scientific article published on 23 November 2018

Maternally Inherited Diabetes and Deafness is Phenotypically and Genotypically Heterogeneous.

scientific article

Metabolic stroke or stroke-like lesion: Peculiarities of a phenomenon

scientific article published on 07 February 2020

Methyl-DOPA causing reversible peripheral facial palsy

scientific article published on 28 February 2019

Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset.

scientific article

Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions

Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion

scientific article published on 01 December 2019

Mitochondrial ataxia is genetically and phenotypically heterogeneous

scientific article published on 11 July 2018

Mitochondrial disorder should be considered as a differential of late-onset myasthenia gravis

scientific article published on 20 September 2020

Mitochondrial metabolic stroke: Phenotype and genetics of stroke-like episodes

scientific article published on 23 March 2019

Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders

scientific article

Mitochondrial vasculopathy

scientific article

Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T

scientific article published on 13 May 2020

Multisystem disease including stroke, epilepsy, dystonia, noncompaction, and kidney agenesis requires genetic work-up

scientific article published on 01 July 2020

Multisystem mitochondrial disorder is more prevalent than BGC1 variants in patients with Fahr's syndrome

scientific article published on 21 November 2019

Muscle biopsy is not diagnostic for MELAS

scientific article published on 03 January 2020

Muscle, cardiac, and cerebral manifestations in female carriers of dystrophin variants

scientific article published on 09 March 2018

Myocarditis in myasthenia gravis

scientific article published on 24 February 2016

Myotoxic drugs and immunodeficiency may contribute to the poor outcome of COVID-19 patients with myotonic dystrophy

scientific article published on 23 November 2020

NDUFS4-related Leigh syndrome in Hutterites.

scientific article

NEMMLAS Due to Biallelic WARS2 Variants

scientific article published on 16 October 2019

Neuropathy due to impaired axonal transport of non-fragmented mitochondria in MYH14 mutation carriers

scientific article published on 22 October 2019

Neuropathy of peripheral nerves in Leber's hereditary optic neuropathy

scientific article published on 26 April 2018

Nitric Oxide Deficiency Triggering Strokelike Episodes.

scientific article

Noncompaction and Takotsubo Syndrome in a Neuromuscular Disorder

scientific article published on 03 June 2019

Noncompaction and scleroderma.

scientific article published in March 2016

Noncompaction and the neuromuscular connection

scientific article published on 26 February 2016

Noncompaction in Duchenne Muscular Dystrophy

scientific article published on 01 May 2016

Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.

scientific article published on 7 April 2016

Oncocytoma and noncompaction in metabolic myopathy

scientific article published on 14 January 2016

Only pathogenic variants in protein-coding mtDNA genes cause Leigh syndrome

scientific article published on 12 September 2019

Ophthalmologic involvement in Leigh syndrome.

scientific article

Ophthalmologic involvement in mitochondrial disorders

scientific article published on 18 July 2016

Outcome of endoscopic lipoma resection in myoclonic epilepsy with ragged-red fibers syndrome may depend on the genotype

scientific article published on 03 July 2020

POLG1-related phenotypes are heterogeneous and progressive due to secondary mtDNA maintenance defects

scientific article published on 20 February 2020

PTCD3 mutations cause Leigh-like rather than Leigh syndrome

scientific article published on 31 January 2019

Pathogenicity of the variant m.13376 T > C in ND5 remains unproven

scientific article published on 05 December 2019

Patients with MELAS not only require treatment of stroke-like episodes but a comprehensive individual and family management

scientific article published on 22 October 2018

Peculiarities of stroke-like lesions on MRI

scientific article published on 12 January 2019

Phenotypic heterogeneity of POMT2 gene variants

scientific article published on 28 December 2017

Phenotypic spectrum of POLG1 mutations.

scientific article published on 13 September 2017

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

scientific article published on 28 April 2016

Phenytoin-induced choreoathetosis after serial seizures due to traumatic brain injury and chronic alcoholism

scientific article published on 17 October 2018

Photosensitive Epilepsy and Polycystic Ovary Syndrome as Manifestations of MERRF

scientific article published on 28 September 2020

Pregnancy and delivery under the MELAS mutation

scientific article published on 13 February 2016

Prevalence of neoplasms in definite and probable mitochondrial disorders.

scientific article published on 12 May 2016

Prospective studies on the efficacy of rituximab for myasthenia gravis are warranted

scientific article published on 04 August 2020

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

scientific article published on 22 May 2017

Rare Phenotypic Manifestations of MELAS

scientific article published on 01 October 2020

Regression of left ventricular hypertrabeculation/noncompaction

scientific article published on 19 March 2016

Reply to: 'Advances in imaging of brain abnormalities in neuromuscular disease'

scientific article published on 27 September 2019

Reply: Takotsubo cardiomyopathy after an emotional outburst

scientific article published on 01 March 2016

Reprint of: Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated.

scientific article published in April 2016

Respiratory insufficiency from myasthenia gravis and polymyositis due to malignant thymoma triggering Takotsubo syndrome

scientific article published on 20 August 2018

Retinal involvement in m.3243A>G carriers

scientific article published on 06 July 2018

SARS-CoV-2 and myasthenia

scientific article published on 10 September 2020

SARS-CoV-2 associated Guillain-Barre syndrome in 62 patients

scientific article published on 25 September 2020

SARS-CoV-2 myopathy

scientific article published on 06 August 2020

SARS-CoV-2 triggered Takotsubo in 38 patients

scientific article published on 06 October 2020

Secondary myopathy due to systemic diseases

scientific article published on 25 February 2016

Silencing of FOXRED1 in C57b1/6 mice does not generate an appropriate animal model of Leigh syndrome

scientific article published on 06 December 2018

Stroke in MELAS is a Vasogenic Edema and not Ischemic

scientific article published on 01 May 2020

Stroke-like Episodes in m.3243A≥G Carriers Need to Be Monitored by MRI Starting with the Onset of Clinical Manifestations

scientific article published on 06 February 2020

Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations

scientific article published on 28 November 2019

Survival and outcome in MELAS not only depends on onset and disease duration

scientific article published on 06 December 2018

Systemic toxicity to betamethasone ointment

scientific article published on 25 May 2020

Takotsubo as Initial Manifestation of Non-Myopathic Cardiomyopathy Due to the Titin Variant c.1489G > T

scientific article published on 30 July 2018

Takotsubo in amyotrophic lateral sclerosis

scientific article published on 10 May 2017

Takotsubo syndrome in Duchenne muscular dystrophy may be triggered by epilepsy

scientific article published on 20 September 2019

The Genetic Cause of Kearns-Sayre Syndrome Determines Counselling and Outcome of These Patients

scientific article published on 08 June 2018

The Spectrum of Neuromuscular Disorders Admitted to a Pediatric Intensive Care Unit Is Broader Than Anticipated

scientific article published on 23 December 2019

The metabolic hypothesis is more likely than the epileptogenic hypothesis to explain stroke-like lesions

scientific article published on 26 March 2020

The metabolic hypothesis is more likely than the epileptogenic hypothesis to explain stroke-like lesions

scientific article published on 24 June 2020

The mitochondrial calcium uniporter: a new therapeutic target for Parkinson's disease-related cardiac dysfunctions?

scientific article published on 10 January 2020

Tinnitus is multicausal and may not only be related to DNA variants

scientific article published on 10 October 2018

Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.

scientific article published on 7 January 2016

Triple occurrence of seizure-associated takotsubo syndrome

scientific article published on 24 February 2016

Uncovering the etiology of ptosis prior to blepharoplasty

scientific article published on 15 September 2020

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

scientific article published on 24 March 2017

Unusual Phenotype and Disease Trajectory in Kearns-Sayre Syndrome

scientific article published on 27 February 2020

Update Review about Metabolic Myopathies

scientific article published on 17 April 2020

Update on the neurology of COVID-19

scientific article published on 13 May 2020

Viability of diffusion tensor imaging for assessing retro-chiasmatic involvement in Kearns-Sayre syndrome remains elusive

scientific article published on 06 December 2019

Volume loss and altered neuronal composition in the brainstem reticular zone may not cause sudden unexpected death in epilepsy

scientific article published on 10 August 2020

We never speak about sudden unexpected death in Parkinson's disease

scientific article published on 14 March 2020

Wet, volatile, and dry biomarkers of exercise-induced muscle fatigue

scientific article

Whole exome should be preferred over Sanger sequencing in suspected mitochondrial myopathy

scientific article published on 01 March 2019

[Mitochondrial disorders require a comprehensive perioperative management]

scientific article published on 01 June 2016

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