J Finsterer

Summary

Country: Germany

Publications

  1. ncbi Severe hypokalemic paralysis as a manifestation of a mitochondrial disorder
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Tohoku J Exp Med 231:9-12. 2013
  2. ncbi Toxicity of Antiepileptic Drugs to Mitochondria
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Vienna, Austria
    Handb Exp Pharmacol . 2016
  3. doi Prevalence of neoplasms in definite and probable mitochondrial disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung Electronic address
    Mitochondrion 29:31-4. 2016
  4. doi Stroke-like episodes, peri-episodic seizures, and MELAS mutations
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria Electronic address
    Eur J Paediatr Neurol 20:824-829. 2016
  5. doi Secondary myopathy due to systemic diseases
    J Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Acta Neurol Scand 134:388-402. 2016
  6. ncbi Propofol Is Mitochondrion-Toxic and May Unmask a Mitochondrial Disorder
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    J Child Neurol 31:1489-1494. 2016
  7. ncbi Neurological complications of cardiac disease (heart brain disorders)
    Josef Finsterer
    Rudolfstiftung Hospital, Vienna, Austria
    Minerva Med 107:14-25. 2016
  8. doi The Eye on Mitochondrial Disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    J Child Neurol 31:652-62. 2016
  9. doi Onset Manifestations of Spinal and Bulbar Muscular Atrophy (Kennedy's Disease)
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Vienna, Austria
    J Mol Neurosci 58:321-9. 2016
  10. doi Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1
    Josef Finsterer
    Kar Vienna, Vienna, Austria Electronic address
    Rev Port Cardiol 34:361.e1-4. 2015

Detail Information

Publications198 found, 100 shown here

  1. ncbi Severe hypokalemic paralysis as a manifestation of a mitochondrial disorder
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Tohoku J Exp Med 231:9-12. 2013
    ..Endocrine involvement may be a phenotypic feature of MtD. ..
  2. ncbi Toxicity of Antiepileptic Drugs to Mitochondria
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Vienna, Austria
    Handb Exp Pharmacol . 2016
    ..Only in cases of ineffectivity or severe mitochondrial epilepsy, mitochondrion-toxic AEDs should be given. This applies for AEDs given orally or intravenously...
  3. doi Prevalence of neoplasms in definite and probable mitochondrial disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung Electronic address
    Mitochondrion 29:31-4. 2016
    ..4 fold increased. In conclusion, adult MID patients seem to carry an increased risk to develop malignancy or a benign neoplasm. Females with a MID seem to be predominantly at risk to develop a neoplasm. ..
  4. doi Stroke-like episodes, peri-episodic seizures, and MELAS mutations
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria Electronic address
    Eur J Paediatr Neurol 20:824-829. 2016
    ....
  5. doi Secondary myopathy due to systemic diseases
    J Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Acta Neurol Scand 134:388-402. 2016
    ..Some systemic diseases also affect the skeletal muscle to various degrees and with different manifestations. This review aimed at summarizing and discussing recent advances concerning the management of muscle disease in systemic diseases...
  6. ncbi Propofol Is Mitochondrion-Toxic and May Unmask a Mitochondrial Disorder
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    J Child Neurol 31:1489-1494. 2016
    ..Propofol infusion syndrome is preventable if risk factors are thoroughly assessed, and if long-term propofol is avoided in patients at risk for propofol infusion syndrome...
  7. ncbi Neurological complications of cardiac disease (heart brain disorders)
    Josef Finsterer
    Rudolfstiftung Hospital, Vienna, Austria
    Minerva Med 107:14-25. 2016
    ..Heart disease is a frequent cause of cerebral compromise. This review aimed at summarising and discussing available data about heart brain disorders...
  8. doi The Eye on Mitochondrial Disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    J Child Neurol 31:652-62. 2016
    ..Ophthalmologic manifestations of mitochondrial disorders need to be appropriately diagnosed to initiate the most effective management and guarantee optimal outcome. ..
  9. doi Onset Manifestations of Spinal and Bulbar Muscular Atrophy (Kennedy's Disease)
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Vienna, Austria
    J Mol Neurosci 58:321-9. 2016
    ..Since life expectancy is hardly reduced in SBMA, re-investigation of patients from published studies with regard to their initial disease profiles is recommended...
  10. doi Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1
    Josef Finsterer
    Kar Vienna, Vienna, Austria Electronic address
    Rev Port Cardiol 34:361.e1-4. 2015
    ..Syncope and palpitations as the only initial manifestations of myotonic dystrophy type 1 (MD1) due to a CTG expansion of 50-100 repeats have not been reported...
  11. doi Fasciculations in human hereditary disease
    Josef Finsterer
    Krankenanstalt Rudolfstiftung Vienna, Postfach 20, 1180, Vienna, Austria
    Acta Neurol Belg 115:91-5. 2015
    ....
  12. doi Collum-caput (COL-CAP) concept for conceptual anterocollis, anterocaput, and forward sagittal shift
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria Electronic address
    J Neurol Sci 355:37-43. 2015
    ..Anterocollis as a rare subtype of cervical dystonia is difficult to treat and thus less appreciated than other subtypes of cervical dystonia. This review aimed at summarising and discussing recent advances in the management of anterocollis...
  13. ncbi Adult, isolated respiratory chain complex IV deficiency with minimal manifestations
    Josef Finsterer
    Josef Finsterer, MD, PhD, Postfach 20, 1180 Vienna, Austria, phone 43 1 71165 92085, fax 43 1 4781711, E mail
    Folia Neuropathol 53:153-7. 2015
    ..Here we report an adult with isolated complex IV deficiency with unusually mild clinical manifestations...
  14. doi Seizure-triggered Takotsubo syndrome rarely causes SUDEP
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria Electronic address
    Seizure 31:84-7. 2015
    ..Fatalities are rare in patients experiencing seizure-triggered TTS. This is why seizure-triggered TTS does not seem to play a major role in the pathogenesis of SUDEP...
  15. doi Abnormalities of Skin and Cutaneous Appendages in Neuromuscular Disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria Electronic address
    Pediatr Neurol 53:301-8. 2015
    ..However, the skin is more frequently affected in neuromuscular disorders and deserves more attention than so far acknowledged...
  16. doi Review of Cardiac Disease in Nemaline Myopathy
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria Electronic address
    Pediatr Neurol 53:473-7. 2015
    ..This review summarizes and discusses findings concerning the type, prevalence, diagnosis, treatment, and outcome of cardiac involvement in nemaline myopathy...
  17. doi Sudden cardiac death in neuromuscular disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria Electronic address
    Int J Cardiol 203:508-15. 2016
    ..Some of these patients even experience sudden cardiac death (SCD). In the following review, we summarize recent findings concerning epidemiology, risk stratification, and prevention of SCD in NMDs...
  18. doi Therapeutic strategies for mitochondrial disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria Electronic address
    Pediatr Neurol 52:302-13. 2015
    ..This review highlights potential strategies for the therapeutic management of mitochondrial disorders...
  19. doi Fatigue in healthy and diseased individuals
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Am J Hosp Palliat Care 31:562-75. 2014
    ..Although fatigue is experienced by everyone, its definition and classification remains under debate...
  20. doi Mitochondrial toxicity of cardiac drugs and its relevance to mitochondrial disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria, Europe 43 1 71165 92085 43 1 4781711
    Expert Opin Drug Metab Toxicol 11:15-24. 2015
    ..This review focuses on the mitochondrion-toxic effects of cardiac drugs and the extent to which mitochondrion-mediated side effects influence the treatment of cardiac disease in mitochondrial disorders (MIDs)...
  21. doi CNS disease triggering Takotsubo stress cardiomyopathy
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria Electronic address
    Int J Cardiol 177:322-9. 2014
    ..TTS is one of the cardiac abnormalities most frequently induced by CNS disorders. Appropriate management of TTS from CNS disorders is essential to improve the outcome of affected patients. ..
  22. doi Cardiac manifestations of primary mitochondrial disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria Electronic address
    Int J Cardiol 177:754-63. 2014
    ..Cardiac involvement (CI) in MIDs has therapeutic and prognostic implications. This review aims at summarizing and discussing the various cardiac manifestations in MIDs...
  23. doi Parasitoses with central nervous system involvement
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Juchgasse 25, 1030, Vienna, Austria
    Wien Med Wochenschr 164:400-4. 2014
    ..Treatment is based on various antihelminthic agents and, occasionally, surgery. ..
  24. doi Haematological features in Barth syndrome
    Josef Finsterer
    Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria
    Curr Opin Hematol 20:36-40. 2013
    ..This review highlights recent advances concerning pathogenesis, clinical presentation, diagnosis and treatment of Barth syndrome with particular regard to haematological abnormalities (e.g., neutropenia)...
  25. doi Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria Electronic address
    Neuromuscul Disord 24:721-5. 2014
    ..Cardiac involvement may be present in MYH7-myopathy and may be progressive between the generations, ranging from relaxation abnormality to noncompaction, ventricular arrhythmias, and dilated cardiomyopathy...
  26. doi Recent progress in the genetics of motor neuron disease
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria Electronic address
    Eur J Med Genet 57:103-12. 2014
    ..Genetic background and pathogenesis of motor neuron diseases (MNDs) have been increasingly elucidated over recent years...
  27. pmc Cerebellar nocardiosis and myopathy from long-term corticosteroids for idiopathic thrombocytopenia
    Marlies Frank
    First Medical Department, Hospital Rudolfstiftung, Vienna, Austria
    Yonsei Med J 51:131-7. 2010
    ..Cerebral nocardiosis may not sufficiently respond to long-term antibiotic therapy why switching to alternative antibiotics or surgery may be necessary...
  28. pmc Seizure as initial manifestation of aortic dissection type a
    Josef Finsterer
    Vienna, Austria, Europe
    West J Emerg Med 11:510-1. 2010
    ..Seizure as the initial manifestation of aortic dissection is rare...
  29. pmc Stroke and Stroke-like Episodes in Muscle Disease
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Danube University Krems, Austria
    Open Neurol J 6:26-36. 2012
    ..This review aims to summarize and discuss current knowledge about stroke in myopathies and to delineate stroke-like episodes from ischemic stroke...
  30. pmc Lift the quilt in case of atrial fibrillation and disc prolapse
    Adam Bastovansky
    Department of Radiology, Krankenanstalt Rudolfstiftung, Vienna, Austria
    Vasc Health Risk Manag 8:389-92. 2012
    ..Peripheral embolism to the lower extremities may mimic disc prolapse with severe consequences...
  31. pmc Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy
    Sinda Zarrouk Mahjoub
    Genetics Laboratory and Research Unit of Genetics Epidemiology and Molecular, Faculty of Medicine of Tunis, Tunis 1007, Tunisia
    ISRN Cardiol 2012:251723. 2012
    ..Conclusions. Though the L230I mutation seems to play a causative role for dCMP, prospective studies on yeast or transgenic mice models with defined mutation are warranted to study the pathogenetic impact of this mutation...
  32. pmc Favorable Outcome of Ramsay Hunt Syndrome under Dexamethasone
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria
    Case Report Med 2012:247598. 2012
    ..Ramsay Hunt syndrome was diagnosed. Instead of prednisolone she received dexamethasone (40 mg/d) but nonetheless recovered completely after 12 weeks...
  33. pmc Apply Awaji-shima Consensus Conference Criteria Before Diagnosing Amyotrophic Lateral Sclerosis
    Josef Finsterer
    Danube University Krems, Krems, Krankenanstalt Rudolfstiftung, Vienna, Austria
    Open Neurol J 7:4-6. 2013
    ..ALS may be diagnosed although affection of other organs suggests another pathogenetic back-ground...
  34. pmc Catheter ablation of multiple accessory pathways in duchenne muscular dystrophy
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Korean Circ J 43:115-8. 2013
    ..This case shows that cardiac involvement in DMD may manifest also as WPW-syndrome. In these patients, repeated radio-frequency catheter ablation of accessory pathways may be necessary to completely block the re-entry mechanism...
  35. doi Unclassified cardiomyopathies in neuromuscular disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Vienna, Austria
    Wien Med Wochenschr 163:505-13. 2013
    ..Unclassified CMPs are frequently associated with noncardiac disease, including neuromuscular disorders (NMDs). This review aims at summarizing and discussing recent findings concerning the association of NMDs with unclassified CMPs...
  36. doi Parasitoses of the human central nervous system
    J Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    J Helminthol 87:257-70. 2013
    ..g. Angiostrongylus costaricensis) or whether they remain undetected or asymptomatic, like 25% of neurocysticerciasis cases. ..
  37. doi Hirayama disease in Austria
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria Electronic address
    Joint Bone Spine 80:503-7. 2013
    ..The study aimed at systematically collecting cases of HD in Austria and at describing and discussing their presentation on clinical and instrumental investigations and at comparing them with cases reported from other countries...
  38. doi Mitochondrial epilepsy in pediatric and adult patients
    J Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Acta Neurol Scand 128:141-52. 2013
    ..To optimize management of mitochondrial epilepsy, it is essential to differentiate between early and late-onset forms. ..
  39. doi Dementia from the ABCD1 mutation c.1415-1416delAG in a female carrier
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria Electronic address
    Gene 530:155-7. 2013
    ..We report a unique female X-ALD carrier presenting with severe, progressive dementia, paraspasticity, sphincteric dysfunction, and multisystem disease...
  40. doi Influence of mitochondrion-toxic agents on the cardiovascular system
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria Electronic address
    Regul Toxicol Pharmacol 67:434-45. 2013
    ..Particularly coenzyme-Q, riboflavin, vitamin-E, vitamin-C, L-carnitine, vitamin-D, thiamin, folic acid, omega-3 fatty acids, and D-ribose may alleviate mitochondrial cardiotoxic effects...
  41. ncbi Repurposed drugs in metabolic disorders
    Josef Finsterer
    Postfach 20, 1180 Vienna, Austria
    Curr Top Med Chem 13:2386-94. 2013
    ..Future investigations will need to identify which candidate drugs may leave the pipeline status to acquire approval for new indications. ..
  42. doi Cardiomyopathy in neurological disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria Electronic address
    Cardiovasc Pathol 22:389-400. 2013
    ..Which patients with cardiomyopathy profit most from primary stroke prevention is unsolved and requires further investigations. ..
  43. doi Sudden death possibly related to lenalidomide given for cardiac and muscle AL amyloidosis secondary to light chain deposition disease
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    J Oncol Pharm Pract 19:170-4. 2013
    ..Restrictive cardiomyopathy due to AL amyloidosis has not been reported as the cause of sudden death. The risk of sudden death in AL amyloidosis may be further increased by potentially cardiotoxic medication, as in the following case...
  44. ncbi Brachydactylia as a phenotypic feature of mitochondrial disorder
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Acta Med Iran 50:831-5. 2012
    ..The family history was positive for diabetes but negative for brachydactylia or other features of a MID. MIDs may be associated with brachydactylia. Skeletal deformities may be a phenotypic manifestation of MIDs...
  45. doi Familal left ventricular hypertrabeculation (noncompaction) is myopathic
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Danube University Krems, Austria
    Int J Cardiol 164:312-7. 2013
    ..In most cases LVHT is associated with neuromuscular disorders (NMDs) or other rare non-neuromuscular genetic syndromes. Occasionally, LVHT occurs familiarly...
  46. ncbi Alive with almost no Brain: Severe Post-Hemorrhagic Internal Hydrocephalus
    J Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, Vienna, Vienna 1180, Austria
    Med J Malaysia 68:86-7. 2013
    ..Severe post-hemorrhaghic internal hydrocephalus with almost complete atrophy of the cerebral parenchyma, as in the following case, is rare...
  47. doi Presentation of adult mitochondrial epilepsy
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Seizure 22:119-23. 2013
    ..We were interested in the types of epilepsy, the prevalence of mitochondrial epilepsy, the type and effectiveness of treatment, and in the outcome of adult MID patients with epilepsy...
  48. doi Thrombolysis of ischemic stroke from noncompaction in metabolic myopathy
    Josef Finsterer
    Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria
    Neurologist 18:296-7. 2012
    ..Ischemic stroke has not been reported together with left ventricular hypertrabeculation/noncompaction (LVHT) and metabolic myopathy...
  49. ncbi Beneficial effect of ivabradine in dilated cardiomyopathy from Becker muscular dystrophy
    J Finsterer
    Danube University Krems, Krems, Osterreich
    Herz 37:702-5. 2012
    ..The I(f) blocker ivabradine reduces heart rate and improves systolic function without causing arterial hypotension. Ivabradine has not been reported to improve cardiac involvement in Becker muscular dystrophy (BMD)...
  50. doi Leukoencephalopathies in mitochondrial disorders: clinical and MRI findings
    Josef Finsterer
    Danube University Krems, Krems, Austria
    J Neuroimaging 22:e1-11. 2012
    ..Because the presence of LEM has an impact on the prognosis of an MID, all MID patients should undergo cerebral imaging even in the absence of clinical CNS manifestations...
  51. doi Arrhythmia-related workup in hereditary myopathies
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    J Electrocardiol 45:376-84. 2012
    ..Arrhythmias determine life expectancy in patients with hereditary myopathies...
  52. doi Cognitive dysfunction in mitochondrial disorders
    J Finsterer
    Danube University Krems, Krems and Krankenanstalt Rudolfstiftung, Vienna, Austria
    Acta Neurol Scand 126:1-11. 2012
    ..Cognitive impairment may be a CNS manifestation of syndromic as well as non-syndromic MIDs. Correct diagnosis of mitochondrial cognitive impairment is a prerequisite for the optimal management of these patients...
  53. doi Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Wien, Austria
    J Neurol Sci 318:1-18. 2012
    ..Among the XL-SPGs, 3 causative genes have been identified (L1CAM (SPG1), PLP1 (SPG2), and SLC16A2 (SPG22)). The diagnosis of SPGs is based on clinical, instrumental and genetic investigations. Treatment is exclusively symptomatic...
  54. doi Epilepsy in mitochondrial disorders
    Josef Finsterer
    Danube University Krems, Krems, Austria
    Seizure 21:316-21. 2012
    ..Aim of the review was to describe epilepsy in syndromic and non-syndromic mitochondrial disorders with epilepsy as a dominant or collateral feature of the phenotype...
  55. doi Mimicry between mitochondrial disorder and multiple sclerosis
    Josef Finsterer
    Danube University Krems, Austria
    Metab Brain Dis 27:217-20. 2012
    ..It is concluded that even if CSF investigations or imaging studies suggest MS, differentials such as MIDs need to be excluded before prescribing medication possibly toxic to a MID. An "inflammatory CSF" may also occur in MIDs...
  56. doi Dilative arteriopathy in metabolic myopathies, particularly Pompe's disease
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria
    Acta Neurol Belg 112:15-8. 2012
    ..Early recognition of ectasias and aneurysms and appropriate interventions by enzyme replacement therapy, stenting, coiling or surgery may prevent mild or severe cerebrovascular complications or even death in some of these patients...
  57. doi Inherited mitochondrial disorders
    Josef Finsterer
    Danube University Krems, Vienna, Austria Europe
    Adv Exp Med Biol 942:187-213. 2012
    ..Genetic testing should be guided by the phenotype, the biopsy findings, and the biochemical results...
  58. ncbi Dopamine-deficiency-enhanced hyperthermia and rhabdomyolysis during a heat wave in a metachromatic leucodystrophy heterozygote with metabolic myopathy
    Josef Finsterer
    Acta Neurol Belg 111:321-4. 2011
    ..Hyper-CK-emia returned to similar levels as before rhabdomyolysis. Reduction of dopamine agonists during a heat wave may induce a dopamine deficiency syndrome with hyperthermia, rhabdomyolysis and thrombocytopenia...
  59. ncbi Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    J Neurol Sci 266:182-6. 2008
    ..If Refsum disease (RD) is not considered as a differential at onset of the initial manifestations the diagnosis of RD remains unrecognized for a long time as in the following case...
  60. ncbi Asymptomatic, progressive electrocardiographic abnormalities over twelve years in myotonic dystrophy 1
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna Austria
    Acta Cardiol 62:513-5. 2007
  61. ncbi Primary periodic paralyses
    J Finsterer
    Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria
    Acta Neurol Scand 117:145-58. 2008
    ..To review the current knowledge about primary periodic paralyses (PPs)...
  62. ncbi Significance of CK-elevation in noncompaction with regard to cardiac and neuromuscular disease
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Juchgasse 25, 1130 Vienna, Europe, Austria
    Int J Cardiol 130:174-9. 2008
    ....
  63. ncbi Progressive mitral valve thickening and progressive muscle cramps as manifestations of glycogenosis VII (Tarui's Disease)
    Josef Finsterer
    Second Medical Department, and Krankenanstalt Rudolfstiftung, Vienna, Austria
    Cardiology 110:238-40. 2008
    ..Valve thickening may consecutively lead to valve insufficiency, enlargement of the atrium and atrial fibrillation. Progression of neurological manifestations may manifest as worsening muscle cramps...
  64. doi Primary myopathies and the heart
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Scand Cardiovasc J 42:9-24. 2008
    ..Patients with myopathy should be cardiologically investigated as soon as their neurological diagnosis is established, since supportive cardiac therapy is available, which markedly influences prognosis and outcome of CI in these patients...
  65. doi Acquired left ventricular noncompaction as a cardiac manifestation of neuromuscular disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Scand Cardiovasc J 42:25-30. 2008
    ....
  66. ncbi Is atherosclerosis a mitochondrial disorder?
    J Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Vasa 36:229-40. 2007
    ..Overall, atherosclerosis appears to be the endpoint of various different pathogenetic mechanisms, of which oxidative stress and disturbed mitochondrial metabolism and function are key factors...
  67. doi Prevalence of Barth syndrome in adult left ventricular hypertrabeculation / noncompaction
    Josef Finsterer
    Hospital Rudolfstiftung, Vienna, Austria
    Scand Cardiovasc J 42:157-60. 2008
    ..Aim of the present investigation was to determine the prevalence of these characteristics in a large cohort of adult LVHT patients...
  68. pmc Management of peripheral facial nerve palsy
    Josef Finsterer
    Neurological Department, Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Vienna, Austria
    Eur Arch Otorhinolaryngol 265:743-52. 2008
    ..Prognosis of Bell's palsy is fair with complete recovery in about 80% of the cases, 15% experience some kind of permanent nerve damage and 5% remain with severe sequelae...
  69. doi Asymptomatic, nonsustained ventricular tachycardia in myotonic dystrophy type 1 detected with a loop recorder
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Eur Neurol 60:109-11. 2008
  70. doi Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Neurol Sci 29:173-5. 2008
    ..In the absence of elevated phytanic acid concentrations, clinical neurologic abnormalities in heterozygous relatives of Refsum patients are not attributable to heterozygosity for PAHX mutations...
  71. doi Leigh and Leigh-like syndrome in children and adults
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Pediatr Neurol 39:223-35. 2008
    ..Associated mutations affect genes of the mitochondrial or nuclear genome. Leigh syndrome and Leigh-like syndrome are the mitochondrial disorders with the largest genetic heterogeneity...
  72. ncbi Strategies for primary and secondary stroke prevention in atrial fibrillation
    J Finsterer
    Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria
    Neth J Med 66:327-33. 2008
    ....
  73. doi Recovery from acute paraplegia due to spontaneous spinal, epidural hematoma under minimal-dose acetyl-salicylic acid
    Josef Finsterer
    Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria
    Neurol Sci 29:271-3. 2008
    ..Spontaneous spinal epidural hematoma (SEH) has not been reported under anti-thrombotic therapy with acetyl-salicylic acid (ASA) in a dosage of 50 mg/d...
  74. pmc Cardiac involvement in Becker muscular dystrophy
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Can J Cardiol 24:786-92. 2008
    ..Because CI in BMD is progressive and adequate therapy is available, cardiac investigations need to be regularly repeated. If CI in BMD is recognized early, appropriate therapy may be applied early, resulting in a more favourable outcome...
  75. doi [MELAS syndrome as a differential diagnosis of ischemic stroke]
    J Finsterer
    Krankenanstalt Rudolfstiftung, Wien, Osterreich
    Fortschr Neurol Psychiatr 77:25-31. 2009
    ..The diagnosis is confirmed by demonstration of a biochemical respiratory chain defect or one of the disease-causing mutations, of which 80 % affect the mitochondrial tRNALeu gene...
  76. doi Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria, Europe
    Pediatr Cardiol 30:659-81. 2009
    ..This study aimed to review the current knowledge about the genetic or pathogenetic background of LVHT...
  77. doi Mitochondrial disorders, cognitive impairment and dementia
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria address
    J Neurol Sci 283:143-8. 2009
    ..Overall, mitochondrial dementia is an important differential of dementias and should be considered in patients with multi-system disease...
  78. doi Heterozygous promotor haplotype LXA/LYB in MBL-deficiency associated with myopathy and left ventricular hypertrabeculation/noncompaction
    J Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Ir J Med Sci 180:909-11. 2011
    ..To report the genetic background of mannose-binding lectin (MBL)-deficiency in a patient with recurrent infections, cardiac disease, and myopathy...
  79. ncbi Neuromuscular disorders associated with apical hypertrophic cardiomyopathy
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Acta Cardiol 64:85-9. 2009
    ..Cardiomyopathy is a frequent manifestation of neuromuscular disorders...
  80. doi Multi-system mitochondrial disorder with recurrent steroid-responsive eosinophilia
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria
    Rheumatol Int 30:135-9. 2009
    ..Mitochondrial disease may go along with marked eosinophilia mimicking Churg–Strauss syndrome. Steroids may be useful to resolve episodic eosinophilia but may be ineffective for other features of mitochondrial disorders...
  81. ncbi Bulbar and spinal muscular atrophy (Kennedy's disease): a review
    J Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Eur J Neurol 16:556-61. 2009
    ..The course is slowly progressive, the ability to walk lost only late in life, only few patients require ventilatory support, and life expectancy only slightly reduced...
  82. doi Recurrent posterior reversible encephalopathy syndrome in mitochondrial disorder
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Blood Press 18:126-9. 2009
    ..Recurrent posterior reversible encephalopathy syndrome (PRES) has not been reported in association with multi-system mitochondrial disorder (MID)...
  83. doi [Cerebral CT and MRI in mitchondrial disorders]
    J Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Wien, Osterreich
    Nervenarzt 80:700-7. 2009
    ....
  84. doi Laminar cortical necrosis in mitochondrial disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Clin Neurol Neurosurg 111:655-8. 2009
    ....
  85. doi Treatment of mitochondrial disorders
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Eur J Paediatr Neurol 14:29-44. 2010
    ..Despite limited possibilities, symptomatic treatment should be offered to MID patients, since it can have a significant impact on the course and outcome...
  86. doi Malignant hyperthermia susceptibility in a patient with mitochondrial disorder
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria
    Metab Brain Dis 24:501-6. 2009
    ..Though previous general anesthesias had been carried out without major complications, it cannot be ruled out that MH-like manifestations may develop during future anesthesias if trigger agents are not avoided...
  87. doi Disappearance of episodic weakness during pregnancy in hyperkalemic periodic paralysis from the SCNA4 mutation T704M
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria, Europe
    Neurologist 15:289-90. 2009
    ..Disappearance of episodic weakness during pregnancy and an increase in myotonia after delivery have not been reported in hyperkalemic periodic paralysis (hyperPP)...
  88. doi Management of mitochondrial stroke-like-episodes
    J Finsterer
    Krankenanstalt Rudolfstiftung, Vienna and Danube University, Krems, Austria
    Eur J Neurol 16:1178-84. 2009
    ..The most effective strategy for the treatment of SLEs appears to be the application of L-arginine, coenzyme-Q, steroids, edaravone, creatine-monohydrate, or dichloracetate...
  89. doi Drugs interfering with mitochondrial disorders
    Josef Finsterer
    Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria
    Drug Chem Toxicol 33:138-51. 2010
    ..This review aims to give an overview about those agents that interfere with mitochondrial functions...
  90. doi [Mitochondrial myopathies]
    J Finsterer
    Krankenanstalt Rudolfstiftung, Wien Osterreich
    Fortschr Neurol Psychiatr 77:631-8. 2009
    ..General anesthesia needs to be performed in the same way as in patients with susceptibility for malignant hyperthermia...