All Stories

  1. Intractable Epilepsy in Maternally Inherited Leigh Syndrome (MILS) Due to the Sporadic Variant m.8993T>G in MT-ATP6: A Case Report

    Article • Cureus, February 2022, Cureus, Inc.

    Dr j finsterer

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

    Article • The Application of Clinical Genetics, August 2019, Dove Medical Press

    Dr j finsterer

  3. Barth syndrome: mechanisms and management

    Article • The Application of Clinical Genetics, June 2019, Dove Medical Press

    Dr j finsterer

  4. How Do Depressive Mood or Antidepressants Acutely Increase Serum Catecholamines?

    Article • Clinical Practice and Epidemiology in Mental Health, January 2019, Bentham Science Publishers

    Dr j finsterer

  5. Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders

    Article • October 2017, Dove Medical Press

    Dr j finsterer, sinda zarrouk

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

    Article • Clinical Ophthalmology, May 2017, Dove Medical Press

    Dr j finsterer, sinda zarrouk

  7. Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial Disorder

    Article • Case Reports in Neurology, April 2017, Karger Publishers

    Dr j finsterer

  8. A MELAS phenotype is not necessarily MELAS

    Article • Tropical Doctor, December 2016, SAGE Publications

    Dr j finsterer

  9. Leber’s hereditary optic neuropathy is multiorgan not mono-organ

    Article • Clinical Ophthalmology, November 2016, Dove Medical Press

    Dr j finsterer, sinda zarrouk

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

    Article • International Medical Case Reports Journal, March 2016, Dove Medical Press

    Dr j finsterer

  11. Myotone Dystrophien: Klinik, Pathogenese, Diagnostik und Therapie

    Article • Fortschritte der Neurologie · Psychiatrie, January 2015, Thieme Publishing Group

    Dr j finsterer

  12. Mitochondrial disorder caused Charles Darwin's cyclic vomiting syndrome

    Article • International Journal of General Medicine, January 2014, Taylor & Francis

    Dr j finsterer, Dr John Hayman

  13. Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema

    Article • International Journal of General Medicine, September 2013, Taylor & Francis

    Dr j finsterer