Easily misdiagnosed X-linked adrenoleukodystrophy.

Autor: Wang, Qiu-Hong^1,2 (AUTHOR), Wang, Yang-Yang¹ (AUTHOR), Wang, Jing¹ (AUTHOR), Liu, Li-Ying³ (AUTHOR), Gao, Jing¹ (AUTHOR), Hao, Guo-Zhen¹ (AUTHOR), Chen, Chen¹ (AUTHOR), Lu, Qian^1,2 (AUTHOR), Dun, Shuo^1,2 (AUTHOR), Zhang, Qi^1,2 (AUTHOR), Zou, Li-Ping^1,2,4 (AUTHOR) zouliping21@hotmail.com

Publikováno v: Italian Journal of Pediatrics. 7/2/2024, Vol. 50 Issue 1, p1-7. 7p.

Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum.

Autor: Schreglmann SR; Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, UK.; Department of Neurology, University Hospital Zurich, Zurich, Switzerland.; Department of Neurology, Kantonsspital St. Gallen, St. Gallen, Switzerland., Riederer F; Department of Neurology, University Hospital Zurich, Zurich, Switzerland.; Neurological Center Rosenhuegel and Karl Landsteiner Institute for Epilepsy Research and Cognitive Neurology, Vienna, Austria., Galovic M; Department of Neurology, Kantonsspital St. Gallen, St. Gallen, Switzerland.; UK National Institute for Health Research, University College London Hospitals Biomedical Research Centre.; Department of Clinical and Experimental Epilepsy, University College London (UCL) Institute of Neurology, London, UK, Epilepsy Society, Chalfont St. Peter, UK., Ganos C; Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, UK.; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kägi G; Department of Neurology, Kantonsspital St. Gallen, St. Gallen, Switzerland., Waldvogel D; Department of Neurology, University Hospital Zurich, Zurich, Switzerland., Jaunmuktane Z; Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology and Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, London, UK., Schaller A; Department of Genetics, Inselspital Bern, Bern, Switzerland., Hidding U; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Krasemann E; Department of Human Genetics, Medizinisches Versorgungszentrum (MVZ) Labor Fenner GmbH, Hamburg, Germany., Michels L; Clinic of Neuroradiology, University Hospital Zurich, Zurich, Switzerland., Baumann CR; Department of Neurology, University Hospital Zurich, Zurich, Switzerland., Bhatia K; Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, UK., Jung HH; Department of Neurology, University Hospital Zurich, Zurich, Switzerland.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2018 Jan; Vol. 33 (1), pp. 146-155. Date of Electronic Publication: 2017 Sep 13.

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Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection.

Autor: Pauer, H U, Hinney, B, Michelmann, H W, Krasemann, E W, Zoll, B, Engel, W

Publikováno v: Human Reproduction; Sep1997, Vol. 12 Issue 9, p1909-1912, 4p

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