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Progressive supranuclear palsy

H Moore, C Luca… - Uncommon Causes of Movement …, 2011 - books.google.com
... Over the next four years his friend progressively developed an unusual constellation of symptoms
including vertical supra- nuclear ophthalmoplegia, pseudobulbar palsy, dys- arthria, dystonic
rigidity-in-extension of the neck and mild dementia [1]. In the next few years more ...
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Compound mutations of PEO1 and TYMP in a progressive external ophthalmoplegia patient with incomplete mitochondrial neurogastrointestinal encephalomyopathy …

K Nakhro, KW Chung, SM Kim, IN Sunwoo… - Genes & Genomics, 2011 - Springer
... Abstract The Mendelian inherited progressive external ophthalmoplegia (PEO) and mitochondrial
neurogastrointestinal encephalomy- opathy (MNGIE) are genetically heterogeneous mitochondrial
diseases caused by nuclear-mitochondrial intergenomic defects. ...

Kozhevnikov epilepsy: The disease and its eponym

AA Vein… - Epilepsia, 2011 - Wiley Online Library
... Kozhevnikov focused on a wide range of scientific sub- jects including topics such as
amyotrophic lateral sclerosis, aphasia, myasthenia, progressive familial spastic paralysis,
cysticercoids of the brain, nuclear ophthalmoplegia, and bulbar paralysis. ...
Cited by 1 - Related articles - All 3 versions

Supranuclear ophthalmoparesis and vacuolar degeneration of the cerebral white matter in amyotrophic lateral sclerosis: A clinicopathological study

T Takeda, T Uchihara, Y Mochizuki… - Amyotrophic …, 2011 - informahealthcare.com
... artificial ventilation support (19–21). These patients exhibited nuclear
ophthalmoplegia caused by degenerative changes in the oculomotor and abducens
nuclei. In contrast, Esteban et al. reported that Bell's phenomenon was ...

Human" Nuclear" Mitochondrial Cardiomyopathy: A Novel Mouse Model Characterizes the Disease

E Arbustini… - JACC Cardiovascular Imaging, 2011 - imaging.onlinejacc.org
... encephalomyopathies and chronic ophthalmoplegia with myopathy). Cardiomyopathy can
represent the initial presentation of mitochondrial diseases (2). Because proteins contributing
to energy production are encoded by both mitochondrial and nuclear genes, mitochondrial ...
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