Results 51 to 60 of about 126 (110)

A 16-year-old boy with myoclonus, epilepsy and ataxia

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
doi: 10.3969/j.issn.1672-6731.2014.03 ...
He-cheng YANG, Qiang LU, Yin-chang YANG, Li-ying CUI   +3 more
doaj  

Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling

Brain and Behavior
Introduction/Aims Mitochondrial encephalomyopathies are multisystem disorders caused by defects in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) syndrome is a rare manifestation ...
Fanjing Zhou, Jiang Chen, Tingzheng Zhang, Fengnan Niu, Jinglong Hu, Yun Xu, Meijuan Zhang   +6 more
doaj   +1 more source

Postinfectious epilepsy: clinical and diagnostical features

Эпилепсия и пароксизмальные состояния
Background. According to some authors, neuroinfection agents play a role in the development of several neurological disorders, including epilepsy. For many years, it was believed that acute infectious diseases, such as tick-borne encephalitis virus and ...
А. V. Vasilenko, А. Yu. Ulitin, L. S. Onishchenko, N. I. Ananyeva, R. V. Grebenshchikova, О. N. Gaykova, А. V. Ivanenko, S. S. Kolosov, S. А. Turanov, S. N. Chudievich   +9 more
doaj   +1 more source

[A case of mitochondrial encephalomyopathy (MELAS)].

Nihon Jinzo Gakkai shi, 1996
Mitochondrial encephalomyopathy is a hereditary syndrome showing impairment of muscle and the central nervous system. In this disorder, the following three syndromes have been identified on the basis of characteristic symptoms: Kearns-Sayre syndrome (KSS), mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes (MELAS), and ...
SUZUKI, Tori, FUJINO, Tomoya, SUGIYAMA, Makoto, ISHIDA, Masashi   +3 more
openaire   +2 more sources

Mitochondrial encephalomyopathy: six cases report and review of literature

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
The clinical characteristics, imaging examinations and muscle biopsies in 6 cases with mitochondrial encephalomyopathy were retrospectively analyzed.
Yuan GUO, Jun TUO, Bo WU
doaj  

Neuronal intranuclear inclusion disease with recurrent encephalitis

BMC Neurology
Background Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder characterized by eosinophilic intranuclear inclusions in neurons and multiple visceral organs, leading to heterogeneous clinical manifestations.
Chenchen Li, Chongbo Zhao, Chao Quan, Jingzi ZhangBao, Yue Zhang, Juncang Wu, Chi Zhang, Xiang Li   +7 more
doaj   +1 more source

Common comorbidity of epilepsy: a review of new progress

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
A range of medical and neurologic disorders occurs more frequently in people with epilepsy than in the general population and constitutes somatic comorbidity.
Xue YANG, Zhao⁃fu CHI
doaj  

Structural basis for late maturation steps of mitochondrial respiratory chain complex IV within the human respirasome

Nature Communications
The mitochondrial respiratory chain comprises four multimeric complexes (CI-CIV) that drive oxidative phosphorylation by transferring electrons to oxygen and generating the proton gradient required for ATP synthesis.
Minh Duc Nguyen, Ana Sierra-Magro, Vivek Singh, Anas Khawaja, Alba Timón-Gómez, Antoni Barrientos, Joanna Rorbach   +6 more
doaj   +1 more source

The treatment of mitochondrial myopathies and encephalomyopathies

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995
This paper briefly summarizes the results of a long-term, open pharmacotherapy trial in 16 patients with well-characterized mitochondrial disease. Outcome measures included repeated clinical evaluation, 31P-NMR spectroscopy and near-infrared spectroscopy.
openaire   +2 more sources

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source