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optic atrophy
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Dominant (Kjer's) optic atrophy associated with mutations in OPA1 gene
2020 |
First Faculty of Medicine
publication
OPA1 analysis in an international series of probands with bilateral optic atrophy
2017 |
First Faculty of Medicine
publication
Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder
2013 |
First Faculty of Medicine
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Novel MECR mutation in a Czech patient with childhood-onset dystonia, optic atrophy, and basal ganglia abnormality
2022 |
Second Faculty of Medicine, Faculty of Physical Education and Sport, Centre for Knowledge and Technology Transfer
publication
A rear cause of blindness in a patient with nasal polyposis. Leber's hereditary optic atrophy of visual nerve
2011 |
Publication without faculty affiliation
publication
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study
2022 |
First Faculty of Medicine
publication
Leber hereditary optic neuropathy
2017 |
First Faculty of Medicine
publication
Subjective and polysomnographic evaluation of sleep in mitochondrial optic neuropathies
2021 |
First Faculty of Medicine
publication
MFN2 mutations cause compensatory mitochondrial DNA proliferation
2012 |
Second Faculty of Medicine
publication
Mitochondrial membrane protein-associated neurodegeneration: a case report and literature review
2018 |
First Faculty of Medicine
publication
Rare cause of blindness in patient with nasal polyposis: Lebers hereditary neuropathy of the optic nerve
2011 |
First Faculty of Medicine
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Results of Optic Nerve Sheath Decopression in Patients with Idiopathic Intracranial Hypertension
2005 |
Faculty of Medicine in Hradec Králové
publication
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
2006 |
Second Faculty of Medicine
publication
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3
2019 |
First Faculty of Medicine
publication
Adipose tissue-specific ablation of PGC-1β impairs thermogenesis in brown fat
2022 |
First Faculty of Medicine, Faculty of Science, Central Library of Charles University
publication
Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis
2018 |
First Faculty of Medicine
publication
Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease
2019 |
First Faculty of Medicine