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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 5/2018, Volume 41, Issue 3, pp. 297 - 307
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 79, Issue 6, pp. 1125 - 1129
Journal Article
Journal of Alzheimer's Disease, ISSN 1387-2877, 10/2018, Volume 66, Issue 1, pp. 75 - 82
Alzheimer’s disease (AD) is a severe neurodegenerative disorder for which the exact etiology is largely unknown. An increasingly recognized and investigated... 
Phosphorylation | Enzymatic activity | Neurodegenerative diseases | Etiology | Presenilin 1 | Rodents | Amyloid | Electron transport | Alzheimer's disease | Age | Plaques
Journal Article
BBA - Bioenergetics, ISSN 0005-2728, 07/2016, Volume 1857, Issue 7, pp. 938 - 945
Complex I deficiency is the most frequently encountered single mitochondrial single enzyme deficiency in patients with a mitochondrial disorder. Although... 
Complex I | Enzyme measurement | mtDNA | Whole exome sequencing | Mitochondrial disease | RESPIRATORY-CHAIN | EXOME | SUPEROXIDE-PRODUCTION | BIOCHEMISTRY & MOLECULAR BIOLOGY | CLINICAL-FEATURES | DEFICIENCY | ATP PRODUCTION | BIOPHYSICS | LEIGH-SYNDROME | CALCIUM UNIPORTER | MUTATION | HEREDITARY OPTIC NEUROPATHY | Enzymes | Genes | Genomics | Genetic screening
Journal Article
Brain & development, ISSN 0387-7604, 07/2019
ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. We studied a family... 
Journal Article
The Journal of Molecular Diagnostics, ISSN 1525-1578, 05/2019, Volume 21, Issue 3, pp. 503 - 513
Mitochondrial disease (MD) is a group of rare inherited disorders with clinical heterogeneous phenotypes. Recent advances in next-generation sequencing (NGS)... 
DIAGNOSIS | PROTEIN | PATHOGENICITY | VARIANTS | GENE | DNA | COA DEHYDROGENASE-DEFICIENCY | MUSCLE | MUTATIONS | PATHOLOGY | MOLECULAR-MECHANISMS
Journal Article
Journal of Alzheimer's disease : JAD, ISSN 1387-2877, 2018, Volume 66, Issue 1, pp. 75 - 82
Alzheimer's disease (AD) is a severe neurodegenerative disorder for which the exact etiology is largely unknown. An increasingly recognized and investigated... 
electron transport complex IV | amyloid beta-peptides | Alzheimer’s disease | mice | mitochondria | electron transport complex II | OXIDATIVE-PHOSPHORYLATION SYSTEM | APP/PS1 MICE | RESPIRATORY-CHAIN | COGNITIVE IMPAIRMENT | AMYLOID PRECURSOR PROTEIN | CHRONIC STRESS | NEUROSCIENCES | BETA | CYTOCHROME-C-OXIDASE | DYSFUNCTION | ENERGY-METABOLISM | Alzheimer's disease
Journal Article
Biochimica et biophysica acta, ISSN 0006-3002, 07/2016, Volume 1857, Issue 7, p. 938
Journal Article
Annals of Neurology, ISSN 0364-5134, 07/2014, Volume 76, Issue 1, pp. 134 - 139
Journal Article
Journal Article
Annals of Neurology, ISSN 0364-5134, 07/2014, Volume 76, Issue 1, pp. 134 - 139
Hypomyelinating disorders of the central nervous system are still a diagnostic challenge, as many patients remain without genetic diagnosis. Using magnetic... 
Journal Article