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Clinical Neurophysiology, ISSN 1388-2457, 12/2017, Volume 128, Issue 12
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 12/2016, Volume 127, Issue 12
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 6, p. e21548
Journal Article
Neurology, ISSN 0028-3878, 05/2017, Volume 88, Issue 22, pp. 2128 - 2131
Journal Article
Neurology, ISSN 0028-3878, 08/2019, Volume 93, Issue 9, pp. 411 - 412
Journal Article
Current drug metabolism, ISSN 1389-2002, 2018, Volume 19, Issue 5, pp. 460 - 468
Journal Article
Journal Article
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 04/2018, Volume 89, Issue 4, pp. 358 - 366
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2015, Volume 10, Issue 9, p. e0139264
Journal Article
Annals of Neurology, ISSN 0364-5134, 02/2016, Volume 79, Issue 2, pp. 306 - 316
To characterize the expression in skin nerves of native (n-syn) and misfolded phosphorylated (p-syn) α-synucleins in pure autonomic failure (PAF) and... 
Biomarkers - metabolism | Proteostasis Deficiencies - metabolism | Nerve Fibers - metabolism | Skin - metabolism | Humans | Middle Aged | Pure Autonomic Failure - metabolism | Male | Peripheral Nervous System Diseases - metabolism | Skin - innervation | Female | Aged | Parkinson Disease - metabolism | alpha-Synuclein - metabolism
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2014, Volume 9, Issue 10, p. e108641
Journal Article
Journal Article
Brain, ISSN 0006-8950, 2/2008, Volume 131, Issue 2, pp. 338 - 351
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic... 
Chronic progressive external ophthalmoplegia | Dominant optic atrophy | Mitochondrial encephalomyopathy | Mitochondria | mtDNA multiple deletions | PROTEIN | mitochondria | NEUROSCIENCES | chronic progressive external ophthalmoplegia | R445H MUTATION | CLINICAL NEUROLOGY | mitochondrial encephalomyopathy | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY | HEARING-LOSS | GENE | DISEASE | dominant optic atrophy | DEAFNESS | FISSION | DELETIONS | Ophthalmoplegia, Chronic Progressive External - pathology | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Mutation, Missense | DNA Mutational Analysis - methods | Ophthalmoplegia, Chronic Progressive External - genetics | DNA, Mitochondrial - genetics | Base Sequence | Muscle, Skeletal - chemistry | Adult | Female | Optic Atrophy, Autosomal Dominant - pathology | Child | Muscle, Skeletal - ultrastructure | Models, Molecular | Fibroblasts - pathology | Mitochondrial Myopathies - pathology | Syndrome | Magnetic Resonance Imaging | Point Mutation | Mitochondrial Myopathies - genetics | GTP Phosphohydrolases - genetics | Pedigree | Optic Atrophy, Autosomal Dominant - genetics | Aged | GTP Phosphohydrolases | Neurons and Cognition | DNA, Mitochondrial | Life Sciences | DNA Mutational Analysis | Fibroblasts | Optic Atrophy, Autosomal Dominant | Mitochondrial Myopathies | Ophthalmoplegia, Chronic Progressive External | Muscle, Skeletal
Journal Article