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Nature cell biology, ISSN 1465-7392, 12/2018, Volume 20, Issue 12, pp. 1370 - 1377
Organelle biogenesis requires proper transport of proteins from their site of synthesis to their target subcellular compartment 1 – 3 . Lysosomal enzymes are... 
Journal Article
Journal of Neurology, ISSN 0340-5354, 9/2016, Volume 263, Issue 9, pp. 1862 - 1863
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 11/2019, Volume 68, pp. 8 - 16
Cerebellar ataxia is a hallmark of coenzyme Q (CoQ ) deficiency associated with mutations. We present four patients, one with novel pathogenic variants all... 
Dystonia-ataxia syndrome | COQ8A | CoQ10 deficiency | Handwriting deterioration
Journal Article
Acta Myologica, ISSN 1128-2460, 12/2016, Volume 35, Issue 3, p. 121
Journal Article
Acta Myologica, ISSN 1128-2460, 12/2016, Volume 35, Issue 3, pp. 121 - 121
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2018
Background: Mutations in the KCTD7 gene have been associated with progressive myoclonus epilepsy and, in a single patient, with the so-called “Neuronal Ceroid... 
Epileptic encephalopathies | Progressive myoclonus epilepsy | Developmental encephalopathies | Epilepsia partialis continua | Neuronal ceroidolipofuscinosis
Journal Article
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, ISSN 1128-2460, 12/2016, Volume 35, Issue 3, p. 121
Journal Article
Research in Developmental Disabilities, ISSN 0891-4222, 11/2015, Volume 45-46, Issue Nov, pp. 168 - 177
Below-average reading performances have been reported in individuals with Duchenne muscular dystrophy (DMD), but literacy problems in these subjects have yet... 
Journal Article
Radiology Case Reports, ISSN 1930-0433, 03/2019, Volume 14, Issue 3, pp. 309 - 314
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease affecting the nervous system and the adrenal glands. It is caused by a mutation of... 
Cortical and subcortical atrophy | Brain FDG-PET | Missense mutation | X-linked adrenoleukodystrophy (X-ALD) | Frontal lobe dysfunction
Journal Article
Journal Article
Journal of Cellular Biochemistry, ISSN 0730-2312, 04/2009, Volume 106, Issue 5, pp. 878 - 886
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 1678-4227, 06/2017, Volume 75, Issue 6, pp. 339 - 344
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly... 
PSYCHIATRY | NEUROSCIENCES
Journal Article
Clinical Chemistry, ISSN 0009-9147, 01/2011, Volume 57, Issue 11, pp. 1584 - 1596
BACKGROUND: Array-based comparative genomic hybridization (aCGH) is a reference high-throughput technology for detecting large pathogenic or polymorphic... 
Limbs | DNA probes | Mental disorders | Exons | Genomes | Glycoproteins | Gene deletion | Muscular dystrophy | neuromuscular system | Laminin | DNA | genomics | Mutation
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 08/2019, Volume 9, Issue 1, pp. 11878 - 16
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare early-onset neurological disease caused by mutations in SACS, which encodes... 
FORMS | DEFECTS | INHIBITION | CHARLEVOIX-SAGUENAY | MULTIDISCIPLINARY SCIENCES | DISEASE | COMMON | PROTEIN SACSIN | MUTATIONS | RECESSIVE SPASTIC ATAXIA | Oxidative stress | Immunomodulation | Genomes | Chaperones | Ribonucleic acid--RNA | Gene expression | Autophagy | Neuromodulation | Western blotting | Neurological diseases | Mitochondria | Neurodegeneration | Protein folding | Quality control | Ataxia | Phagocytosis | Age
Journal Article
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