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BMC Genomics, ISSN 1471-2164, 02/2014, Volume 15, Issue 1, pp. 91 - 91
Background: Mutations in the gene encoding thymidine kinase 2 (TK2) result in the myopathic form of mitochondrial DNA depletion syndrome which is a... 
Mitochondrial DNA depletion | Thymidine kinase 2 | Microarrays | Mitochondrial encephalomyopathy | Mitochondrial DNA | Gene expression | Bioinformatics | GDF-15 | Skeletal muscle | Apoptosis | p53 | LOCALIZATION | PROTEIN | THYMIDYLATE BIOSYNTHESIS PATHWAY | MACROPHAGE INHIBITORY CYTOKINE-1 | DISORDERS | DNA DEPLETION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | GENE-EXPRESSION | MUTATIONS | Biomarkers - metabolism | DNA, Mitochondrial - metabolism | Signal Transduction | Thymidine Kinase - genetics | Humans | Caspase 3 - metabolism | Computational Biology | Tumor Suppressor Protein p53 - metabolism | Child, Preschool | Infant | Muscle, Skeletal - metabolism | Gene Expression Profiling | Mitochondrial Myopathies - pathology | Growth Differentiation Factor 15 - genetics | Mitochondrial Myopathies - genetics | DNA, Mitochondrial - genetics | Growth Differentiation Factor 15 - blood | Adolescent | Thymidine Kinase - metabolism | Adult | Muscle, Skeletal - pathology | Growth Differentiation Factor 15 - metabolism | Child | Gene mutations | Growth | Muscles | Physiological aspects | Genetic aspects | Diagnosis | Mitochondrial encephalomyopathies | Health aspects | Phosphorylation | Spinal cord | Biomedical research | Neuropathology | Colleges & universities | Muscular system | Patients | Proteins | Pathology | Musculoskeletal system | Mitochondria | Hospitals | Mutation | Deoxyribonucleic acid--DNA | Bioinformàtica | Microxips d'ADN | Central nervous system diseases | Infants | ADN mitocondrial | Expressió gènica | Apoptosi | DNA microarrays | Malalties del sistema nerviós central | Children
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 11/2013, Volume 28, Issue 11, pp. 1531 - 1534
The mitochondrial DNA m.13513G>A mutation in the ND5 subunit gene is a frequent cause of Leigh syndrome. Patients harboring this mutation typically present... 
Leigh syndrome | Wolff-Parkinson- White syndrome | infantile spasms | m.13513G>A mutation | WOLFF-PARKINSON-WHITE | IDENTIFICATION | m.13513G > A mutation | ND5 GENE | CLINICAL NEUROLOGY | CHILDREN | G13513A MUTATION | DNA | PEDIATRICS | Wolff-Parkinson-White syndrome | MELAS | Age
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 82 - 82
Journal Article
Journal Article
Developmental Medicine and Child Neurology, ISSN 0012-1622, 10/2006, Volume 48, Issue 10, pp. 787 - 787
Children with congenital oro-motor disorders (COMD) are not numerous. However, as a group, they merit special consideration as management of diseases leading... 
BRAIN-STEM DYSGENESIS | WORSTER-DROUGHT-SYNDROME | PEDIATRICS | MOBIUS-SYNDROME | CLINICAL NEUROLOGY | PALSY | Humans | Child, Preschool | Infant | Child | Infant, Newborn | Mouth Abnormalities - physiopathology | Neuromuscular Diseases - physiopathology | Nervous System Diseases
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2010, Volume 42, Issue 4, pp. 295 - 297
Journal Article
Journal Article
Journal of Perinatal Medicine, ISSN 0300-5577, 07/2013, Volume 41, Issue 4, pp. 445 - 453
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2015, Volume 25, pp. S300 - S301
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2015, Volume 25, pp. S300 - S301
Journal Article
Anales de Pediatria, ISSN 1695-4033, 08/2015, Volume 83, Issue 2, pp. 109 - 116
Introduction: Our aim was to investigate the correlations between patterns of head growth and intellectual disability among distinct ætiological presentations... 
Discriminant analysis | Intellectual disability | Child development | Microcephaly | Growth
Journal Article
REVISTA DE NEUROLOGIA, ISSN 0210-0010, 12/2012, Volume 55, Issue 11, pp. 663 - 668
Journal Article
Anales de Pediatria, ISSN 1695-4033, 2005, Volume 62, Issue 4, pp. 346 - 351
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 10/2006, Volume 48, Issue 10, pp. 787 - 787
Journal Article
NEUROMUSCULAR DISORDERS, ISSN 0960-8966, 10/2007, Volume 17, Issue 9-10, pp. 707 - 718
We have used the mdx mice strain (C57BL/lOScSn-mdx) as an experimental subject for the study of reiterative skeletal muscle necrosis-regeneration with basement... 
RAT SKELETAL-MUSCLE | DNA DELETION MUTATIONS | degenerative-regenerative groups | gene expression analysis | MYOD | MOUSE | skeletal muscle regeneration | MUSCULAR-DYSTROPHY | SATELLITE CELLS | MITOCHONDRIAL-DNA | laser capture microdissection | CAPTURE MICRODISSECTION | NEUROSCIENCES | CLINICAL NEUROLOGY | mdx mice | MYOGENIC REGULATORY FACTORS | ANIMAL-MODELS
Journal Article
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