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Journal Article
Journal Article
Journal of Neurology, ISSN 0340-5354, 1/2019, Volume 266, Issue 1, pp. 245 - 246
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 02/2018, Volume 19, Issue 2, p. 619
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic... 
Cerebellum | Ataxia | Congenital disorders of glycosylation | CaV2.1 voltage-gated calcium channel | Magentic resonance Imaging (MRI) | Stroke-like | DELAYED CEREBRAL EDEMA | 1 voltage-gated calcium channel | BIOCHEMISTRY & MOLECULAR BIOLOGY | SURFACE EXPRESSION | ENHANCED EXCITATORY TRANSMISSION | Ca(V)2 | CONGENITAL DISORDER | stroke-like | MINOR HEAD TRAUMA | CHEMISTRY, MULTIDISCIPLINARY | cerebellum | congenital disorders of glycosylation | ataxia | magentic resonance Imaging (MRI) | GLYCOSYLATION TYPE IA | CACNA1A GENE MUTATION | ALPHADELTA SUBUNIT | FAMILIAL HEMIPLEGIC MIGRAINE | CALCIUM-CHANNEL | Amino Acid Sequence | Stroke - diagnostic imaging | Channelopathies - complications | Humans | Child, Preschool | Stroke - complications | Male | Electroencephalography | Glycosylation | Mutation - genetics | Magnetic Resonance Imaging | Cerebellar Diseases - complications | Channelopathies - diagnostic imaging | Cerebellar Diseases - diagnostic imaging | Phosphotransferases (Phosphomutases) - metabolism | Tunicamycin - pharmacology | Adolescent | HEK293 Cells | Phosphotransferases (Phosphomutases) - chemistry | Female | Calcium Channels - genetics | Child | Phosphotransferases (Phosphomutases) - deficiency | Ion Channel Gating - drug effects | Headache | Stroke | Deactivation | Channelopathy | Channel gating | Migraine | Calcium channels (voltage-gated) | Risk analysis | Patients | Phosphomannomutase | Risk factors | Mutagenesis | Stroke-like episodes | Mutation | Gating | Index Medicus
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2007, Volume 257, Issue 1, pp. 126 - 138
Journal Article
Clinical Neuroradiology, ISSN 1869-1439, 6/2019, Volume 29, Issue 2, pp. 321 - 329
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, pp. e0127066 - e0127066
Objective To study the effects of L-arginine (L-Arg) on total body aerobic capacity and muscle metabolism as assessed by (31)Phosphorus Magnetic Resonance... 
ENCEPHALOPATHY | SKELETAL-MUSCLE | MAGNESIUM | P-31 MRS | ADOLESCENTS | MULTIDISCIPLINARY SCIENCES | CYSTIC-FIBROSIS | MAGNETIC-RESONANCE SPECTROSCOPY | ACTIVITY ESTIMATION SCALE | EXERCISE | CHILDREN | Neuroimaging | Magnetic Resonance Spectroscopy | Humans | Male | MELAS Syndrome - metabolism | MELAS Syndrome - physiopathology | Case-Control Studies | Dose-Response Relationship, Drug | Rest - physiology | Young Adult | Arginine - pharmacology | Muscles - drug effects | Adolescent | MELAS Syndrome - drug therapy | Female | Exercise - physiology | Phosphocreatine - analogs & derivatives | Phosphocreatine - metabolism | Arginine - therapeutic use | Muscles - metabolism | Ergometry | Usage | Arginine | Nuclear magnetic resonance spectroscopy | Mitochondrial DNA | Research | Lactic acidosis | Health aspects | Mitochondrial encephalomyopathies | Risk factors | Pediatrics | Phosphorylation | Physical training | Disease | pH effects | ADP | Magnetic resonance spectroscopy | Ethics | Mitochondria | Exercise | Work capacity | Spectrum analysis | pH | Physiology | Trends | Stroke-like episodes | Supplementation | Magnesium | Physical education | Hypomagnesemia | Siblings | Spectroscopy | Stroke | Magnetic resonance | Dietary supplements | Muscles | Cystic fibrosis | Phosphocreatine | Metabolism | Medicine | Heart rate | Neurology | Musculoskeletal system | Physical fitness | Hospitals | Aerobic capacity | Mutation | MELAS syndrome | Acidosis | Females | Kinesiology | Index Medicus
Journal Article
Mitochondrion, ISSN 1567-7249, 09/2019, Volume 48, pp. 78 - 83
Mutations in the mitochondrial DNA maintenance gene (DNA Polymerase Gamma, Catalytic Subunit), encoding mitochondrial DNA polymerase gamma (pol γ), are... 
Stroke-like episode | mtDNA | Encephalopathy | Mitochondrial disease | Status epilepticus | POLG | Seizures | Epilepsy | Genes | Mitochondrial DNA | India | Stroke (Disease) | Hospitals | DNA polymerases | Genetic aspects | Seizures (Medicine) | Nucleotide sequencing | Molecular biology | DNA sequencing | Index Medicus
Journal Article
Neurological Sciences, ISSN 1590-1874, 05/2018, Volume 39, Issue 5, pp. 973 - 974
Journal Article