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PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, p. e86340
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial... 
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | REAL-TIME PCR | INDIVIDUAL CELLS | SPINOCEREBELLAR ATAXIA | SPG7 MUTATIONS | MULTIDISCIPLINARY SCIENCES | OPTIC ATROPHY | RATING-SCALE | M-AAA PROTEASE | MTDNA MAINTENANCE | OPA1 MUTATIONS | Metalloendopeptidases - genetics | Spastic Paraplegia, Hereditary - genetics | Sequence Deletion | ATPases Associated with Diverse Cellular Activities | Spastic Paraplegia, Hereditary - diagnosis | Brain - physiopathology | Humans | Middle Aged | DNA, Mitochondrial | Male | Electroencephalography | Magnetic Resonance Imaging | Biopsy | Pedigree | Muscle, Skeletal - physiopathology | Brain - pathology | Female | Aged | Consanguinity | Electromyography | Muscle, Skeletal - pathology | Mitochondria, Muscle - genetics | Proteins | Medical research | Paralysis, Spastic | Genomics | Medicine, Experimental | Muscles | Family | Genetic aspects | Mitochondrial DNA | Pathogenesis | DNA damage | Homeostasis | Genomes | Kinases | Fibers | Electron transport chain | Paraplegia | Missense mutation | Genetics | Ataxia | Paralysis | Spastic paraplegia | Damage accumulation | Deoxyribonucleic acid--DNA | Spasticity | Patients | Skeletal muscle | Hereditary diseases | Medicine | Studies | Neurology | Brain research | Hospitals | Ophthalmoplegia | Diagnostic systems | Clinical medicine | Mutation | Electron transport | Deoxyribonucleic acid | DNA
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 311 - 318
Journal Article
PLoS Genetics, ISSN 1553-7390, 08/2018, Volume 14, Issue 8, p. e1007550
Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous human neurodegenerative diseases. Amongst the identified genetic causes,... 
MICROTUBULE PLUS ENDS | PROTEIN | FORM | HEREDITARY SPASTIC PARAPLEGIAS | GENETICS & HEREDITY | GOLGI-APPARATUS | PHENOTYPES | DOMINANT | MUTATIONS | PARAPARESIS | DEGENERATION | Spastic Paraplegia, Hereditary - genetics | Spastic Paraplegia, Hereditary - diagnosis | Male | Spinocerebellar Degenerations - diagnosis | Cattle Diseases - genetics | Mutation, Missense | Intellectual Disability - genetics | Myelin Sheath - metabolism | Spinocerebellar Degenerations - veterinary | Spinocerebellar Ataxias - diagnosis | Kinesin - genetics | Female | Muscle Spasticity - veterinary | Spastic Paraplegia, Hereditary - veterinary | Optic Atrophy - diagnosis | Disease Models, Animal | Intellectual Disability - veterinary | Optic Atrophy - genetics | Spinocerebellar Ataxias - genetics | Amino Acid Sequence | Spinocerebellar Degenerations - genetics | Cattle - genetics | Kinesin - metabolism | Whole Genome Sequencing | Homozygote | Animals | Optic Atrophy - veterinary | Intellectual Disability - diagnosis | Muscle Spasticity - diagnosis | Heterozygote | Polymorphism, Single Nucleotide | Spinocerebellar Ataxias - veterinary | Cattle Diseases - diagnosis | Muscle Spasticity - genetics | Myelination | Gene mutations | Cattle | Ataxia | Genetic aspects | Health aspects | Diseases | Multiple sclerosis | Nuclear magnetic resonance--NMR | Neurodegenerative diseases | Funding | Nervous system | Genomes | Single-nucleotide polymorphism | Gene polymorphism | Mimicry | Proteins | Paraplegia | Brain research | Demyelination | Actin | Coding | Oligodendrocytes | Isoforms | Mutation | Paralysis | Spastic paraplegia | Bioinformatics | Plaques | Nuclear magnetic resonance | NMR
Journal Article
Molecular Aspects of Medicine, ISSN 0098-2997, 08/2017, Volume 56, pp. 10 - 24
Bile acids facilitate the absorption of lipids in the gut, but are also needed to maintain cholesterol homeostasis, induce bile flow, excrete toxic substances... 
Mass spectrometry | Bile acid biosynthesis | Inborn errors of metabolism | MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | DELTA-3-OXOSTEROID 5-BETA-REDUCTASE DEFICIENCY | CEREBROTENDINOUS XANTHOMATOSIS | LIVER-DISEASE | OXYSTEROL 7-ALPHA-HYDROXYLASE DEFICIENCY | INBORN ERROR | PROGRESSIVE INTRAHEPATIC CHOLESTASIS | METHYLACYL-COA RACEMASE | CHENODEOXYCHOLIC ACID | 3-BETA-HYDROXY-DELTA-C-27-STEROID OXIDOREDUCTASE DEFICIENCY | N-ACYLTRANSFERASE | Spastic Paraplegia, Hereditary - genetics | Zellweger Syndrome - enzymology | Zellweger Syndrome - pathology | Cholestasis - genetics | Spastic Paraplegia, Hereditary - diagnosis | Humans | Zellweger Syndrome - genetics | Infant | Intestines - metabolism | Cholic Acid - biosynthesis | Chenodeoxycholic Acid - biosynthesis | Cholesterol - analysis | Adult | Spastic Paraplegia, Hereditary - pathology | Spastic Paraplegia, Hereditary - enzymology | Cholic Acid - analysis | Cholestasis - enzymology | Liver - metabolism | Cholestasis - diagnosis | Zellweger Syndrome - diagnosis | Cholesterol - metabolism | Chenodeoxycholic Acid - analysis | Cholestasis - pathology | Animals | Intestines - microbiology | Mass Spectrometry - instrumentation | Homeostasis - physiology | Liver - cytology | Mass Spectrometry - methods | Enterohepatic Circulation | Oxidases | Medical colleges | Liver | Lipids | Ursodiol | Amino acids | Liquid chromatography | Deoxycholic acid | Metabolites | Carrier proteins | Ionization | Ligases | Analysis | Physiological aspects | Index Medicus
Journal Article