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The American Journal of Human Genetics, ISSN 0002-9297, 2008, Volume 83, Issue 1, pp. 30 - 42
Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation. The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher... 
CHAIN | GENE | HEREDITARY SPASTIC PARAPLEGIA | MOLECULAR CHAPERONES | HEAT-SHOCK-PROTEIN-60 | IN-VIVO | ESCHERICHIA-COLI | GENETICS & HEREDITY | PELIZAEUS-MERZBACHER-DISEASE | PROTEIN HSP60 | GJA12 MUTATIONS | Humans | Molecular Sequence Data | Neurodegenerative Diseases - diagnosis | Infant | Male | Hereditary Central Nervous System Demyelinating Diseases - physiopathology | Mitochondrial Proteins - genetics | Case-Control Studies | Chromosomes, Human, Pair 2 | Genes, Lethal | DNA Mutational Analysis | Conserved Sequence | Hereditary Central Nervous System Demyelinating Diseases - diagnosis | Female | Chaperonin 60 - metabolism | Microsatellite Repeats | Neurodegenerative Diseases - diagnostic imaging | Genetic Linkage | Hereditary Central Nervous System Demyelinating Diseases - genetics | Amino Acid Sequence | Chaperonin 60 - chemistry | Chaperonin 60 - genetics | Neurodegenerative Diseases - pathology | Physical Chromosome Mapping | Escherichia coli Proteins - metabolism | Neurodegenerative Diseases - genetics | Genetic Markers | Genes, Recessive | Radiography | Sequence Homology, Amino Acid | Hereditary Central Nervous System Demyelinating Diseases - pathology | Hereditary Central Nervous System Demyelinating Diseases - diagnostic imaging | Neurodegenerative Diseases - physiopathology | Polymorphism, Restriction Fragment Length | Pedigree | Escherichia coli Proteins - genetics | Consanguinity | Chaperonin 60 - analysis | Mutation | Heat shock proteins | Causes of | Nervous system | Myelination | Degeneration | Health aspects | Proteins | Brain | Neurology | Genotype & phenotype | Genetics | Neurological disorders
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2018, Volume 125, Issue 1-2, pp. 118 - 126
Folate metabolism in the brain is critically important and serves a number of vital roles in nucleotide synthesis, single carbon metabolism/methylation, amino... 
Neurometabolism | Folinic acid | 5,10-methenyltetrahydrofolate synthetase | Neurodegeneration | Folate | MEDICINE, RESEARCH & EXPERIMENTAL | SERINE HYDROXYMETHYLTRANSFERASE | 5-FORMYLTETRAHYDROFOLATE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Metabolic Diseases - pathology | Microcephaly - genetics | Humans | Carbon-Nitrogen Ligases - cerebrospinal fluid | Tetrahydrofolates - cerebrospinal fluid | Male | Psychomotor Disorders - complications | Carbon-Nitrogen Ligases - genetics | Brain - metabolism | Nervous System Malformations - metabolism | Microcephaly - cerebrospinal fluid | Carbon-Nitrogen Ligases - deficiency | Antiporters - metabolism | Hereditary Central Nervous System Demyelinating Diseases - metabolism | Tetrahydrofolates - metabolism | Brain - pathology | Amino Acid Transport Systems, Acidic - cerebrospinal fluid | Neuroaxonal Dystrophies | Antiporters - cerebrospinal fluid | Metabolic Diseases - complications | Psychomotor Disorders - cerebrospinal fluid | Mitochondrial Diseases - cerebrospinal fluid | Amino Acid Transport Systems, Acidic - metabolism | Mitochondrial Diseases - metabolism | Amino Acid Transport Systems, Acidic - deficiency | Epilepsy - cerebrospinal fluid | Mitochondrial Diseases - complications | Psychomotor Disorders - metabolism | Psychomotor Disorders - genetics | Microcephaly - pathology | Antiporters - genetics | Epilepsy - genetics | Female | Nervous System Malformations - genetics | Hereditary Central Nervous System Demyelinating Diseases - genetics | Antiporters - deficiency | Mitochondrial Diseases - genetics | Microcephaly - complications | Carbon-Nitrogen Ligases - metabolism | Nervous System Malformations - cerebrospinal fluid | Folate Receptor 1 - deficiency | Metabolic Diseases - cerebrospinal fluid | Epilepsy - complications | Nervous System Malformations - complications | Amino Acid Transport Systems, Acidic - genetics | Metabolic Diseases - genetics | Hereditary Central Nervous System Demyelinating Diseases - cerebrospinal fluid | Hereditary Central Nervous System Demyelinating Diseases - complications | Epilepsy - pathology | Medical research | Metabolites | Ligases | Epilepsy | Physiological aspects | Medicine, Experimental | Amino acids | Leucovorin | Genetic translation | Folic acid
Journal Article
Nature Communications, ISSN 2041-1723, 07/2014, Volume 5, Issue 1, p. 4287
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 05/2016, Volume 87, Issue 5, pp. 512 - 519
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2018, Volume 13, Issue 2, p. e0188869
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2011, Volume 89, Issue 3, pp. 415 - 423
Journal Article
by Wolf, Nicole I and Vanderver, Adeline and van Spaendonk, Rosalina M. L and Schiffmann, Raphael and Brais, Bernard and Bugiani, Marianna and Sistermans, Erik and Catsman-Berrevoets, Coriene and Kros, Johan M and Pinto, Peo Soares and Pohl, Daniela and Tirupathi, Sandya and Strømme, Petter and de Grauw, Ton and Fribourg, Sébastien and Demos, Michelle and Pizzino, Amy and Naidu, Sakkubai and Guerrero, Kether and van der Knaap, Marjo S and Bernard, Geneviève and Benko, William and Boltshauser, Eugen and Bonkowsky, Joshua and Brouwer, Oebele F and Brozova, Klara and Champaigne, Neena L and Cimas, Icíar and Clough, Christopher and Cohen, Ana and Collins, Abigail and Corenblum, Bernard and Dai, Lanlan and Dolan, Gail and Faletra, Flavio and Fernandez, Raymond and Eugenia Garcia Garcia, Maria and Gasparini, Paolo and Gburek-Augustat, Janina and Gibson, William and Gonzalez Moron, Dolores and Guo, Yiran and Hakonarson, Hakon and Hamati, Aline and Harms, Nils and Harting, Inga and Hertzberg, Christoph and Hill, Alan and Hobson, Grace and Innes, Micheil and Kauffman, Marcelo and Keating, Brendan J and Kluger, Gerhard and Kolditz, Petra and Kotzaeridou, Urania and Krägeloh-Mann, Ingeborg and La Piana, Roberta and Liu, Xuanzhu and Marques Lourenço, Charles and Martos-Moreno, Gabriel Á and Matalon, Reuben and Mazzeo, Robert and McClintock, William and McKenzie, Fiona and Mierzewska, Hannah and Mohnish, Suri and Muschke, Petra and Nickel, Miriam and Orcesi, Simona and Padiath, Quasar S and Patzer, Steffi and Peo, Helio and Pineda Marfa, Mercedes and Plecko, Barbara and Poll-Thé, Bwee-Tien and Potic, Ana and Rating, Dietz and Rankin, Julia and Raymond, Gerald and Ronan, Anne and Rosendahl Østergaard, John and Rossignol, Elsa and Sanchez-Carpintero, Rocio and Schossig, Anna and Sébire, Guillaume and Senbil, Nesrin and Swisher, Charles N and Synofzik, Matthis and Sønderberg Roos, Laura K and Stevens, Cathy and Sylvain, Michel and Tibussek, Daniel and Tonduti, Davide and Tran, Luan and van Hove, Johan L. K and Vázquez López, Maria and Wang, Fengxiang and Wang, Jun and Wasling, Pontus and Wassmer, Evangeline and ... and 4H Res Grp and 4H Research Group and On behalf of the 4H Research Group
Neurology, ISSN 0028-3878, 2014, Volume 83, Issue 21, pp. 1898 - 1905
Journal Article
Annals of neurology, ISSN 0364-5134, 2015, Volume 77, Issue 1, pp. 114 - 131
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2017, Volume 26, Issue 22, pp. 4506 - 4518
Journal Article
Journal Article