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Journal Article
Neuropediatrics, ISSN 0174-304X, 12/2016, Volume 47, Issue 6, pp. 349 - 354
Abstract Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily affecting myelin of the central nervous system. At that time, a... 
Review Article | myelin | leukodystrophy | genetics | BASAL GANGLIA | BRAIN-STEM | INITIATION-FACTOR EIF2B | VANISHING WHITE-MATTER | CAVITATING LEUKOENCEPHALOPATHY | TRANSFER-RNA SYNTHETASES | CLINICAL NEUROLOGY | EARLY MYELINATING STRUCTURES | HYPOMYELINATING LEUKODYSTROPHY | PEDIATRICS | MEGALENCEPHALIC LEUKOENCEPHALOPATHY | SPINAL-CORD INVOLVEMENT
Journal Article
Tremor and Other Hyperkinetic Movements, 07/2019, Volume 9, pp. 1 - 4
Background: KIF1C (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia. Case report: We report... 
dystonic tremor | KIF1C | cerebellar ataxia | hypomyelinating leukoencephalopathy
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2015, Volume 92, pp. 46 - 54
Abstract In recent years, the concept of hypomyelinating disorders has been proposed as a group of disorders with varying systemic manifestations that are... 
Neurology | Dysmyelinating and demyelinating disorders | Hypomyelinating disorders | Genetic leukoencephalopathies
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
Neuropediatrics, ISSN 0174-304X, 04/2018, Volume 49, Issue 2, pp. 112 - 117
Abstract 4H leukodystrophy is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. With its variability in clinical symptoms,... 
Original Article | MRI | 4H leukodystrophy | CATALYTIC SUBUNIT | POL III | CLINICAL NEUROLOGY | LEUKOENCEPHALOPATHY | PATTERN-RECOGNITION | MULTIPLE-SCLEROSIS | HYPOMYELINATING LEUKODYSTROPHY | PEDIATRICS | MUTATIONS | HYPOGONADOTROPIC HYPOGONADISM | HYPODONTIA | POLYMERASE-III
Journal Article
Neuropediatrics, ISSN 0174-304X, 2017, Volume 48, Issue 3, pp. 152 - 160
4H (hypomyelination, hypodontia and hypogonadotropic hypogonadism) leukodystrophy (4H) is an autosomal recessive hypomyelinating white matter (WM) disorder... 
Original Article | MRI | leukodystrophy | hypomyelination | HYPOMYELINATING LEUKODYSTROPHIES | RNA-POLYMERASE III | RECESSIVE MUTATIONS | DISORDERS | POLR3B MUTATIONS | CEREBRAL ATROPHY | GROSS MOTOR FUNCTION | CLINICAL NEUROLOGY | LEUKOENCEPHALOPATHY | MULTIPLE-SCLEROSIS | PEDIATRICS | HYPOGONADOTROPIC HYPOGONADISM
Journal Article
NEUROBIOLOGY OF DISEASE, ISSN 0969-9961, 08/2016, Volume 92, pp. 46 - 54
Journal Article