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The New England Journal of Medicine, ISSN 0028-4793, 05/2018, Volume 378, Issue 21, pp. 1987 - 1998
Journal Article
Brain, ISSN 0006-8950, 06/2013, Volume 136, Issue 6, pp. 1708 - 1717
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The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 86, Issue 3, pp. 343 - 352
Distal hereditary motor neuropathies comprise a clinically and genetically heterogeneous group of disorders. We recently mapped an X-linked form of this... 
OCCIPITAL-HORN-SYNDROME | MENKES-DISEASE | MARIE-TOOTH-DISEASE | PROTEIN | SPINAL MUSCULAR-ATROPHY | WILSON-DISEASE | GENETICS & HEREDITY | TRAFFICKING | NEURON DISEASE | DEFICIENCY MYELONEUROPATHY | CANDIDATE GENE | Immunohistochemistry | Copper-transporting ATPases | Humans | Middle Aged | Child, Preschool | Molecular Sequence Data | Male | DNA Primers - genetics | Mutation, Missense | RNA, Messenger - metabolism | Genetic Complementation Test | Young Adult | Motor Neuron Disease - metabolism | Motor Neuron Disease - genetics | Cation Transport Proteins - metabolism | Base Sequence | Copper - metabolism | Adult | Cation Transport Proteins - genetics | Female | Genetic Diseases, X-Linked - genetics | Amino Acid Sequence | Genetic Association Studies | Menkes Kinky Hair Syndrome - metabolism | RNA, Messenger - genetics | Cells, Cultured | Adenosine Triphosphatases - metabolism | Models, Molecular | Menkes Kinky Hair Syndrome - genetics | Genetic Diseases, X-Linked - metabolism | Syndrome | Sequence Homology, Amino Acid | Pedigree | Adolescent | Adenosine Triphosphatases - chemistry | Adenosine Triphosphatases - genetics | Cation Transport Proteins - chemistry | Adenosine triphosphate | Research | Proteins | Genotype & phenotype | Yeast | Neurons | Genetics | Amino acids | Mutation | Adenosine triphosphatase | Index Medicus
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Human Molecular Genetics, ISSN 0964-6906, 08/2013, Volume 22, Issue 16, pp. 3259 - 3268
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Movement Disorders, ISSN 0885-3185, 07/2018, Volume 33, Issue 7, pp. 1108 - 1118
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Blood, ISSN 0006-4971, 10/2016, Volume 128, Issue 15, pp. 1913 - 1917
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