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1990, ISBN 0425119653, 338
Book
1994, 1st ed., ISBN 9780060171926, xv, 187
Book
Journal Article
Human Mutation, ISSN 1059-7794, 05/2017, Volume 38, Issue 5, pp. 556 - 568
Journal Article
Blood, ISSN 0006-4971, 09/2016, Volume 128, Issue 11, pp. 1490 - 1502
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Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 08/2019, Volume 14, Issue 1, pp. 197 - 197
Background Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder characterized by wide clinical, genetic and pathomechanistic... 
MEDICINE, RESEARCH & EXPERIMENTAL | Novel | SERVER | DISEASE | MOTOR | GENETICS & HEREDITY | FRAMEWORK | Cluster | PMP2 | CMT | PERONEAL MUSCULAR-ATROPHY | Demyelinating | Crystals | Amino acids | Family | Genetic aspects | Structure | Fatty acids | Neurophysiology | Index Medicus
Journal Article
Neuroscience Letters, ISSN 0304-3940, 01/2016, Volume 611, pp. 112 - 115
Ataxia telangiectasia is an autosomal recessive multisystem disorder characterized by progressive cerebellar ataxia with onset in childhood, oculocutaneous... 
Ataxia telangiectasia | ATM | Myoclonus | Novel mutation | GENE | PHENOTYPE | NEUROSCIENCES | Ataxia Telangiectasia - physiopathology | Pedigree | Humans | Adolescent | Adult | Ataxia Telangiectasia - genetics | Female | Male | Mutation | Ataxia Telangiectasia Mutated Proteins - genetics | Ataxia | Automated teller machines | Genetic aspects | Analysis | Index Medicus
Journal Article
16.