ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

Journal of Neurology

Volumn 260, Issue 3, 2013, Pages 869-875

  De Bot, S T ^a   Veldink, J H ^b   Vermeer, S ^a   Mensenkamp, A R ^a   Brugman, F ^c   Scheffer, H ^a,d   Van Den Berg, L H ^b   Kremer, H P H ^e   Kamsteeg, E J ^a   Van De Warrenburg, B P ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c Ziekenhuis Rivierenland   (Netherlands)

^d Institute for Genetic and Metabolic Diseases   (Netherlands)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

ATL1; Genetic screening; Hereditary Spastic Paraplegia; REEP1; Sporadic; Upper motor neuron disease

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATL1 GENE; CHILD; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOTONEURON; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REEP1 GENE; RESTLESS LEGS SYNDROME; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; COHORT STUDIES; FEMALE; GTP-BINDING PROTEINS; HUMANS; MALE; MEMBRANE PROTEINS; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MOTOR NEURON DISEASE; MUTATION; PEDIGREE; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84876500847     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6723-z     Document Type: Article

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