| 概要 |
Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus (NEDSTO) is an autosomal recessive neurologic disorder characterized by mild neurodevelopmental delay, axial muscular hypotonia, spasticity, hypokinesia, and transient opisthotonus, caused by mutations in the Tenascin-R (TNR) gene. TNR is an extracellular matrix molecule involved in neurite outgrowth and neural cell adhesion, proliferation and migration, axonal guidance, myelination, and synaptic plasticity.
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| 著者 |
Wagner M, Levy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Berges M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T |
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| 著者 |
Dufresne D, Hamdan FF, Rosenfeld JA, Torchia B, Rosenblatt B, Michaud JL, Srour M |
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